Cornelia de Lange syndrome


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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.

Cornelia de Lange syndrome

(kôr-nē′lē-ä də lăng′, də läng′, kôr-nā′lē-ä dĕ läng′ə)
n.
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 ?
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.
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.
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.
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.
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.
Behavioral and psychiatric manifestations in Cornelia de Lange syndrome. Curr Opin Psychiatry 2017; 30(2):92-96.
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.
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.
Cornelia de Lange Syndrome is rare - between one in 40,000 and 100,000 babies are born with the condition.