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extrasystoles-short stature-hyperpigmentation-microcephaly syndrome

MeSH: C565032ORPHA: 1964

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 extrasystoles-short stature-hyperpigmentation-microcephaly syndrome, sourced from HPO and Orphanet clinical annotations.

MicrocephalyHypertelorismMicrognathiaStrabismusDelayed skeletal maturationShort staturePremature ventricular contractionBacterial endocarditisIrregular hyperpigmentationAbnormal dermatoglyphicsBilateral single transverse palmar creasesTooth agenesisHeart block

Classification & Codes

MeSH Code

C565032

Orphanet Code

ORPHA:1964
extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
MeSHC565032
OrphanetORPHA:1964
Treatments0 drug(s)
Symptoms on record13 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO