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arthrogryposis multiplex congenita-whistling face syndrome

MeSH: C538401ORPHA: 1150

Contents

  1. 1. Available Treatments
  2. 2. Clinical Presentation
  3. 3. Classification & Codes

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 arthrogryposis multiplex congenita-whistling face syndrome, sourced from HPO and Orphanet clinical annotations.

Posteriorly rotated earsNarrow mouthThin vermilion borderFull cheeksWhistling appearanceBlepharophimosisAdducted thumbSeizureHypotoniaJoint stiffnessPolyhydramniosAbnormal shoulder morphologyShort statureSevere global developmental delayPierre-Robin sequenceMicrognathiaIntrauterine growth retardationEEG abnormalityAbnormal palate morphologyHearing abnormalityAbnormality of the noseAbnormal fingernail morphologyDownturned corners of mouthDimple chin

Classification & Codes

MeSH Code

C538401

Orphanet Code

ORPHA:1150
arthrogryposis multiplex congenita-whistling face syndrome
MeSHC538401
OrphanetORPHA:1150
Treatments0 drug(s)
Symptoms on record24 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
arthrogryposis multiplex congenita-whistling face syndrome | OrphanDrug