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 ?
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.
Cornelia de Lange Syndrome (CdLS) can be expressed in multiple organ systems requiring a variety of specialists, including pediatric otolaryngology.
Cornelia De Lange syndrome was initially suspected by the geneticists due to dysmorphic facial features, including prominent eyebrows, thin upper lip, and smooth philtrum.
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.
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.
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.
Literature review reveals association of this deformity with syndromes like Turner's syndrome, Cornelia de Lange syndrome and Silver syndrome.
Behavioural phenotype of Cornelia de Lange syndrome.
Cornelia de Lange syndrome is a rare developmental disorder characterized by hypertrichosis, low intelligence, delayed milestones and skeletal and dental abnormalities.
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.