acrodysostosis
MeSH: C538179ORPHA: 950
Overview
dysostosis that results in shortening of interphalangeal joints located in hand or located in foot along with mental deficiency
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with acrodysostosis, sourced from HPO and Orphanet clinical annotations.
Open mouthHypoplasia of the maxillaWide nasal bridgeDepressed nasal ridgeBrachydactylyIntellectual disabilityAbnormal nail morphologyShort toeShort noseAbnormal form of the vertebral bodiesShort statureDepressed nasal bridgeAccelerated skeletal maturationAbnormal metacarpal morphologyShort metacarpalCone-shaped epiphysisEpiphyseal stipplingShort metatarsalMidface retrusionCryptorchidismAbnormal female external genitalia morphologyBrachycephalyMandibular prognathiaHypertelorismHearing impairmentAnteverted naresTelecanthusDelayed eruption of teethAbnormal diaphysis morphologyAbnormal metaphysis morphologyJoint dislocationFrontal bossingCoxa valgaAbnormal morphology of the radiusAbnormal femur morphologyGenu varumMicromeliaHypoplasia of the radiusHypoplasia of the ulnaSpinal canal stenosisCone-shaped metacarpal epiphysesBowing of the long bonesPeripheral neuropathyAbnormality of immune system physiologyProminent foreheadAbnormal morphology of ulnaHypogonadismEpicanthusIrregular menstruationMelanocytic nevusScoliosisOpen biteFlat face
Classification & Codes
MeSH Code
C538179Orphanet Code
ORPHA:950acrodysostosis
| MeSH | C538179 |
| Orphanet | ORPHA:950 |
| Treatments | 0 drug(s) |
| Symptoms on record | 53 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO