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GENATLAS PHENOTYPE

last update : 17-09-2015

Symbol	SRPS2
Location	4q33
Name	short rib-polydactyly syndrome type II
Other name(s)	short rib-polydactyly syndrome Type Majewski short-rib thoracic dysplasia 6
Corresponding gene	NEK1
Other symbol(s)	SRTD6
Main clinical features	severe extreme shortening of the ribs with a narrow thorax, a bulging forehead, depressed nasal bridge, and median cleft, extreme pre- and postaxial polysyndactyly with seven fingers and toes ventriculoseptal defect and cystic kidneys radiographic hallmarks included shortened and horizontal ribs, squared scapulae and elevated clavicles with lateral kinking, normal spine and pelvis, and shortening of the bones of all four extremities, with extreme reduction of tibial bone length
Genetic determination	autosomal recessive
Related entries	including families with heterozygous mutations in NEK1 and DYNC2H1 (PMID: 21211617)
Function/system disorder	kidney and urinary tract
	osteo-articular
Type	disease

Remark(s)

defect in ciliogenesis of NEK1 mutated cells might be located in the progression from stage 1 after vesicular accumulation to stage 2 and subsequent axoneme growth