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Angel-shaped phalango-epiphyseal dysplasia

Orpha number ORPHA63442
Synonym(s) ASPED
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset All ages
ICD-10
  • Q78.8
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA
  • 10066017

Summary

Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of multiple epiphyseal dysplasia characterised radiologically by angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile and epiphyseal changes in the hips. The prevalence is unknown but ASPED is a rare disease with less than 20 cases reported in the literature, however, it is likely to be underdiagnosed. Angel-shaped middle phalanges is an isolated bone anomaly, similar to that observed in non-syndromic type 12 cone-shaped epiphyses. Clinical manifestations in ASPED are not only restricted to the hands, and the original description reported various combinations of angel-shaped phalanges, hip dysplasia and hypodontia. Patient stature ranges from short to normal. Osteoarthritis of the hips can be significant with severe intermittent hip pain. Hyperextensible interphalangeal joints of the fingers have been reported, as well as retarded bone age. Late eruption of deciduous teeth or persistent primary lower incisors have been described. Hypodontia was reported in 4 out of 7 patients in one cohort, where it is found in 1.6 to 9.6% of individuals in the general population. ASPED is caused by mutations in the CDMP1 gene (chromosome 20q11.2) and is transmitted as an autosomal dominant condition. Diagnostic methods include skeletal x-rays and CDMP1 molecular analysis. The differential diagnosis involves brachydactyly type C. Treament may involve orthopaedic management but the prognosis is good.

Expert reviewer(s)

  • Dr Muriel HOLDER-ESPINASSE

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