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brachydactyly-mesomelia-intellectual disability-heart defects syndrome

ORPHA: 1277

Contents

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

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 brachydactyly-mesomelia-intellectual disability-heart defects syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormal palate morphologyMicrognathiaConvex nasal ridgeBrachydactylyAbnormal mitral valve morphologyMesomeliaAbnormal shoulder morphologyHernia of the abdominal wallTooth agenesisCognitive impairmentLong thorax

Classification & Codes

Orphanet Code

ORPHA:1277
brachydactyly-mesomelia-intellectual disability-heart defects syndrome
OrphanetORPHA:1277
Treatments0 drug(s)
Symptoms on record11 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO