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Autosomal recessive distal osteolysis syndrome

ORPHA2776
Synonym(s) Distal osteolysis - short stature - intellectual disability
Petit-Fryns syndrome
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10 -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

This syndrome is 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.


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