nail-patella syndrome

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Nail-Patella Syndrome

 

Definition

Nail-patella syndrome, is a genetic disease of the connective tissue that produces defects in the fingernails, knee caps, and kidneys.

Description

Nail-patella syndrome is also known as Fong Disease, Hereditary Onycho-Osteodysplasia (H.O.O.D.), Iliac Horn Disease, and Turner-Kieser syndrome. Patients who have nail-patella syndrome may show a variety of physical defects. The hallmark features of this syndrome are poorly developed fingernails, toenails, and patellae (kneecaps). Other common abnormalities include elbow deformities, abnormally shaped pelvis bone (hip bone), and kidney (renal) disease.
Less common medical findings include defects of the upper lip, the roof of the mouth, and unusual skeletal abnormalities. Skeletal abnormalities may include poorly developed scapulae (shoulder blades), sideways bent fingers (clinodactyly), clubfoot, scoliosis, and unusual neck bones. There are also other effects, such as thickening of the basement membrane in the skin and of the tiny clusters of capillaries (glomeruli) in the kidney. Scientists have recognized an association between nail-patella syndrome and colon cancer. Nail-patella syndrome is associated with open-angle glaucoma, which, if untreated, may lead to blindness. Patients may also have cataracts, drooping eyelids (ptosis), or corneal problems such as glaucoma.
People with nail-patella syndrome may display only a few or many of the recognized signs of this disease. Symptoms vary widely from person to person. Signs even vary within a single family with multiple affected members.
The incidence of nail-patella syndrome is approximately one in 50,000 births. This disorder affects males and females equally. It is found throughout the world and occurs in all ethnic groups. The strongest risk factor for nail-patella syndrome is a family history of the disease.

Causes and symptoms

Nail-patella syndrome has been recognized as an inherited disorder for over 100 years. It is caused by mutations in a gene known as LIM Homeobox Transcription Factor 1-Beta (LMX1B), located on the long arm of chromosome 9.
The LMX1B gene codes for a protein that is important in organizing embryonic limb development. Mutations in this gene have been detected in many unrelated people with nail-patella syndrome. Scientists have also been able to interrupt this gene in mice to produce defects similar to those seen in human nail-patella syndrome.
Nail-patella syndrome is inherited in an autosomal dominant manner. This means that possession of only one copy of the defective gene is enough to cause disease. When a parent has nail-patella syndrome each of their children has a 50% chance to inherit the disease-causing mutation.
A new mutation causing nail-patella syndrome can also occur, causing disease in a person with no family history. This is called a sporadic occurrence and accounts for approximately 20% of cases of nail-patella syndrome. The children of a person with sporadic nail-patella syndrome are also at a 50% risk of developing signs of the disorder.
Medical signs of nail-patella syndrome vary widely between patients. Some patients with this disorder do not display symptoms. These patients are discovered to have the nail-patella syndrome only when genetic studies trace their family history. Scientists are now working to learn what causes different people to display such different symptoms of nail-patella syndrome.
The most obvious sign associated with nail-patella syndrome is absent, poorly developed, or unusual fingernails. Fingernail abnormalities are found in over 80% of patients with this disorder. Abnormalities may be found in one or more fingernails. Only rarely are all fingernails affected. This disease most commonly affects the fingernails of the thumbs and index fingers. The pinky fingernail is least likely to be affected. Fingernails may be small and concave with pitting, ridges, splits, and/or discoloration. Toenails are less often affected. The lunulae, or light-colored crescent moons, at the base of the fingernail bed next to the cuticle are sometimes triangularly-shaped in people with nail-patella syndrome.
Kneecap abnormalities are the second most common sign associated with this disorder. Either or both kneecaps may be missing or poorly formed. If present, kneecaps are likely to be dislocated. The knees of people with nail-patella syndrome may have a square appearance. Besides the kneecap, other support structures including bones, ligaments, and tendons may also be malformed. These support structures stabilize the knee, therefore patients with some leg malformations may have difficulty in walking.
The hip bones of approximately 80% of patients with nail-patella syndrome have unusual bony projections called posterior iliac horns. These bony projections, or spurs, are internal and not obvious unless they are detected on x ray. This unusual pelvic anatomy is not associated with any other disease.
Kidney disease is present in at least 30% of people with nail-patella syndrome. Biopsy shows lesions that resemble those of inflammation of the clusters of capillaries in the kidneys (glomerulonephritis), but without any infection present. Kidney failure is the most dangerous consequence of nail-patella syndrome. It occurs in about 30% of patients who have kidney involvement. An early sign of kidney involvement is the presence of protein or blood in the urine (chronic, benign proteinuria and hematuria.) Kidney involvement is progressive, so early diagnosis and treatment of renal disease is important. Kidney disease has been reported in children with nail-patella syndrome, but renal involvement more commonly develops during adulthood.
Various skeletal symptoms may occur. Patients with nail-patella syndrome may not be able to fully straighten their arms at the elbow. This may create a webbed appearance at the elbow joint. Patients may have sideways bent fingers, poorly developed shoulder blades, clubfoot, hip dislocation, unusual neck bones, or scoliosis.
Eye problems may be present and vary from person to person. Nail-patella syndrome is associated with open angle glaucoma. Open angle glaucoma is caused by fluid blocked into the front chamber of the eye. This blocked fluid builds increasing pressure into the eye. If untreated, this increased pressure may lead to permanent damage of the optic nerve and irreversible blindness. Some patients with nail-patella syndrome have ptosis, or drooping eyelids. Nail-patella syndrome has also been associated with abnormalities of the cornea, cataracts, and astigmatism. Additionally, the irises of the eye may be multicolored, possibly displaying a clover-shaped pattern of color.

Diagnosis

As of early 2001, genetic testing for nail-patella syndrome is available only through research institutions that are working to further characterize this disorder. Genetic testing cannot predict which signs of the disease will develop. Nor can genetic testing predict the severity of disease symptoms. Improved genetic testing for nail-patella syndrome is anticipated in the future.
Diagnosis of this disease is most often made on visual medical clues such as the characteristic abnormalities of the fingernails and kneecaps. Diagnosis is confirmed by x-ray images of the affected bones and, when indicated, kidney biopsy. The bony pelvic spurs found in 80% of patients with nail-patella syndrome are not associated with any other disease.
Prenatal diagnosis for nail-patella syndrome by third-trimester ultrasound was documented in 1998. Prenatal diagnosis via genetic testing of cells obtained by chorionic villus sampling was reported the same year. As of 2001, prenatal genetic testing for nail-patella syndrome is not yet widely available. There is controversy surrounding the use of prenatal testing for such a variable disorder. Prenatal testing cannot predict the extent of an individual's disease.

Treatment

Treatment is usually not necessary. Treatment, when required, depends on each patient's specific symptoms. Severe kidney disease is treated with dialysis or a kidney transplant. Patients receiving kidney transplants do not develop nail-patella type renal complications in their new kidney.
A wheelchair may be required if walking becomes painful due to bone, tendon, ligament, or muscle defects. Orthopedic surgery may be necessary for congenital clubfoot deformity. Manipulation or surgery may be required to correct hip dislocation. Cataracts are also surgically treated. Medical treatment at early signs of glaucoma prevents progression of the disease to blindness.
Genetic counseling is offered to persons who have the disease. Parents with this disease have a 50% chance of passing it to each of their children. As of 2001, current genetic testing technology cannot predict the severity or scope of an individual's symptoms.
Because many possible manifestations of nail-patella syndrome exist, patients are advised to pursue extra medical care including regular urinalysis and special eye exams. Children with nail-patella syndrome should be screened for scoliosis.

Prognosis

Survival among patients with nail-patella syndrome is not decreased unless a they exhibit renal complications. It is estimated that 8% of individuals with nail-patella syndrome who come to medical attention eventually die of kidney disease.

Resources

Books

Berkow, R., M. H. Beers, A. J. Fletcher, and R. M. Bogin. The Merck Manual of Medical Information—Home Edition. McGraw-Hill, 2004.

Other

Gene Clinics. http://www.geneclinics.org.
OMIM—Online Mendelian Inheritance in Man. http://www3.ncbi.nlm.nih.gov/Omim.

Key terms

Chorionic villus sampling (CVS) — A procedure used for prenatal diagnosis at 10-12 weeks gestation. Under ultrasound guidance a needle is inserted either through the mother's vagina or abdominal wall and a sample of cells is collected from around the early embryo. These cells are then tested for chromosome abnormalities or other genetic diseases.
Glomeruli — Tiny clusters of capillaries in the kidney.
Hematuria — The presence of blood in the urine.
Patella — The kneecap.
Proteinuria — Excess protein in the urine.

nail-·pa·tel·la syn·drome

[MIM*161200]
a skeletal disorder characterized by absence or hypoplasia of the patella, iliac horns, dysplasia of the fingernails and toenails, and thickening of the glomerular lamina densa; the lower ends of the femur have a shape very similar to Erlenmeyer flask deformity; autosomal dominant inheritance, caused by mutation in the gene encoding LIM-homeodomain protein (LMX1B) on chromosome 9q.

nail-patella syndrome

a hereditary syndrome consisting of dystrophy of the nails, absence or hypoplasia of the patella, hypoplasia of the lateral side of the elbow joint, and bilateral iliac horns. Also called hereditary osteoonychodysplasia, onycho-osteodysplasia, osteoonychodysplasia.
enlarge picture
Nail-patella syndrome

nail-patella syndrome

Fong disease, hereditary osteo-onychodysplasia, HOOD syndrome, osteo-onychodysplasia, Turner-Kieser syndrome Nephrology An AD condition affecting structures of both mesodermal and ectodermal origin with partial-to-complete absence of thumb and great toenails, flexion contractions of multiple joints, defective or absent patellae, lordosis, clinodactyly and campylodactyly, conical iliac horns, scapular thickening, radial head subluxation, interfering with full ROM–pronation and supination, renal abnormalities–mesangial proliferation, thickened glomerular basement membrane, collagen deposition with proteinuria, microscopic hematuria, glomerulonephritis, pyelonephritis, slowly progressive renal failure, and ocular disease–clover leaf pigmentation of iris, cataracts, microphakia, microcornea, keratoconus, ptosis Molecular pathology Linked genetically to the ABO blood, on chromosome 9q34

nail-pa·tel·la syn·drome

(nālpă-telă sindrōm)
Skeletal disorder characterized by absence or hypoplasia of the patella, iliac horns, dysplasia of the fingernails and toenails, and thickening of the glomerular lamina densa.

Fong,

Edward Everett, U.S. radiologist, 1912–.
Fong lesion - genetic trait resulting in abnormality of thumb and great toe nails; may result in iliac bone abnormalities and abnormalities of the renal system. Synonym(s): Fong syndrome; nail-patella syndrome; Österricher-Fong syndrome
Fong syndrome - Synonym(s): Fong lesion

syndrome

aggregated objective signs, subjective symptoms and specific pathologies that typify specific conditions
  • acquired immunodeficiency syndrome; AIDS severe reduction in numbers of T4 lymphocyte helper (CD4) cells (due to infection with human immunodeficiency virus [HIV]) and resultant compromise of humoral and cell-mediated immunity; patients show lymphadenopathy, opportunistic infections (e.g. tinea and verrucae) and unusual infections (e.g. histoplasmosis, gastrointestinal tract candidiasis, Pneumocystis carnii pneumonia [PCP]), unusual malignancies (e.g. Kaposi's sarcoma), wasting diseases and presenile dementia

  • acute compartment syndrome; ACS increased lower-limb intracompartmental pressure on exercise (exercise expands muscles, increases intracompartmental pressures, inducing pain); treated initially by rest, immobilization, non-steroidal anti-inflammatory drugs; severe cases may require surgical decompression (fasciotomy)

  • anterior tarsal syndrome; ATS deep peroneal nerve entrapment at anterior ankle/dorsal talonavicular joint, due to restriction of ankle dorsiflexion (e.g. tight boots; ski boots), or local soft-tissue trauma (e.g. dorsal tarsal exostoses); characterized by extensor hallucis longus weakness, dorsal foot paraesthesia and numbness of first intermetatarsal space (symptoms can be induced by deep peroneal nerve percussion as crosses the anterior aspect of the ankle joint, or by ankle joint plantarflexion whilst simultaneously dorsiflexing toes)

  • anterior tibial compartment syndrome ischaemic necrosis of anterior compartment muscle fibres, due to local arterial compression by engorged muscles, after unaccustomed exertion

  • anterior tibiotalar impingement syndrome anterior ankle pain at ankle dorsiflexion (e.g. at midstance, just before heel lift) due to inferior tibial/neck of talus exostosis

  • Apert's syndrome type Ia acrocephalosyndactyly, characterized by features of Carpenter's syndrome, with lesser digital (2-5) fusion into one mass, usually with a common mega-nail

  • Apert-Crouzon syndrome type IIa acrocephalosyndactyly characterized by features of Carpenter's syndrome with additional craniofacial dysostosis, maxillary hypoplasia, and 2-4 digit fusion

  • Bazex syndrome; acrokeratosis paraneoplastica keratoderma (i.e. erythema, scaling and irritation) of skin of ears, nose, hands and feet and later generalized hyperkeratosis in men with underlying internal malignancy; condition regresses when underlying malignancy is resolved

  • Behçet's syndrome chronic vasculitic disease of unknown cause; characterized by seronegative arthritis of knees and ankles, elbows and wrists, mouth ulcers, erythema nodosum, visual impairment and cerebrovascular accident

  • benign familial joint hypermobility syndrome; BFJHS generalized joint hypermobility, diagnosed as 2 major/1 major + 2 minor/4 minor criteria (see Table 1) in the absence of Ehlers-Danlos syndrome, Marfan's syndrome and osteogenesis imperfecta

  • Brocq-Lyell syndrome; toxic epidermal necrolysis severe, acute, systemic drug reaction characterized by hyperpigmented skin lesions and epidermal detachment

  • Brown-Séquard syndrome hemiparaplegia and hyperaesthesia, with ipsilateral loss of stereognosis and contralateral hemianaesthesia; due to unilateral spinal cord lesion

  • carpal tunnel syndrome pain, paraesthesia and loss of power of palmar muscles; associated with rheumatoid arthritis

  • Carpenter's syndrome; acrocephalopolysyndactyly oxycephaly, bradysyndactyly and polydactyly of the feet, with learning difficulties

  • Charcot's syndrome see intermittent claudication

  • chronic compartment syndrome; CCS; chronic exertional compartment syndrome exercise-induced fascial compartment pain; caused by compromised circulation and relative ischaemia of intracompartmental tissues, with long-term muscle and nerve dysfunction and damage; recalcitrant cases require surgical decompression through fasciotomy (see syndrome, acute compartment)

  • compartment syndrome see syndrome, acute compartment; syndrome, chronic compartment

  • complex regional pain syndrome; CRPS; chronic regional pain syndrome neuroinflammatory dysfunction, due to ion interaction of nociceptive C-fibre nerve endings, the sympathetic nervous system and spinal cord efferent motor nerves; characterized by vasomotor instability, hyperalgesia and impaired motor function; diagnosed from clinical presentation, symptoms reduction on administration of sympathetic nerve blockade, and intense, focal periarticular uptake of contrast medium in a delayed imaging-phase bone scan; treated by early, aggressive physical therapy to prevent contracture and muscle wasting, symptomatic relief by sympathetic nerve blockade, non-steroidal anti-inflammatory drugs, tricyclic antidepressants and anticonvulsant medication; immobilization is contraindicated

  • complex regional pain syndrome type 1; CRPS 1; reflex sympathetic dystrophy; Sudek's atrophy; allodynia sympathetic nervous system-mediated acute pain and vasomotor instability, triggered by minor or surgical trauma without obvious nerve injury; affects women more than men; pain is excessive and out of proportion to severity of initiating injury; diagnosis is based on clinical symptoms aided by bone scan, laser Doppler studies and thermography; patients may show anxiety, depression and disturbed sleep; condition is difficult to manage; patients suspected of CRPS 1 should have early referral to a pain clinic (see Table 2); presents in three stages:

    • stage 1 acute phase, lasting 2-3 months, with regional severe burning pain, warmth and swelling triggered by stress/light touch, bone demineralization, skin trophic changes

    • stage 2 dystrophic phase/Sudek's atrophy; lasting for several months; characterized by constant unrelenting pain, exacerbated by any stimulus, and tissue cyanosis, coolness and induration, and diffuse osteoporosis

    • stage 3 atrophic phase, characterized by reduced/absent/intractable pain, irreversible atrophy of skin/subcutaneous tissues, flexion contractures of foot, advanced osteoporosis with a 'ground-glass' appearance on X-ray of affected bone

  • complex regional pain syndrome, type 2; CRPS 2; causalgia; sympathetic pain syndrome persistent and severe skin paraesthesia/burning sensations; caused by trauma to peripheral sensory nerve fibres; symptoms, progress and treatment are similar to that of CRPS 1

  • Conn's syndrome primary aldosteronism; characterized by headaches, thirst, nocturia, polyuria, hypovolaemia, fatigue, hypertension, alkalosis, and potassium depletion

  • constrictive band syndrome intrauterine development of deep, tight, circumferential folds around leg/foot, and compromised limb development distal to band (e.g. autoamputation; marked oedema of distal tissues); thought to relate to strands of amniotic membrane enwrapping the developing limb

  • Cushing's syndrome raised blood cortisol (e.g. due to pituitary tumour; long-term steroid therapy); characterized by central obesity, moon-like facies, acne, skin striae, hypertension, decreased carbohydrate tolerance and tendency to diabetes, female amenorrhoea and hirsutism

  • Down's syndrome chromosomal disorder (trisomy 21) characterized by congenital short stature, broad short hands/feet, characteristic facies (pronounced epicanthic skin folds, flat hypoplastic face, short nose, enlarged tongue), transverse palmar crease, very dry skin, learning difficulties; formerly termed mongolism

    Edwards' syndrome trisomy 18, with congenital characteristic facies (micrognathia, low-set ears), rocker-bottom feet, severe learning difficulties; affected children often die in early childhood

  • Ehlers-Danlos syndrome; Ehlers-Danlos diseases I-X hereditary connective tissue disorder characterized by collagen abnormality, marked generalized skin and blood vessel laxity, and joint hypermobility; skin is readily traumatized and heals slowly; see syndrome, hypermobility

  • Franconi's syndrome a form of anaemia associated with renal tubule dysfunction; adult Franconi's syndrome shows synostosis with osteomalacia, and acquired Franconi's syndrome is associated with multiple myeloma

  • Giles de la Tourette syndrome motor incoordination characterized by verbal, facial or limbic tics

  • Gorlin's syndrome multiple naevus-like basal cell carcinomata, causing small pits and depressions of palmar and plantar skin

  • Guillain-Barré syndrome; acute inflammatory polyneuropathy; acute idiopathic polyneuritis; infectious polyneuritis; postinfective polyneuropathy sudden-onset, acute, postviral polyneuritis; presents as distal pain, muscular weakness/flaccidity, paraesthesia; spreads proximally over 14-21 days; severe cases show spinal nerve involvement, with respiratory failure and limb paralysis (patient will require life support and anticoagulation to prevent deep-vein thrombosis); spontaneous recovery occurs over several weeks/months; some residual neuromotor effects may persist

  • Haglund's syndrome prominence of posterior superior lateral area of calcaneum, retrocalcaneal bursitis, Achilles tendon thickening and Achilles tendinitis; diagnostic rearfoot radiographic features include positive parallel pitch lines, loss of retrocalcaneal recess (indicating retrocalcaneal bursitis), Achilles tendon thickening, loss of distinct interface between Achilles tendon and pre-Achilles fat pad

  • heel pain syndrome see heel pain

  • heel spur syndrome see heel spur

  • Howel-Evans syndrome familial palmoplantar keratoderma, with increased risk of oesophageal cancer

  • Hurler's syndrome; lipochondrodystrophy; dysostosis multiplex autosomal-recessive inherited generalized lipid disturbance and mucopolysaccharoidosis, affecting cartilage, bone, skin, subcutaneous tissues, brain, liver and spleen; characterized by short stature, shortness of neck, trunk and digits, kyphosis, reduced joint mobility, learning difficulties, characteristic facies (so-called gargoylism) and visual impairment

  • hypermobility syndrome; joint hypermobility syndrome disordered collagen (types 1 and 3) structure, with associated decreased tensile strength of skin/structural tissues; characterized by generalized joint hypermobility, easy bruising, impaired healing, increasing incidence of joint/soft-tissue pain, joint dislocation and osteoarthritis; a presenting feature of benign familial joint hypermobility syndrome (BFJHS) (see Table 3), Ehlers-Danlos syndrome, Marfan syndrome and osteogenesis imperfecta

  • iliotibial band syndrome; ITBS; iliotibial band friction syndrome; ITBFS overuse-associated, friction-induced inflammation of ITB and associated bursa, where ITB moves over lateral femoral condyle (Gerdy's tubercle); due to repeated knee flexion and extension, especially in athletes/cyclists; presents as ITB pain at heel strike progressing to constant ITB pain; early-stage treatment includes a daily stretching programme (see Table 4) and application of heat (pre-exercise) and ice (postexercise) (see Table 5)

  • joint hypermobility syndrome see syndrome, hypermobility

  • lobster-claw syndrome extreme form of ectrodactyly; characterized by absence of third and fourth rays

  • Korsakoff's syndrome confusion and severe memory impairment with confabulation and Wernicke's syndrome, associated with chronic alcoholism

  • Lyell's syndrome drug-induced, acute skin sensitivity reaction; characterized by acute erythema, urticaria, vasculitis, purpura, marked exfoliation (peeling), flaccid bullae formation, subepidermal separation/detachment

  • Marfan's syndrome familial, autosomal-dominant, congenital changes in mesodermal and ectodermal tissues; characterized variably by musculoskeletal changes (e.g. increased height, excessive limb length, arachnodactyly; generalized tissue laxity and joint hypermobility), visual effects, and cardiovascular effects (e.g. aortic aneurysm)

  • medial tibial stress syndrome; MTSS; tibial fasciitis; shin splint muscle fatigue, reduced shock absorption, traction enthesiopathy and periostitis along anterior and posterior medial lower one-third of tibia (see Table 6) secondary to overuse/underpreparation for exercise; exacerbated by exercising on hard surfaces, especially in individuals who pronate excessively; treated by muscle-strengthening exercises, pre-exercise flexibility programme, modification of overall sports exercise programme (see Table 7), in conjunction with gait analysis, orthoses and correct shoe selection

  • Morquio's syndrome; type IV mucopolysaccharoidosis severe skeletal dysplasia including spine/thorax deformity, irregular epiphyses but normal shaft length of long bones, enlarged joints, flaccid ligaments, waddling gait and urinary abnormalities, due to autosomal-recessive error of mucopolysaccharide metabolism

  • Morton's syndrome congenital shortening of first metatarsal with apparent shortening of hallux and associated metatarsalgia

  • Munchausen's syndrome repeated fabrication of illness/symptoms of illness

  • Munchausen's syndrome by proxy repeated reporting of spurious illness/symptoms of illness by one person about another

  • musculoskeletal pain syndrome see polymyalgia rheumatica

  • nail-patella syndrome; hereditary arthrodysplasia autosomal-dominant abnormality of finger/toenails, absent/hypoplastic patella, defects of head of radius and iliac horns, and iris discoloration

  • nephrotic syndrome peripheral oedema, albuminuria, reduced plasma albumin (hypoalbuminaemia), refractory bodies in urine and raised blood cholesterol

  • nerve entrapment syndromes local nerve trunk compression (e.g. tibial, medial calcaneal lateral, first lateral branch of calcaneal, lateral plantar, high tibial, popliteal, deep peroneal, superficial, saphenous, sural or medial common hallucal nerves), as in tarsal/carpal tunnel syndromes, plantar digital neuritis, Morton's neuroma; characterized by distressing distal dermatomal sensory (e.g. pain and paraesthesia) and/or motor symptoms (e.g. muscle atrophy) (see Table 8)

  • Nievergelt-Pearlman syndrome rare autosomal-dominant bone disease causing lower-limb 'rhomboidal' tibia/fibula (crura rhomboidei), joint dysplasias, genu valgum, club foot, deformed toes; more common in males

  • overlap syndromes see mixed connective tissue diseases

  • patellofemoral joint syndrome see syndrome, runner's-knee

  • peroneal cuboid syndrome loss of rearfoot eversion due to long-standing peroneal tendon dysfunction/tendinitis; characterized by plantar pain from cuboid to first metatarsal

  • polycystic ovary syndrome see syndrome, Stein-Leventhal

  • Raynaud's syndrome concomitant Raynaud's disease (always affecting hands, and frequently feet) in patients with connective tissue disorders, characterized by generalized digital cyanosis, localized painful vasculitic lesions of dorsal forefoot (30% of cases) and apices of toes (20-25% of cases); subcutaneous calcinosis (20% of cases) may masquerade as a seed corn

  • Reiter's syndrome urethritis, iridocyclitis, arthritis, plantar enthesiopathy and heel spur formation, often triggered by earlier gastrointestinal Escherichia coli infection or exposure to a sexually transmitted disease (e.g. Chlamydia trachomatis); more common in human leukocyte antigen (HLA) B27 tissue-type males; see keratoderma blenorrhagicum

  • restless-leg syndrome overwhelming need to move the lower limbs constantly; characteristic of chronic renal failure; thought to be triggered by accumulation of metabolites and uraemia

  • Reye's syndrome cerebral oedema and death (in 50% of cases, usually children), provoked by aspirin therapy; aspirin is proscribed for children less than 16 years old

  • Riley-Day syndrome; familial dysautonomia autosomal-dominant complete indifference to pain; also characterized by orthostatic hypotension, hyperhidrosis and hyporeflexic/absent deep tendon reflexes, pes cavus and trophic plantar ulceration

  • Roussy-Levy syndrome; hereditary areflexic dystasia; Charcot-Marie-Tooth (CMT) disease type II essential tremor, sensory ataxia, poor coordination and judgement of movement, kyphoscoliosis and distal muscle atrophy (especially peronei); autosomal-dominant inherited disease similar to CMT disease type 1, but developing in early childhood

  • runner's-knee syndrome mild lateral subluxation of patella in patellar groove; due to an increase in Q angle (i.e. >15°), often in association with excessive foot pronation, tibial varum, internal tibial torsion, weakened quadriceps group, malposition of vastus medialis, hard running surfaces or faulty sports shoes, leading to uneven pressure on anterolateral surface of femoral condyle and local pain; often affects female runners; treated by prescription orthoses to reduce torque, torsion and knee joint stress

  • scalded-skin syndrome scaled/peeling appearance of skin overlying areas of infection, or associated with adverse drug reactions

  • 'second-class travel' syndrome pulmonary thromboembolism due to prolonged periods of inactivity, e.g. passengers (who have been static for > 4 hours during long-haul intercontinental air flights) develop deep-vein thrombosis; the clot detaches, passing through venous circulation and heart, to block the pulmonary artery; characterized by sudden collapse and death; passengers on long-haul flights are advised to undertake leg muscle exercises regularly throughout the duration of the flight, wear 'antithrombotic' elasticated hosiery and consider medication with aspirin in the weeks before long-haul flight

  • sinus tarsi syndrome sensation of unsteadiness when walking on gravel/uneven ground and ongoing pain in lateral tarsal area just distal to and level with lateral malleolus, subsequent to inversion sprain/excess rearfoot pronation (e.g. as in rearfoot rheumatoid arthritis); local symptoms are exacerbated by heel inversion/eversion; treated by non-steroidal anti-inflammatory drugs, local immobilization, orthoses or steroid injection

  • SjÖgren's syndrome; sicca syndrome; keratoconjunctivitis sicca oral mucous membranes dryness, loss of lacrimal secretion, facial telangiectasias (i.e. butterfly rash), bilateral parathyroiditis (in younger women), strongly associated with rheumatoid arthritis and Raynaud's phenomenon

  • Stein-Leventhal syndrome; polycystic ovary syndrome multiple ovarian cyst formation, with associated menstrual abnormalities, infertility, enlarged ovaries, insulin resistance, obesity, acne, evidence of masculinization (e.g. hirsuitism) and increased tendency to type 2 diabetes mellitus; responds to treatment with oral contraceptive pill and/or metformin

  • Stevens-Johnson syndrome widespread bullous erythema multiforme of skin/mucous membranes; due to hypersensitivity/drug reaction

  • talar compression syndrome posterior ankle pain when foot is maximally plantarflexed at ankle joint; due to compression of posterior tubercle of talus on posterior margin of distal end of tibia; note: similar condition occurs with os trigonum, which impinges on posteroinferior margin of tibia (see Table 9)

  • tarsal tunnel syndrome; TTS pain, paraesthesia and numbness in sole of foot; due to tibial nerve compression within tarsal tunnel; associated with excess foot pronation or rearfoot rheumatoid arthritis; symptoms reproduced by tapping the skin overlying distal medial malleolar area (Tinel's sign positive); conservative treatment includes valgus filler pads, cobra pads and medial heel wedges, or control of excessive rearfoot pronation with moulded cushioned orthoses worn with bespoke shoes, together with non-steroidal anti-inflammatory drugs and/or disease-modifying antirheumatic drugs; surgical treatment includes decompression procedures to free posterior tibial nerve and excise local fibrous structures (see tarsal tunnel)

  • distal tarsal tunnel syndrome isolated entrapment of medial/lateral plantar nerves; medial plantar nerve is compressed between navicular tuberosity and belly of abductor hallucis longus, causing 'jogger's foot'; first branch of lateral plantar nerve (Baxter's nerve) may be entrapped as it courses laterally between bellies of abductor hallucis and quadratus plantae (flexor accessories) muscles (see Table 10)

  • proximal tarsal tunnel syndrome entrapment of posterior tibial nerve/its branches deep to flexor retinaculum; due to excessive subtalar joint pronation (with narrowing of tarsal tunnel, e.g. in rheumatoid foot) due to entrapment within attachments of flexor retinaculum, compression by an enlarged abductor hallucis muscle belly, enlarged navicular tuberosity, accessory navicular, presence of os tibialis externum, ischaemic compromise of posterior tibial nerve, or varicosities within tarsal tunnel

  • trisomy 21 syndrome see syndrome, Down's

  • Turner's syndrome sex-chromosome (XO) abnormality affecting 1:2500 females, with characteristic morphology (web neck, short stature), infantilism and amenorrhoea, coarctation of aorta and peripheral oedema; feet are oedematous, short and broad, show excess subtalar joint pronation and hyperextended halluces; nails tend to involution, and affected subjects are prone to ingrowing nails

  • Werner's syndrome autosomal-recessive condition characterized by scleroderma-like skin, cataracts, progeria (premature senility), hypogonadism and diabetes mellitus

  • Wernicke's syndrome; Wernicke-Korsakoff syndrome; Wernicke's encephalopathy brainstem ischaemia causing nystagmus and other ocular effects, tremors and ataxia, mental confusion, hypothermia and hypotension; more common in chronic alcoholics

  • Wolff-Parkinson-White syndrome congenital atrioventricular interconnection causing tachycardia and characteristic electrocardiogram pattern

  • yellow-nail syndrome see nail, yellow

Table 1: The major and minor diagnostic criteria of benign familial joint hypermobility syndrome (BFJHS)
Major criteria
Current/historic Brighton score of 4/9
Arthralgia for >3/12 in four or more joints
Minor criteria
Current/historic Brighton score of 1, 2 or 3/9 (0, 1, 2, 3/9 if >50 years old)
Arthralgia for minimum of 3 months in 1-3 joints, or back pain for minimum of 3 months, or spondylosis/spondylolysis/spondylolisthesis
Dislocation/subluxation of > one joint, or one episode of simultaneous dislocation/subluxation of more than one joint
Three or more lesions of soft-tissue rheumatism (e.g. spondylitis, tenosynovitis, bursitis)
Marfanoid habitus (i.e. tall, slim physique, span:height ratio >1.3, upper:lower segment ratio <0.89, arachnodactyly [+Steinberg/wrist signs])
Abnormal skin: striae, hyperextensibility, thin skin, papyraceous scarring
Eye signs: drooping eyelids, myopia, antimongoloid slant
Varicose veins or hernia or uterine/rectal prolapse

Note: BFJHS is diagnosed in the presence of two major criteria, or one major and two minor criteria, or four minor criteria (adapted from Grahame R, Bird HA, Child A, Dolan AL, Fowler-Edwards A, Ferrell W, Gurley-Green S, Keer R, Mansi E, Murray K, Smith E. The British Society Special Interest Group on Heritable Disorders of Connective Tissue Criteria for the Benign Joint Hypermobility Syndrome. "The Revised (Brighton 1998) Criteria for the Diagnosis of the BJHS". Journal of Rheumatology 2000; 27:1777-1779).

Table 2: Features of complex regional pain syndrome
PhaseFeatures
Acute phase (duration: 2-3 months)
Reversible
Severe burning pain, warmth, swelling and joint stiffness within a limb: not confined to a dermatome or myotome
Bone demineralization
Symptoms (exacerbated by limb dependence, contact or stress) persist for 2-3 months
Chronic phase (duration: several months)
Reversible
Pain continues
The limb becomes cool, firm and cyanotic
Radiographs show diffuse osteoporosis
Digits develop flexure contractures
Persists for several months
Atrophic phase
Irreversible
Pain diminishes or becomes intractable
Skin and subcutaneous tissues become atrophic
Flexion contractures in foot become fixed
Osteoporosis becomes advanced; bone has a 'ground-glass' appearance
Table 3: The major and minor diagnostic criteria of benign familial joint hypermobility syndrome (BFJHS)
Major criteria
Current/historic Brighton score of 4/9
Arthralgia for >3/12 in four or more joints
Minor criteria
Current/historic Brighton score of 1, 2 or 3/9 (0, 1, 2, 3/9 if >50 years old)
Arthralgia for minimum of 3 months in 1-3 joints, or back pain for minimum of 3 months, or spondylosis/spondylolysis/spondylolisthesis
Dislocation/subluxation of > one joint, or one episode of simultaneous dislocation/subluxation of more than one joint
Three or more lesions of soft-tissue rheumatism (e.g. spondylitis, tenosynovitis, bursitis)
Marfanoid habitus (i.e. tall, slim physique, span:height ratio >1.3, upper:lower segment ratio <0.89, arachnodactyly [+Steinberg/wrist signs])
Abnormal skin: striae, hyperextensibility, thin skin, papyraceous scarring
Eye signs: drooping eyelids, myopia, antimongoloid slant
Varicose veins or hernia or uterine/rectal prolapse

Note: BFJHS is diagnosed in the presence of two major criteria, or one major and two minor criteria, or four minor criteria (adapted from Grahame R, Bird HA, Child A, Dolan AL, Fowler-Edwards A, Ferrell W, Gurley-Green S, Keer R, Mansi E, Murray K, Smith E. The British Society Special Interest Group on Heritable Disorders of Connective Tissue Criteria for the Benign Joint Hypermobility Syndrome. "The Revised (Brighton 1998) Criteria for the Diagnosis of the BJHS". Journal of Rheumatology 2000; 27:1777-1779).

Table 4: Iliotibial band-stretching regime
Muscle groupAction (hold for 5-10 seconds; repeat ×5, three times a day)
Hip abductorStand erect, legs straight, feet together; stretch trunk (on frontal plane) towards the unaffected leg
Iliotibial bandLie on a bench on the unaffected side, with the unaffected hip and knee slightly flexed, in order to maintain balance; flex the affected hip and straighten the affected knee so that the affected leg hangs off the bench; allow the iliotibial band of the affected leg to be stretched by gravitational pull
Lie on a bench on the affected side with the affected leg in line with the body and the hip and knee locked; flex the unaffected (upper) leg; place the hands on the bench immediately under the shoulder and push the trunk upwards as far as possible to apply stretch to the lateral area of the affected leg
Upper iliotibial bandStand erect; with affected leg behind normal leg; stretch trunk (on frontal plane) towards unaffected side
Lower iliotibial bandStand erect as above, with the knee of the affected leg slightly flexed and hips rotated (on transverse plane) towards affected leg; stretch trunk (on frontal plane) towards the unaffected side
Iliotibial band and hamstringsStand erect, with the affected leg behind the normal leg so that the knee of the affected leg rests on the posterior aspect of the non-affected knee; rotate the trunk (on transverse plane) away from the affected leg and attempt to touch the heel of the affected leg
Table 5: Treatment regime for iliotibial band syndrome
VisitAction
1Examination
Including Nobel's and Ober's tests, and excluding other causes of knee joint pain
Gait analysis - walking and running
Check for presence of tibial varum, tibial torsion, uncompensated rearfoot varus and limb length discrepancy (include shoe wear pattern)
Instigate the iliotibial band stretching regime (see Table 11), with a quadriceps- and adductor-strengthening programme
Ice massage to painful area at lateral aspect of knee Advise reduction in athletic activity
2Commence physical therapies, e.g. cortisone iontorphoresis or ultrasound and ice massageStabilizing orthoses and/or foot and ankle taping, ± heel lift
Continue stretching programme ± massage
Non-steroidal anti-inflammatory (10-day course of 400 mg ibuprofen qds)
Stop all athletic activity if pain does not resolve
3Magnetic resonance imaging/computed tomographic scan to knee joint areaRefer to orthopaedics

Most cases will resolve with one treatment; more severe cases will require a second visit and some will require orthopaedic referral.

Table 6: Iliotibial band-stretching regime
Muscle groupAction (hold for 5-10 seconds; repeat ×5, three times a day)
Hip abductorStand erect, legs straight, feet together; stretch trunk (on frontal plane) towards the unaffected leg
Iliotibial bandLie on a bench on the unaffected side, with the unaffected hip and knee slightly flexed, in order to maintain balance; flex the affected hip and straighten the affected knee so that the affected leg hangs off the bench; allow the iliotibial band of the affected leg to be stretched by gravitational pull
Lie on a bench on the affected side with the affected leg in line with the body and the hip and knee locked; flex the unaffected (upper) leg; place the hands on the bench immediately under the shoulder and push the trunk upwards as far as possible to apply stretch to the lateral area of the affected leg
Upper iliotibial bandStand erect; with affected leg behind normal leg; stretch trunk (on frontal plane) towards unaffected side
Lower iliotibial bandStand erect as above, with the knee of the affected leg slightly flexed and hips rotated (on transverse plane) towards affected leg; stretch trunk (on frontal plane) towards the unaffected side
Iliotibial band and hamstringsStand erect, with the affected leg behind the normal leg so that the knee of the affected leg rests on the posterior aspect of the non-affected knee; rotate the trunk (on transverse plane) away from the affected leg and attempt to touch the heel of the affected leg
Table 7: Grades and characteristics of medial tibial stress syndrome (MTSS)
GradeCharacteristic
1Pain on palpation of the anteromedial (or posteromedial) area of tibial crest
No pain during activity or exercise
2Pain after activity or exercise
No pain during activity or exercise
3Pain during activity or exercise
Pain after activity or exercise
4Pain and discomfort during normal walking
Continual pain during activity or exercise
Table 8: Phased treatment approach to medial tibial stress syndrome (MTSS)
PresentationTreatment
Phase 1: acute phaseCessation of exercise activity until all pain resolves RICE(P)
Phase 2: rehabilitation phaseDeep compartment muscle exercise to strengthen the deep fascial-bone interface and reduce tension on the deep fascial insertion, in order to decrease pain and swelling and prevent fascial scarring
Phase 3: functional phaseUse of antipronatory/functional orthoses, strapping or taping in order to strengthen the fascial-bone interphase and prevent further excessive tension on the tibia
Phase 4: return to activityPhased and gradual return to normal levels of activity
Table 9: Presentations of nerve trunk irritation in the foot
Neuroma/lesionInvolved nerveLocation
Proximal tarsal tunnel syndromeBranches of the posterior tibial nerveMedial ankle area
Distal tarsal tunnel syndrome Jogger's footMedial plantar nerveBetween navicular tuberosity and belly of abductor hallucis
Distal tarsal tunnel syndrome Baxter's neuritisLateral plantar nerveBetween bellies of abductor hallucis, quadratus plantae and abductor digiti quinti minimi
Joplin's neuromaMedial plantar nerve properMedial area of first metatarsal head
Houser's neuromaFirst plantar intermetatarsal nerveBetween 1 and 2 metatarsals
Heuter's neuromaSecond plantar intermetatarsal nerveBetween 2 and 3 metatarsals
Morton's neuromaThird plantar intermetatarsal nerveBetween 3 and 4 metatarsals
Islen's neuromaFourth plantar intermetatarsal nerveBetween 4 and 5 metatarsals
Table 10: Accessory bones in the foot
Accessory bone in the footLocation
Os tibiale externum (accessory navicular)Within tibialis posterior tendon, adjacent to proximal part of navicular tuberosity
Os trigonumPosterior margin of talus
Os peroneumWithin peroneus longus tendon, adjacent to inferior lateral border of cuboid/calcaneocuboid joint
Os vesalianumAdjacent to fifth metatarsal base
Os intermetatarseumBetween bases of first and second metatarsals
Os interphalangeusWithin insertion of flexor hallucis longus tendon, adjacent to plantar area of hallux interphalangeal joint
Table 11: Presentations of nerve trunk irritation in the foot
Neuroma/lesionInvolved nerveLocation
Proximal tarsal tunnel syndromeBranches of the posterior tibial nerveMedial ankle area
Distal tarsal tunnel syndrome Jogger's footMedial plantar nerveBetween navicular tuberosity and belly of abductor hallucis
Distal tarsal tunnel syndrome Baxter's neuritisLateral plantar nerveBetween bellies of abductor hallucis, quadratus plantae and abductor digiti quinti minimi
Joplin's neuromaMedial plantar nerve properMedial area of first metatarsal head
Houser's neuromaFirst plantar intermetatarsal nerveBetween 1 and 2 metatarsals
Heuter's neuromaSecond plantar intermetatarsal nerveBetween 2 and 3 metatarsals
Morton's neuromaThird plantar intermetatarsal nerveBetween 3 and 4 metatarsals
Islen's neuromaFourth plantar intermetatarsal nerveBetween 4 and 5 metatarsals
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