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Short rib-polydactyly syndrome, Saldino-Noonan type

ORPHA93270
Synonym(s) Short rib-polydactyly syndrome type 1
Prevalence -
Inheritance Autosomal recessive
Age of onset -
ICD-10
  • Q77.2
OMIM
UMLS -
MeSH -
MedDRA -

Summary

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.

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