multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
ORPHA: 254519
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 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect, sourced from HPO and Orphanet clinical annotations.
Broad philtrumFull cheeksMicrognathiaAnteverted naresWebbed neckShort neckIntellectual disabilityGlobal developmental delayLimitation of joint mobilityPolyhydramniosBell-shaped thoraxDysphagiaPoor suckPoor head controlRespiratory failure requiring assisted ventilationThoracic hypoplasiaDepressed nasal bridgeLarge placentaCoat hanger sign of ribsFeeding difficultiesDelayed ability to sitPursed lipsBlepharophimosisLarge for gestational ageOmphaloceleDiastasis rectiLaryngomalaciaPremature birthFrontal bossingConstipationCoxa valgaKyphoscoliosisFrontal hirsutismInguinal herniaOvergrowthAbnormality of the cardiovascular systemHepatoblastomaMicrotiaPostnatal growth retardationSeizure
Classification & Codes
Orphanet Code
ORPHA:254519multiple congenital anomalies due to 14q32.2 maternally expressed gene defect
| Orphanet | ORPHA:254519 |
| Treatments | 0 drug(s) |
| Symptoms on record | 40 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO