Cornelia de Lange syndrome(redirected from Brachmann-Cornelia de Lange 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.
Farlex Partner Medical Dictionary © Farlex 2012
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.
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.
Cornelia de Lange syndromeAn 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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
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