antenatal multiminicore disease with arthrogryposis multiplex congenita
ORPHA: 178148
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 antenatal multiminicore disease with arthrogryposis multiplex congenita, sourced from HPO and Orphanet clinical annotations.
CryptorchidismHigh palateDolichocephalyLow-set earsProminent nasal bridgeWebbed neckShort neckSingle transverse palmar creaseFlexion contractureBell-shaped thoraxRespiratory insufficiencyDelayed gross motor developmentScoliosisReduced vital capacityArthrogryposis multiplex congenitaAxial muscle weaknessMinicore myopathyAbnormality of the palpebral fissuresClinodactylyIncreased endomysial connective tissueKyphosis
Classification & Codes
Orphanet Code
ORPHA:178148antenatal multiminicore disease with arthrogryposis multiplex congenita
| Orphanet | ORPHA:178148 |
| Treatments | 0 drug(s) |
| Symptoms on record | 21 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO