Orphanet: Autosomal recessive distal osteolysis syndrome

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Autosomal recessive distal osteolysis syndrome

Disease definition

An early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.


Classification level: Disorder
  • Synonym(s):
    • Distal osteolysis-short stature-intellectual disability syndrome
    • Petit-Fryns syndrome
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: -
  • OMIM: 259610
  • UMLS: -
  • MeSH: -
  • GARD: 4299
  • MedDRA: -
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