maternal phenylketonuria
MeSH: D017042ORPHA: 2209
Overview
condition occurring in untreated or partially treated females with phenylketonuria when they become pregnant
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 maternal phenylketonuria, sourced from HPO and Orphanet clinical annotations.
Abnormal heart morphologyMicrocephalyIntellectual disabilityGlobal developmental delayIntrauterine growth retardationCoarctation of aortaAbnormal facial shapeHypoplastic left ventricleHigh palateLong philtrumMicrognathiaWide nasal bridgeAnteverted naresHyperactivitySeizureVentricular septal defectTetralogy of FallotDouble outlet right ventricleHypoplasia of the corpus callosumEpicanthusSloping foreheadStrabismusHypotelorismBrachydactylyBilateral ptosisEsophageal atresiaBladder exstrophyDeviated nasal septumHypoplastic helicesBifid distal phalanx of the thumbAbnormal renal morphologyClinodactyly
Classification & Codes
MeSH Code
D017042Orphanet Code
ORPHA:2209maternal phenylketonuria
| MeSH | D017042 |
| Orphanet | ORPHA:2209 |
| Treatments | 0 drug(s) |
| Symptoms on record | 32 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO