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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
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Autosomal recessive distal osteolysis syndrome?
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