crouzonodermoskeletal syndrome
MeSH: C567382ORPHA: 93262
Overview
autosomal dominant disease characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has material basis in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16
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 crouzonodermoskeletal syndrome, sourced from HPO and Orphanet clinical annotations.
High foreheadAcanthosis nigricansFrontal bossingHydrocephalusBrachycephalyTurricephalyMalar flatteningHypertelorismHypoplasia of the maxillaConductive hearing impairmentChoanal atresiaStrabismusPtosisProptosisBrachydactylyChiari malformationIncreased intracranial pressureAbnormal form of the vertebral bodiesAbnormal metacarpal morphologyAplasia/Hypoplasia of the cerebellumInflammatory abnormality of the eyeAbnormal palate morphologyConvex nasal ridgeVisual impairmentOptic atrophyMigraineRespiratory insufficiencyAbnormal sacrum morphology
Classification & Codes
MeSH Code
C567382Orphanet Code
ORPHA:93262crouzonodermoskeletal syndrome
| MeSH | C567382 |
| Orphanet | ORPHA:93262 |
| Treatments | 0 drug(s) |
| Symptoms on record | 28 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO