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Beemer-Ertbruggen syndrome

MeSH: C537668ORPHA: 1237

Contents

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

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 Beemer-Ertbruggen syndrome, sourced from HPO and Orphanet clinical annotations.

Posteriorly rotated earsCryptorchidismMicrognathiaBulbous noseWide nasal bridgeDeep philtrumRespiratory insufficiencyIncreased bone mineral densityAbnormal cardiovascular system morphologyAmbiguous genitaliaHypotoniaCommunicating hydrocephalusThrombocytopenia

Classification & Codes

MeSH Code

C537668

Orphanet Code

ORPHA:1237
Beemer-Ertbruggen syndrome
MeSHC537668
OrphanetORPHA:1237
Treatments0 drug(s)
Symptoms on record13 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO