short rib-polydactyly syndrome—2

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short rib-polydactyly syndrome—22016-11-28T03:56:29+00:00

short rib-polydactyly syndrome—2 

GENETICS, PAEDIATRICS

An autosomal recessive lethal skeletal dysplasia (OMIM:263520) characterised by markedly shortened ribs, short limbs, polydactyly, and multiple anomalies including a narrow thorax with hypoplastic lungs, extreme polysyndactyly, dysproportionate dwarfism, median cleft lip and palate, a ventriculoseptal defect and cystic kidneys. 

Imaging Shortened and horizontal ribs, squared scapulae and elevated clavicles with lateral kinking, normal spine and pelvis configuration, and shortening of the bones of all four extremities, with extreme reduction of tibial bone length. 

Molecular pathology Defects in NEK1, which encodes an enzyme thought to have a role in controlling meiosis, and cilia assembly, cause short rib-polydactyly syndrome—2

Synonyms Majewski syndrome, neonatal chondrodystrophy, polydactyly 2, polydactyly II, polydactyly with neonatal chondrodystrophy type II, short rib-polydactyly syndrome—Majewski type, short rib-polydactyly syndrome type II 

References http://www.uniprot.org/uniprot/Q96PY6 

http://www.omim.org/entry/263520

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