Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 16-05-2009
Symbol CCMLS
Location 17q25.1
Name cerebrocostomandibular-like syndrome
Other name(s)
  • rib gap defects with micrognathia
  • CCM syndrome
  • Corresponding gene COG1
    Other symbol(s) CCMS
    Main clinical features
  • severe micrognathia, rib defects and mental retardation
  • growth retardation, palatal defects or Pierre–Robin sequence, vertebral anomalies, microcephaly and feeding difficulties
  • hypoplastic humerus, sacral fusion and flask-shaped configuration of the pelvis, hemivertebrae, clubfoot, hip dislocation, elbow dysplasia, pectus carinatum, hypoplasia of the sternum,
  • Genetic determination autosomal recessive
    Function/system disorder mental retardation
    osteo-articular
    Type disease
    Remark(s)