Pseudoaminopterin syndrome
MeSH: C535823ORPHA: 221120
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 Pseudoaminopterin syndrome, sourced from HPO and Orphanet clinical annotations.
CryptorchidismHigh palateHypertelorismClinodactyly of the 4th fingerPostaxial polydactylyClubbing of fingersMicrognathiaPosteriorly rotated earsProminent nasal bridgeProptosisBlepharophimosisIntellectual disabilityFrontal upsweep of hairHighly arched eyebrowLimited elbow movementShort statureUnderdeveloped supraorbital ridgesAbnormal temporal bone morphologyPatchy reduction of bone mineral densityAbnormality of limbsInguinal herniaHorseshoe kidneyOrofacial cleftHydrocephalusMacrocephalyDolichocephalyEpicanthusShort philtrumFacial asymmetryBroad foreheadAbsent earlobeOphthalmoplegiaMicrodontiaPectus excavatumProminent sternumSingle transverse palmar creaseBrachydactylySlender fingerGlobal developmental delayHypernasal speechPatent foramen ovaleAspleniaPes planusOverlapping toeClinodactyly of the 5th toeFrontal bossingPoor suckSparse scalp hairInverted nipplesFatigable weaknessSagittal craniosynostosisTalipes valgusSynostosis of carpal bonesWide intermamillary distanceMild conductive hearing impairmentFloppy infantHypoplasia of the antihelixShort thumbShort 4th metacarpalSacrococcygeal pilonidal abnormalityNasogastric tube feeding in infancyPosterolateral diaphragmatic herniaHip subluxation
Classification & Codes
MeSH Code
C535823Orphanet Code
ORPHA:221120Pseudoaminopterin syndrome
| MeSH | C535823 |
| Orphanet | ORPHA:221120 |
| Treatments | 0 drug(s) |
| Symptoms on record | 63 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO