craniodigital syndrome-intellectual disability syndrome

MeSH: C537528ORPHA: 1514

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 craniodigital syndrome-intellectual disability syndrome, sourced from HPO and Orphanet clinical annotations.

BrachycephalyMicrognathiaNarrow nasal bridgeLong eyelashesThick eyebrowIntellectual disabilityGeneralized hirsutismShort noseSpina bifida occultaShort statureFinger syndactylyAbnormal dermatoglyphicsAbnormal hair patternThick hair

Classification & Codes

MeSH Code

C537528

Orphanet Code

ORPHA:1514
craniodigital syndrome-intellectual disability syndrome
MeSHC537528
OrphanetORPHA:1514
Treatments0 drug(s)
Symptoms on record14 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO