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Cleidorhizomelic syndrome

Disease definition

Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.

ORPHA:1453

Classification level: Disorder
  • Synonym(s):
    • Rhizomelic shortness with clavicular defect
    • Wallis-Zieff-Goldblatt syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q77.8
  • OMIM: 119650
  • UMLS: C1861515
  • MeSH: C536428
  • GARD: 5532
  • MedDRA: -

  A summary on this disease is available in Deutsch (2014) Español (2014) Français (2014) Italiano (2014) Nederlands (2014) Polski (2014, pdf) Russian (2014, 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.