Cornelia de Lange syndrome

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de Lang·e syn·drome

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.

Cornelia de Lange syndrome

(kôr-nē′lē-ä də lăng′, də läng′, kôr-nā′lē-ä dĕ läng′ə)
A congenital disorder characterized by intellectual disability, short stature, characteristic facies with thick eyebrows and low hairline, and limb abnormalities.

Cornelia de Lange syndrome

An often autosomal dominant, multiple congenital anomaly syndrome (OMIM:122470) characterised by mental retardation; distinctive facies with microcephaly, unibrow, 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.

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
References in periodicals archive ?
Two-year-old Cassie, who has the rare condition Cornelia de Lange Syndrome, weighs just 16lb and wears clothes meant for a three-to-six-month-old baby.
Members of The Cornerstone Project raised pounds 3,000 for the Cornelia de Lange Syndrome Foundation (CdLS Foundation).
The boys stunned every-one when they got to 19 and it was then another expert realised they had Cornelia De Lange syndrome.
Young Jessica was born with Cornelia de Lange Syndrome (CdLS), a condition without a cure that causes medical, physical, and cognitive challenges.
Devon Barnes, from Billingham, suffers from Cornelia de Lange Syndrome, which slows down children's development and leaves many with abnormal limbs.
My mum and dad look after my brother who is 23 and is disabled - he has Cornelia De Lange Syndrome," said Michelle.
Jada suffered from a number of defects, including, inter alia, Cornelia de Lange syndrome, spina bifida, and hydrocephalus and paralysis from the waist down.
The team have ended a 15-year search for the gene that causes Cornelia de Lange Syndrome which leaves victims with missing or deformed limbs, mentally disabled and with cardiac problems.
A closer look reveals that most of the children have Cornelia de Lange syndrome or CdLS (a rare birth defect characterized by physical and mental developmental delays.
Cornelia de Lange Syndrome Foundation of Avon, Connecticut was awarded $22,295 for their project, Cornelia de Lange Syndrome Information Clearinghouse.
Simon, who had rare genetic disorder Cornelia de Lange Syndrome and was only the size of a seven year old, was sent home after the tube had been fitted.