DeLange syndrome

Dutch pediatrician Cornelia Catharina De Lange described two syndromes named De Lange Syndrome I and II (CDLS 1 and 2).

Genetics:
 * OMIM: 122470 (CDLS 1) and OMIM: 300590 (CDLS 2)
 * Most cases are sporadic. In addition, the syndrome is genetically heterogeneous . CDLS 1 is caused by a mutation in geneNIPBL (5p13.1) and shows autosomal dominant inheritance . CDLS 2 is caused by a mutation in the SMC1A gene (Xp11.22-p11.21) and shows X-linked inheritance.

CDLS 1
Characteristics:
 * Diffuse muscle hypertrophy;
 * extrapyramidal disorders;
 * psychomotor retardation.

CDLS 2
Characteristics:
 * Brachycephaly;
 * thick fused eyebrows;
 * long eyelashes;
 * epicants;
 * hypoplastic lower jaw;
 * oligophrenia;
 * spina bifida occulta;
 * syndactyly.