Greig cephalopolysyndactyly syndrome

ICD-10: Q87.0MeSH: C537300ORPHA: 2432

Overview

acrocephalosyndactylia that has material basis in mutation in the GLI3 gene which results in abnormal development located in limb, located in head, located in face

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 Greig cephalopolysyndactyly syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormal cranial suture/fontanelle morphologyBroad foreheadMicrocorneaMicrophthalmiaLarge for gestational ageRecurrent respiratory infectionsHepatomegalyRespiratory insufficiencyAbnormal calvaria morphologyCorneal opacityMedian cleft palatePtosisCraniosynostosisHypotelorismGlossoptosis

Classification & Codes

ICD-10 Code

Q87.0

MeSH Code

C537300

Orphanet Code

ORPHA:2432
Greig cephalopolysyndactyly syndrome
ICD-10Q87.0
MeSHC537300
OrphanetORPHA:2432
Treatments0 drug(s)
Symptoms on record15 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO