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autosomal recessive craniometaphyseal dysplasia

MeSH: C536570ORPHA: 1522

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

human disease

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 autosomal recessive craniometaphyseal dysplasia, sourced from HPO and Orphanet clinical annotations.

HypertelorismConductive hearing impairmentSensorineural hearing impairmentWide nasal bridgeVisual impairmentTelecanthusAbnormal metaphysis morphologyAbnormal cranial nerve morphologySkeletal dysplasiaCraniofacial hyperostosisDepressed nasal bridgeFacial palsyOsteopetrosis

Classification & Codes

MeSH Code

C536570

Orphanet Code

ORPHA:1522
autosomal recessive craniometaphyseal dysplasia
MeSHC536570
OrphanetORPHA:1522
Treatments0 drug(s)
Symptoms on record13 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO