Bartsocas-Papas syndrome

MeSH: C564874ORPHA: 1234

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 Bartsocas-Papas syndrome, sourced from HPO and Orphanet clinical annotations.

Hypoplastic male external genitaliaAmbiguous genitaliaMedian cleft upper lipCleft palateMicrocephalyToe syndactylyHypoplastic toenailsTalipesFinger syndactylyAlopecia totalisAnkyloblepharonPopliteal pterygiumAplasia/Hypoplasia of the distal phalanges of the toesSynostosis of jointsAplasia/Hypoplasia of the eyebrowSparse or absent eyelashesNarrow mouthMicrognathiaUnderdeveloped nasal alaeEyelid colobomaIntellectual disabilityShort noseCorneal opacityAbsent thumbRenal hypoplasia/aplasiaAbnormal cardiovascular system morphology

Classification & Codes

MeSH Code

C564874

Orphanet Code

ORPHA:1234
Bartsocas-Papas syndrome
MeSHC564874
OrphanetORPHA:1234
Treatments0 drug(s)
Symptoms on record26 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO