maternal 14q32.2 microdeletion syndrome
ORPHA: 254528
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 maternal 14q32.2 microdeletion syndrome, sourced from HPO and Orphanet clinical annotations.
Global developmental delayPolyhydramniosThoracic hypoplasiaCoat hanger sign of ribsFeeding difficultiesInguinal herniaFlexion contractureJoint hypermobilityUmbilical herniaDiastasis rectiRespiratory failureLarge placentaPostnatal growth retardationHydronephrosisMacroglossiaOpen mouthRetrognathiaEpicanthusBroad foreheadNarrow foreheadAnteverted naresEsotropiaPectus excavatumProminent sternumSingle transverse palmar creaseWrist flexion contractureHypotoniaOmphaloceleLaryngomalaciaOverlapping toeExaggerated cupid's bowDepressed nasal bridgeRedundant neck skinLong toeCamptodactylyFlexion contracture of fingerNarrow palpebral fissureIntrauterine growth retardation
Classification & Codes
Orphanet Code
ORPHA:254528maternal 14q32.2 microdeletion syndrome
| Orphanet | ORPHA:254528 |
| Treatments | 0 drug(s) |
| Symptoms on record | 38 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO