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.

ORPHA:2776

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: M89.5
ICD-11: FB86.2
OMIM: 259610
UMLS: -
MeSH: -
GARD: 4299
MedDRA: -

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Autosomal recessive distal osteolysis syndrome

ORPHA:2776

A summary on this disease is available in Deutsch (2007) Español (2007) Français (2007) Italiano (2007) Nederlands (2007)

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