combined immunodeficiency with faciooculoskeletal anomalies
Findings
No curated finding names combined immunodeficiency with faciooculoskeletal anomalies yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).
Definition from the Mondo Disease Ontology (MONDO:0013226), read 2026-09-29. CC BY 4.0.
Features
69 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Aberrant right subclavian arteryHPOHP:0031632
- Frequent (30% to 79% of cases)
- Abnormal facial shapeHPOHP:0001999
- Frequent (30% to 79% of cases)
- Abnormal T cell subset numberHPOHP:0025540
- Frequent (30% to 79% of cases)
- Abnormality of the chinHPOHP:0000306
- Frequent (30% to 79% of cases)
- Abnormality of the skeletal systemHPOHP:0000924
- Frequent (30% to 79% of cases)
- Anteverted naresHPOHP:0000463
- Frequent (30% to 79% of cases)
- Arthritis
Show the remaining 57
- Clinodactyly of the 3rd fingerHPOHP:0040024
- Frequent (30% to 79% of cases)
- Clinodactyly of the 4th fingerHPOHP:0040025
- Frequent (30% to 79% of cases)
- Combined immunodeficiencyHPOHP:0005387
- Frequent (30% to 79% of cases)
- Cone-shaped epiphysisHPOHP:0010579
- Frequent (30% to 79% of cases)
- Decreased anti-CD3/28-induced T-cell proliferationHPOHP:0031382
- Frequent (30% to 79% of cases)
- Decreased circulating IgM concentrationHPOHP:0002850
Where it sits
Other names
2 names
Resolves to: combined immunodeficiency with faciooculoskeletal anomalies
- Also called
- Roifman-Chitayat syndromeRoifman-Chitayat syndrome, digenic