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immunodeficiency-centromeric instability-facial anomalies syndrome 1

MeSH: C537362ORPHA: 2268

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 immunodeficiency-centromeric instability-facial anomalies syndrome 1, sourced from HPO and Orphanet clinical annotations.

MacroglossiaMacrocephalyEpicanthusHypertelorismMicrognathiaLow-set earsIntellectual disabilityGlobal developmental delayCommunicating hydrocephalusUmbilical herniaAbnormality of neutrophilsDecreased total lymphocyte countAnemiaMalabsorptionRecurrent respiratory infectionsImmunodeficiencyAbnormality of chromosome stabilityDecreased circulating immunoglobulin concentrationShort statureDepressed nasal bridgeCellular immunodeficiencyProtruding tongueFlat face

Classification & Codes

MeSH Code

C537362

Orphanet Code

ORPHA:2268
immunodeficiency-centromeric instability-facial anomalies syndrome 1
MeSHC537362
OrphanetORPHA:2268
Treatments0 drug(s)
Symptoms on record23 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO