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GENATLAS PHENOTYPE

last update : 12-12-2013

Symbol	SRPS3B
Location	9q34.11
Name	short rib-polydactyly syndrome type III B
Other name(s)	Verma-Naumoff syndrome Jeune asphyxiating thoracic dystrophy Short-rib thoracic dysplasia 11
Corresponding gene	WDR34
Other symbol(s)	SRTD11
Main clinical features	perinatal death of asphyxia due to thoracic narrowing chondrodysplasia, often leads to death in infancy because of a severely constricted thoracic cage and respiratory insufficiency, post axial polydactyly and shortened long bones with some metaphyseal spikes radiographically, shortened horizontal ribs, a trident pelvis, and metaphyseal spikes at the lateral ends of the femora
Genetic determination	autosomal recessive
Function/system disorder	osteo-articular
Type	disease

Remark(s)