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Short rib-polydactyly syndrome, Verma-Naumoff type

Disease definition

A rare ciliopathy with major skeletal involvement characterized by short ribs and extremely narrow thorax, severely shortened tubular bones with round metaphyseal ends and lateral spikes, and anomalies of multiple organs such as the heart, kidneys, liver, pancreas, intestine, and genitalia, with occasional occurrence of situs inversus totalis. Cleft lip/palate and polydactyly may also be present. The syndrome is fatal prenatally or 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
  • ICD-11: LD24.B0
  • OMIM: 613091  614091  615503  615633
  • UMLS: C0432197
  • MeSH: C537602
  • GARD: 4835
  • MedDRA: -

  A summary on this disease is available in Italiano (2015) Español (2020) Français (2020) Nederlands (2020) Polski (2017, pdf)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.