OrphanDrug
OrphanDrug
Pharma Knowledge Base

autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome

ORPHA: 440354

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 autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome, sourced from HPO and Orphanet clinical annotations.

Cleft palateMicrognathiaNarrow chestUpper airway obstructionMicromeliaRhizomeliaGlossoptosisSensorineural hearing impairmentProptosisHypoplastic scapulaeDumbbell-shaped long boneBrachydactylyPremature birthFrontal bossingFemoral bowingMetaphyseal wideningShort femurHigh myopiaMidface retrusion

Classification & Codes

Orphanet Code

ORPHA:440354
autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
OrphanetORPHA:440354
Treatments0 drug(s)
Symptoms on record19 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO