Cornelia de Lange syndrome

(redirected from Cornelia Delange Syndrome)

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 ?
All three patients had some symptoms similar to those found in patients with Cornelia deLange syndrome (CdLS), a rare multisystem disease long studied at CHOP.
The National Institutes of Health (grant HD052860) supported this study, as did the Cornelia deLange Syndrome Foundation and MEXT, a Japanese government agency.
Genesis has Cornelia Delange syndrome, a rare disorder that causes global delays, mental retardation, and facial deformities.
13, 2012 /PRNewswire-USNewswire/ -- Genetics researchers have identified a key gene that, when mutated, causes the rare multisystem disorder Cornelia deLange syndrome (CdLS).
Deardorff is a member of Children's Hospital's Center for Cornelia deLange Syndrome and Related Diagnoses, one of the world's leading programs in studying and treating CdLS.
Cornelia deLange Syndrome Foundation, institutional funding from The Children's Hospital of Philadelphia, intramural funding from the University of Lubeck, and the Research Program of Innovative Cell Biology by Innovative Technology.
HDAC8 mutations in Cornelia deLange Syndrome affect the cohesin acetylation cycle," Nature, advance online publication Aug.
An international team of researchers identified two genes that contribute to Cornelia deLange syndrome (CdLS), a multisystem genetic disease that affects an estimated one in 10,000 children.
Our work suggests that a subset of patients with mental retardation may have mutations in these genes, without showing the broader range of symptoms identified in diseases such as Cornelia deLange syndrome," said study leader Ian D.
This discovery will improve the diagnosis of Cornelia deLange syndrome," added Dr.