de Lang·e syn·drome

(dĕ-lahng'ĕ),

a multiple congenital anomaly syndrome characterized by mental retardation, distinctive facies with microcephaly, synophrys, low anterior hairline, depressed nasal bridge, anteverted nares, long philtrum, carp mouth, thin upper lip and low-set ears, prenatal and postnatal growth retardation, hirsutism, and frequently, limb anomalies. Genetics unclear, although some instances appear to be autosomal dominantly inherited.

Synonym(s): Amsterdam syndrome, Cornelia de Lange syndrome

Farlex Partner Medical Dictionary © Farlex 2012

de Lange syndrome

(də lăng′, də läng′, dĕ läng′ə)

See Cornelia de Lange syndrome.

de Lange,

Cornelia, Dutch pediatrician, 1871-1950.

Cornelia de Lange syndrome - Synonym(s): de Lange syndrome

de Lange syndrome - a congenital anomaly characterized by impaired development, mental retardation, characteristic facies with synophrys and hairline well down on forehead, depressed bridge of nose with uptilted tip of nose, small head with low-set ears, and flat spadelike hands with simian crease and short tapering fingers. Synonym(s): Amsterdam syndrome; Cornelia de Lange syndrome

Medical Eponyms © Farlex 2012

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References in periodicals archive

Noah, whose parents were unable to look after him, has a rare genetic disorder called Cornelia de Lange syndrome which means he has complex needs which are life-limiting.

'Little Noah is so lucky to have found such a caring new family' JUDGE PRAISES DAD AS HE TAKES ON HIS FIFTH CHILD WITH DISABILITIES

Clinical overlap between WDSTS and other genetic syndromes with hypertrichosis such as Kabuki Syndrome (KS, MIM # 147920, 300867), Coffin-Siris Syndrome (CS, MIM # 135900), Pierpont Syndrome (PS, MIM # 602342) and Cornelia de Lange Syndrome (CdLS, MIM # 122470)2 may complicate the diagnosis.

Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report/Sindrome de Wiedemann-Steiner por una nueva variante patogenica en KMT2A: reporte de un caso

To the Editor: Cornelia de Lange syndrome (CdLS, OMIM #122470), also called Brachmann-de Lange syndrome, is a serious genetic disease with unknown exact incidence.

A New Mutation Identified by Whole Exome Sequencing in a Cornelia de Lange Syndrome Newborn

This manuscript describes a patient with Cornelia de Lange syndrome who was successfully treated with growth hormone because she was born small for gestational age and showed no catch up growth.

Successful Growth Hormone Therapy in Cornelia de Lange Syndrome

Antonie Tonie Kline, the director of pediatric genetics at the Harvey Institute for Human Genetics at Greater Baltimore Medical Center, will receive the RARE Champions of Hope in Medical Care and Treatment Award for her development of the Multidisciplinary Cornelia de Lange Syndrome (CdLS) Clinic Program.

Dr. Paul Celano, John Chessare and Dr. Tonie Kline / GBMC

Cornelia de Lange Syndrome (CdLS) can be expressed in multiple organ systems requiring a variety of specialists, including pediatric otolaryngology.

Cornelia de Lange syndrome: What every otolaryngologist should know

Cornelia De Lange syndrome was initially suspected by the geneticists due to dysmorphic facial features, including prominent eyebrows, thin upper lip, and smooth philtrum.

Wolman disease

Emma, whose three-year-old daughter Sophia was born with genetic disorder Cornelia de Lange syndrome, told the Mirror she believed the group could make a difference.

We have to be the voice for our kids.. those with learning disabilities need early intervention; Mum to hand parents' petition to Stormont over nursery cuts

Cornelia de Lange syndrome (CdLS), also known as Brachmann de Lange syndrome, is a rarely seen genetic disorder characterised by facial features such as monobrow (synophrys), long eyelashes, anteverted nostrils, a long filtrum and thin lips.

Cornelia de Lange syndrome--a rarely seen disorder

Born on Aug 11, 2011, at Newcastle's Royal Victoria Infirmary, Jack was initially diagnosed with rare Cornelia de Lange Syndrome, a developmental disorder that affects many parts of the body, including the features.

Appeal for North Tyneside toddler Jack Savage booming thanks to Chronicle readers; Bid to raise [pounds sterling]7,000 for North Tyneside toddler Jack's special vest off to a flying start thanks to kind donations

Cornelia de Lange Syndrome is rare - between one in 40,000 and 100,000 babies are born with the condition.

Little Miss; BRAVE TODDLER'S SHOES ARE SMALLEST EVER MADE BY SCOTS MEDICS Family hail Cassie as she battles rare growth condition