immunodeficiency-centromeric instability-facial anomalies syndrome
ORPHA: 2268
Overview
autosomal recessive disease characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases
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, 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
Orphanet Code
ORPHA:2268immunodeficiency-centromeric instability-facial anomalies syndrome
| Orphanet | ORPHA:2268 |
| Treatments | 0 drug(s) |
| Symptoms on record | 23 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO