XK aprosencephaly

MeSH: C536767ORPHA: 3469

Overview

congenital disorder

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 XK aprosencephaly, sourced from HPO and Orphanet clinical annotations.

Narrow mouthMicrocephalyMicrophthalmiaAbnormality of the pharynxAbnormal external genitalia morphologyAnal atresiaAbnormal morphology of the radiusAbnormal nostril morphologyHypotelorismPolyhydramniosVentricular septal defectAtrial septal defect

Classification & Codes

MeSH Code

C536767

Orphanet Code

ORPHA:3469
XK aprosencephaly
MeSHC536767
OrphanetORPHA:3469
Treatments0 drug(s)
Symptoms on record12 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO