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anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis

MeSH: C537694ORPHA: 2321

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 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis, sourced from HPO and Orphanet clinical annotations.

Abnormality of the genital systemMicrocephalyRound faceWide nasal bridgeTelecanthusHypothyroidismAbnormal skull morphologyDry skinIntellectual disabilityHypotoniaCerebellar hypoplasiaLow posterior hairlineRecurrent respiratory infectionsTracheal stenosisAbnormal form of the vertebral bodiesDepressed nasal bridgeAplasia/Hypoplasia of the corpus callosum

Classification & Codes

MeSH Code

C537694

Orphanet Code

ORPHA:2321
anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
MeSHC537694
OrphanetORPHA:2321
Treatments0 drug(s)
Symptoms on record17 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO