autosomal recessive distal osteolysis syndrome

MeSH: C536052ORPHA: 2776

Available Treatments (0)

No treatments linked yet

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Clinical Presentation

Signs and symptoms associated with autosomal recessive distal osteolysis syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormality of the dentitionHypoplasia of the maxillaBroad nasal tipProptosisMild intellectual disabilityOsteolysisShort statureShort distal phalanx of fingerMidface retrusion

Classification & Codes

MeSH Code

C536052

Orphanet Code

ORPHA:2776
autosomal recessive distal osteolysis syndrome
MeSHC536052
OrphanetORPHA:2776
Treatments0 drug(s)
Symptoms on record9 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO