autosomal recessive distal osteolysis syndrome
Findings
No curated finding names autosomal recessive distal osteolysis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive distal osteolysis syndrome is an early-onset distal osteolysis characterized 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.
Definition from the Mondo Disease Ontology (MONDO:0009810), read 2026-09-29. CC BY 4.0.
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of the dentitionHPOHP:0000164
- Very frequent (80% to 99% of cases)
- Broad nasal tipHPOHP:0000455
- Very frequent (80% to 99% of cases)
- Hypoplasia of the maxillaHPOHP:0000327
- Very frequent (80% to 99% of cases)
- Midface retrusionHPOHP:0011800
- Very frequent (80% to 99% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Very frequent (80% to 99% of cases)
- OsteolysisHPOHP:0002797
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: autosomal recessive distal osteolysis syndrome
- Also called
- distal osteolysis-short stature-intellectual disability syndromePetit-Fryns syndrome