combined immunodeficiency with faciooculoskeletal anomalies

MeSH: C567641ORPHA: 221139

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
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 combined immunodeficiency with faciooculoskeletal anomalies, sourced from HPO and Orphanet clinical annotations.

Decreased specific antibody response to vaccinationDecreased CD4+ T cell proportionClinodactyly of the 2nd fingerClinodactyly of the 3rd fingerClinodactyly of the 4th fingerReduced total natural killer cell countNasogastric tube feedingPalpebral edemaRecurrent ear infectionsFrontal bossingDiarrheaFlat foreheadRecurrent urinary tract infectionsUnilateral renal agenesisAbnormality of the chinHypertelorismHigh foreheadProtruding earWide nasal bridgeBroad nasal tipAnteverted naresDeeply set eyeOptic nerve hypoplasiaAbnormality of the skeletal systemOsteopeniaHyperpigmentation of the skinHypertrichosisIntellectual disabilityAtaxiaGlobal developmental delayNeonatal hypotoniaArthritisUmbilical herniaPes cavusAbnormal facial shapeGastroesophageal refluxMyopathic faciesIntention tremorRecurrent aspiration pneumoniaVentriculomegalyGeneralized myoclonic seizureLow posterior hairlinePositive Romberg signNeonatal respiratory distressRecurrent bacterial infectionsRecurrent fungal infectionsDecreased circulating total IgMHyperlordosisDecreased circulating total IgAPsoriasiform dermatitisDecreased circulating immunoglobulin concentrationRecurrent viral infectionsDepressed nasal bridgeCombined immunodeficiencyWide intermamillary distanceLacrimal duct stenosisChronic oral candidiasisShort distal phalanx of the thumbBroad middle phalanx of fingerUnderdeveloped supraorbital ridgesThin lower lip vermilionCone-shaped epiphysisDermatochalasisDecreased total B cell countAbnormal T cell subset distributionAberrant right subclavian arteryDecreased mitogen-induced T-cell proliferationDecreased anti-CD3/28-induced T-cell proliferationDecreased circulating total IgG concentration

Classification & Codes

MeSH Code

C567641

Orphanet Code

ORPHA:221139

combined immunodeficiency with faciooculoskeletal anomalies

MeSH	`C567641`
Orphanet	`ORPHA:221139`
Treatments	0 drug(s)
Symptoms on record	69 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO