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References OMIM Gene GeneReviews HGMD HGNC
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
    Type disease
  • 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