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GENATLAS PHENOTYPE

last update : 05-05-2017

Symbol	CLSS2
Location	5q22.2
Name	Cenani-Lenz syndactyly 2
Corresponding gene	APC
Main clinical features	syndactyly, and variable penetrance of renal agenesis and facial dysmorphism, with a high broad, prominent forehead, hypertelorism, a depressed nasal bridge, downslanting palpebral fissures, a short nose typical limb malformations included total to partial syndactyly of hands and feet, as well as distal bone malformations affecting the radius and ulna in addition to the metacarpal and phalangeal bones
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
Type	disease

Remark(s)

reduction of APC may increase the availability of CTNNB1 by virtue of impaired degradation (PMID: 25676610))