Autosomal recessive distal osteolysis syndrome

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Autosomal recessive distal osteolysis syndrome

Synonyms: Distal osteolysis-short stature-intellectual disability syndrome | Petit-Fryns syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version March 2024

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