microbrachycephaly-ptosis-cleft lip syndrome
ORPHA: 2511
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 microbrachycephaly-ptosis-cleft lip syndrome, sourced from HPO and Orphanet clinical annotations.
Large fontanellesBrachycephalyMicrocephalyDelayed cranial suture closureMalar flatteningNarrow faceLong faceMandibular prognathiaHearing abnormalityNarrow nasal bridgeStrabismusPtosisAbnormality of the earHypotelorismPectus excavatumBrachydactylyAbnormal finger morphologyAbnormal thumb morphologyIntellectual disabilityGlobal developmental delaySpecific learning disabilityScoliosisAbnormality of the wristAbnormal pubic bone morphologySevere short statureShort palmFlat occiputAbnormal metacarpal morphologyBilateral single transverse palmar creasesLarge iliac wingShagreen patchUnderdeveloped supraorbital ridgesAbnormal zygomatic bone morphologyUnilateral cleft lipHyperlordosisCone-shaped epiphysis
Classification & Codes
Orphanet Code
ORPHA:2511microbrachycephaly-ptosis-cleft lip syndrome
| Orphanet | ORPHA:2511 |
| Treatments | 0 drug(s) |
| Symptoms on record | 36 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO