overgrowth-macrocephaly-facial dysmorphism syndrome
ORPHA: 137634
Overview
This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism
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 overgrowth-macrocephaly-facial dysmorphism syndrome, sourced from HPO and Orphanet clinical annotations.
Tall statureThick lower lip vermilionThin upper lip vermilionMacrocephalyBroad foreheadLong philtrumBroad nasal tipDownslanted palpebral fissuresLarge for gestational ageOvergrowthAbnormal facial shapeCranial asymmetryHearing impairmentStrabismusOptic nerve hypoplasiaAutistic behaviorAbnormal sternum morphologyPectus carinatumMild intellectual disabilityAbnormal pulmonary valve morphologyPulmonic stenosisAccelerated skeletal maturationAplasia/Hypoplasia of the optic nerveSpeech apraxiaUnilateral cryptorchidismAbnormal cardiovascular system morphology
Classification & Codes
Orphanet Code
ORPHA:137634overgrowth-macrocephaly-facial dysmorphism syndrome
| Orphanet | ORPHA:137634 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO