Macrosomia-microphthalmia-cleft palate syndrome

ICD-10: Q87.0MeSH: C537830ORPHA: 2432

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 Macrosomia-microphthalmia-cleft palate 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

C537830

Orphanet Code

ORPHA:2432
Macrosomia-microphthalmia-cleft palate syndrome
ICD-10Q87.0
MeSHC537830
OrphanetORPHA:2432
Treatments0 drug(s)
Symptoms on record15 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO