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
C564874Orphanet Code
ORPHA:1234Bartsocas-Papas syndrome
| MeSH | C564874 |
| Orphanet | ORPHA:1234 |
| Treatments | 0 drug(s) |
| Symptoms on record | 26 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO