Pai syndrome

MeSH: C536135ORPHA: 1993

Overview

Median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome

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 Pai syndrome, sourced from HPO and Orphanet clinical annotations.

Median cleft upper lipCleft palateAbnormal oral frenulum morphologyBifid uvulaHypertelorismDownslanted palpebral fissuresTelecanthusIris colobomaSubcutaneous noduleEncephaloceleMidline defect of the noseDepressed nasal bridgeMidline central nervous system lipomasAplasia/Hypoplasia of the corpus callosumSkin tagsNasal polyposis

Classification & Codes

MeSH Code

C536135

Orphanet Code

ORPHA:1993
Pai syndrome
MeSHC536135
OrphanetORPHA:1993
Treatments0 drug(s)
Symptoms on record16 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO