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cerebellar ataxia-ectodermal dysplasia syndrome

MeSH: C535350ORPHA: 1174

Contents

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

Overview

Cereballar ataxia - ectodermal dysplasia is a very rare disease, characterized by hypodontia and sparse hair in combination with cerebellar ataxia and normal intelligence. Imaging demonstrates a cerebellar atrophy.

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 cerebellar ataxia-ectodermal dysplasia syndrome, sourced from HPO and Orphanet clinical annotations.

Inguinal herniaCryptorchidismTriangular faceBroad foreheadHypodontiaMicrodontiaAtaxiaGait disturbancePes cavusAbnormal speech patternFine hairSparse hair

Classification & Codes

MeSH Code

C535350

Orphanet Code

ORPHA:1174
cerebellar ataxia-ectodermal dysplasia syndrome
MeSHC535350
OrphanetORPHA:1174
Treatments0 drug(s)
Symptoms on record12 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO