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References OMIM Gene GeneReviews HGMD HGNC
last update : 23-01-2018
Symbol SSSCH
Location 20p12.3
Name short stature, skeletal anomalies, and congenital heart disease
Corresponding gene BMP2
Main clinical features
  • short stature, palatal anomalies, congenital heart disease or arrhythmia, and skeletal malformations
  • facial dysmorphism with broad forehead, temporal narrowing, midface hypoplasia, short nose, anteverted nares, long philtrum, thin upper lip, palatal anomalies, dental crowding
  • skeletal anomalies, with 11 pairs of ribs, phalangeal abnormalities, normal bone biochemistry, and normal intellect
  • frequent obstructive sleep apnea
  • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    Type disease