Disease Information for De Lange syndrome: Definition

  • A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands; The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3---------(Menkes, Textbook of Child Neurology, 5th ed, p231)-----------

    Brachmann-Cornelia de Lange syndrome; de Lange’s syndrome

    This condition is described sometimes as one syndrome, sometimes as two; It is here entered as one entity;

    A rare form of oligophrenia comprising microcephaly with severe mental retardation, short stature, and characteristic facies; Craniofacial features consist of a clown-like appearance with large, low and curly eyelashes, micrognathia, thin lips and downturned upper lip (carp mouth), cleft lip and palate, optic atrophy, an upturned nose, and hirsutism; The most striking feature of the syndrome is that all the children look alike, like brothers and sisters; Often severe dysplasia of extremities; There is a lobster-claw deformity of the hand, small hands and feet with small and tapered digits, syndactyly between the second and third toes, proximal insertion of the thumb, short and curved fifth finger, phocomelia, and oligodactyly; various other malformations; Cutis marmorata, circumoral cyanosis, generalized hypertrichosis, hypoplastic nipples and umbilicus, and simian creases are the principal dermatological features; Low birth weight after full-term pregnancy and a low-pitched growling cry are the early symptoms; The majority of those affected have diminished sucking and swallowing capacity, failure to thrive, predisposition to respiratory tract infections, and frequent vomiting with aspiration pneumonia; Mental retardation is usually severe; Most patients die before the age of 6 years --------------[whonamedit.com 2005]------------------

    Several types described, more severe from duplication of the long arm of chromosome 3