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Short rib-polydactyly syndrome, Saldino-Noonan type

Disease definition

A rare ciliopathy with major skeletal involvement characterized by short ribs with an extremely narrow thorax, very short limbs, absent or very small fibulae, severe metaphyseal dysplasia of tubular bones, post-axial polydactyly, and defective ossification in the calvaria, vertebrae, pelvis, and bones of the hands and feet. Congenital anomalies of multiple other organs have also been described, such as polycystic kidneys, transposition of the great vessels, and atretic lesions of the gastrointestinal and genitourinary tract. Hydrops fetalis may be observed at an early gestational age.

ORPHA:93270

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

Detailed information

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