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Short rib-polydactyly syndrome, Saldino-Noonan type

Disease definition

Short rib-polydactyly syndrome (SRPS), Saldino-Noonan type is an extremely rare type of SRPS with neonatal onset characterized by polydactyly, hydropic appearance, and small thorax with short horizontal ribs causing fatal cardiorespiratory distress. Affected patients also have extreme micromelia (''flipper-like''extremities), pointed metaphyses, and a range of other ossification defects (vertebrae, calvaria, pelvis, hand and foot bones). Extraskeletal manifestations may include polycystic kidneys, transposition of the great vessels, and atresia of the gastrointestinal and genitourinary systems.

ORPHA:93270

  • Synonym(s):
    • Short rib-polydactyly syndrome type 1
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: Q77.2
  • OMIM: 613091
  • UMLS: C0036069
  • MeSH: -
  • GARD: 4834
  • MedDRA: -

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