chondrodysplasia


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Related to chondrodysplasia: Chondrodysplasia punctata

chondrodysplasia

 [kon″dro-dis-pla´zhah]
chondrodysplasia puncta´ta a heterogeneous group of bone dysplasias, the common characteristic of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (rhizomelic dwarfism), an autosomal dominant form (Conradi-Hünermann syndrome), and a milder X-linked form.

chon·dro·dys·tro·phy

(kon'drō-dis'trō-fē),
A disturbance in the development of the cartilage primordia of the long bones, especially the region of the epiphysial plates, resulting in arrested growth of the long bones and dwarfism in which the limbs are abnormally short, but the head and trunk are essentially normal; autosomal recessive inheritance.
Synonym(s): chondrodysplasia
[chondro- + G. dys, bad, + trophē nourishment]

chondrodysplasia

/chon·dro·dys·pla·sia/ (-dis-pla´zhah) dyschondroplasia.
chondrodysplasia puncta´ta  a heterogeneous group of hereditary bone dysplasias, the common characteristic of which is stippling of the epiphyses in infancy.

chondrodysplasia

[kon′drōdisplā′zhə]
Etymology: Gk, chondros + dys, bad, plassein, to form
an inherited disease characterized by abnormal growth at the ends of bones, particularly the long bones of the arms and legs. Bones of the hands and feet may be similarly affected.

chondrodysplasia

Pediatric orthopedics A defect in development of cartilage especially of long bones, resulting in arrested growth and dwarfism

chon·dro·dys·tro·phy

(kon'drō-dis'trŏ-fē)
A disturbance in the development of the cartilage of the long bones, especially of the epiphysial plates, resulting in arrested growth and dwarfism in which the limbs are abnormally short, but the head and trunk are essentially normal.
Synonym(s): chondrodysplasia.
[chondro- + G. dys, bad, + trophē nourishment]

chondrodysplasia

abnormal growth of cartilage; may be used to include achondroplasia. Causes disproportionate dwarfism and occurs as an inherited trait in cattle (Dexter, Telemark lethal and 'snorter'), sheep (Ançon and Cheviot) and dogs (Alaskan malamute, miniature poodles and Norwegian elkhound). See also achondroplasia, enchondromatosis.

deforming hereditary chondrodysplasia
inherited chondrodysplastic defects characterized by skeletal deformity, e.g. chondrodysplastic dwarfism.
References in periodicals archive ?
1997) Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor.
1997) Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.
Finally, the patient was treated for precocious puberty due to 11-[beta]-hydroxilase deficiency and Schmid metaphyseal chondrodysplasia.
Schmid type metaphyseal chondrodysplasia is an autosomal dominant disorder and can be caused by various mutations in the COL10A1 gene.
A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebetype chondrodysplasia in a consanguineous Pakistani family.
Poll-The, "The neurology of rhizomelic chondrodysplasia punctata," Orphanet Journal of Rare Diseases, vol.
Incesu, "Case report: rhizomelic chondrodysplasia punctata and foramen magnum stenosis in a newborn," Turkish Journal of Diagnostic and Interventional Radiology, vol.
Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement.
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.
Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia.
Nasal hypoplasia and chondrodysplasia punctate are the two most consistent features of the syndrome.
org 1,2,3,4,6,8 CHEMKE SYNDROME See: Hydrocephalus; Lissencephaly CHIARI MALFORMATION See: Arnold-Chiari Malformation CHILD SYNDROME See: Ichthyosis CHOLESTATIS WITH PERIPHERAL PULMONARY STENOSIS See: Alagille Syndrome CHOLESTERYL ESTER STORAGE DISEASE See: Tay-Sachs Disease CHONDRODYSPLASIA PUNCTATA See: Growth Disorders; Ichthyosis CHONDRODYSTROPHY, HYPERPLASTIC See: Dwarfism, Metatrophic CHORIONIC VILLUS SAMPLING, RELATED DISABILITIES See also: Limb Disorders CVS Parent Network Support Group 15706 Reynolds Ln.

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