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References OMIM Gene GeneReviews HGMD HGNC
last update : 15-10-2013
Symbol SRPS6
Location 7q36.3
Name short rib-polydactyly syndrome type 6
Other name(s) Short-rib thoracic dysplasia 8
Corresponding gene WDR60
Other symbol(s) SRTD8
Main clinical features
  • short long bones on ultrasound at 16 weeks gestation with polyhydramnios, severe shortening of long bones with bowed femurs, macrocephaly, short ribs, and ambiguous genitalia
  • postaxial polydactyly syndactyly of some fingers and toes, acetubular spurs, pancreatic fibrosis, mild dilatation of renal tubules, and enlarged liver with ductal plate malformation; also brachydactyly, conical epiphyses, hypoplastic trabecular, depressed nasal bridge, ventricular septal defect (VSD), focal cystic changes in the kidneys, prominent bile duct plates, and early evidence of pulmonary hypoplasia
  • Genetic determination autosomal recessive
    Function/system disorder
    Type disease