OrphanDrug
OrphanDrug
Pharma Knowledge Base

conductive deafness-ptosis-skeletal anomalies syndrome

MeSH: C535993ORPHA: 3236

Contents

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

Overview

medical condition

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 conductive deafness-ptosis-skeletal anomalies syndrome, sourced from HPO and Orphanet clinical annotations.

Abnormal palate morphologyEpicanthusConductive hearing impairmentAtresia of the external auditory canalNarrow nasal bridgePtosisMyopiaBlepharophimosisAbnormal dental enamel morphologyFine hairElbow dislocationAbnormal hip bone morphologyClinodactyly of the 5th fingerAbnormal dermatoglyphicsBilateral single transverse palmar creasesAplasia/Hypoplasia of the middle ear

Classification & Codes

MeSH Code

C535993

Orphanet Code

ORPHA:3236
conductive deafness-ptosis-skeletal anomalies syndrome
MeSHC535993
OrphanetORPHA:3236
Treatments0 drug(s)
Symptoms on record16 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
conductive deafness-ptosis-skeletal anomalies syndrome | OrphanDrug