Home Page
References OMIM Gene GeneReviews HGMD HGNC
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
  • reduction of APC may increase the availability of CTNNB1 by virtue of impaired degradation (PMID: 25676610))