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Short rib-polydactyly syndrome, Majewski type

Disease definition

A rare ciliopathy with major skeletal involvement characterized by a hypoplastic thorax with short ribs and protuberant abdomen, micromelia with particularly short tibiae with ovoid configuration, pre- and postaxial polydactyly, brachydactyly, hypoplasia or aplasia of nails, and dysmorphic craniofacial features (such as prominent forehead, low-set and malformed ears, short and flat nose, lobulated tongue, micrognathia, and cleft lip/palate). Additional reported manifestations include urogenital, gastrointestinal, cardiovascular, and cerebral malformations, among others. The condition is fatal in the neonatal period.

ORPHA:93269

Classification level: Disorder
  • Synonym(s):
    • Short rib-polydactyly syndrome type 2
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q77.2
  • OMIM: 263520  613091
  • UMLS: C0024507
  • MeSH: -
  • GARD: 4833
  • MedDRA: -

Additional information

Further information on this disease

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