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short stature-valvular heart disease-characteristic facies syndrome

MeSH: C565094ORPHA: 2868

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 short stature-valvular heart disease-characteristic facies syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormality of the dentitionHigh palatePtosisDental crowdingMitral valve prolapsePulmonic stenosisAbnormal heart valve morphologyDelayed skeletal maturationDisproportionate short statureClinodactyly of the 5th fingerLarge faceSmall handHypotoniaJoint hypermobility

Classification & Codes

MeSH Code

C565094

Orphanet Code

ORPHA:2868
short stature-valvular heart disease-characteristic facies syndrome
MeSHC565094
OrphanetORPHA:2868
Treatments0 drug(s)
Symptoms on record14 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO