DeLange syndrome
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Dutch pediatrician Cornelia Catharina De Lange described two syndromes named De Lange Syndrome I and II (CDLS 1 and 2).[1]
Genetics[edit | edit source]
- Most cases are sporadic.
- In addition, the syndrome is genetically heterogeneous[2].
- CDLS 1 is caused by a mutation in geneNIPBL (5p13.1) and shows autosomal dominant inheritance[2].
- CDLS 2 is caused by a mutation in the SMC1A gene (Xp11.22-p11.21) and shows X-linked inheritance[2].
CDLS 1[edit | edit source]
Characteristics:
- Diffuse muscle hypertrophy;
- extrapyramidal disorders;
- psychomotor retardation.
CDLS 2[edit | edit source]
Characteristics:
- Brachycephaly;
- thick fused eyebrows;
- long eyelashes;
- epicants;
- hypoplastic lower jaw;
- oligophrenia;
- spina bifida occulta;
- syndactyly.
Links[edit | edit source]
References[edit | edit source]
- ↑ ENERSEN, Ole Daniel. Whonamed - Cornelia Catharina de Lange [online]. [cit. 2011-05-03]. <http://www.whonamed.com/doctor.cfm/1059.html>.
- ↑ a b c OMIM : CORNELIA DE LANGE SYNDROME [database]. Johns Hopkins University. [cit. 2011-05-03]. <http://omim.org/entry/122470>.
References[edit | edit source]
- LAZOVSKIS, Ilmars – DOBIÁŠ, Wenceslas. Overview of clinical symptoms and syndromes. 2. edition. Avicenum, healthcare publishing house, 1990. pp. 581. ISBN 80-201-0043-1.
