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Short rib-polydactyly syndrome, Verma-Naumoff type

Disease definition

Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, abnormal cloacal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period.

ORPHA:93271

Classification level: Disorder
  • Synonym(s):
    • Short rib-polydactyly syndrome type 3
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q77.2
  • OMIM: 613091  614091  615503  615633
  • UMLS: C0432197
  • MeSH: C537602
  • GARD: 4835
  • MedDRA: -

Detailed information

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