short rib-polydactyly syndrome type 2

(redirected from SRP2)

short rib-polydactyly syndrome type 2

An autosomal recessive, lethal skeletal dysplasia (OMIM:263520) characterised by markedly short 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 type 2.
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(8.) See the discussion in Jacob Hoftijzer and Karel Jongeling, Dictionary of North-West Semitic Inscriptions (Leiden: Brill, 1995) [henceforth: DNWSf], 976 s.v, srp2. Lindenberger (Letters, 68) suggests 'rhinestone(?)'.
* the workstation SRP1 and the workstation SRP2 are the components of the Robotic cell,
These deficiencies may have contributed to the decline in follow-on efforts to develop the SRP2 standard.