ORPHA:221139
Combined immunodeficiency with facio-oculo-skeletal anomalies
Synonyms: Roifman-Chitayat syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Neonatal
- Status
- active
A 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).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency with facio-oculo-skeletal anomalies | Roifman-Chitayat syndrome |
| fr | Déficit immunitaire combiné avec anomalies facio-oculo-squelettiques | Syndrome de Roifman-Chitayat |
| de | Kombinierter Immundefekt mit fazio-okulo-skelettalen Anomalien | Roifman-Chitayat-Syndrom |
| es | Inmunodeficiencia combinada con anomalías facio-óculo-esqueléticas | Síndrome de Roifman-Chitayat |
| it | Immunodeficienza combinata con anomalie facio-oculo-scheletriche | Sindrome di Roifman-Chitayat |
| nl | Gecombineerde immuundeficiëntie met facio-oculoskeletale anomalieën | Syndroom van Roifman-Chitayat |
| pt | Imunodeficiência combinada com anomalias facio-oculo-esqueléticas | |
| pl | Złożony niedobór odporności z anomaliami twarzowo-oczno-szkieletowymi | Zespół Roifmana i Chitayat |
| cs | Kombinovaná imunodeficience s facio-okulo-skeletálními anomáliemi | Roifmanův-Chitayatův syndrom · Roifman-Chitayatův syndrom |
| uk | Комбінований імунодефіцит з лицьово-окуло-скелетними аномаліями | Синдром Ройфмана-Чітаята |
| zh | 联合免疫缺陷伴面-眼-骨骼异常 | Roifman-Chitayat综合征 |
| tr | Fasiyo-okülo-iskelet anomalileri ile seyreden kombine immün yetmezlik | Roifman-Chitayat sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613328 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | index | validated |
| MONDO | 0013226 | E | validated | |
| MeSH | C567641 | E | validated | |
| UMLS | C2750068 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:169349Immuno-osseous dysplasia
rare genetic diseases; rare immunological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:506219Rare disorder potentially indicated for hematopoietic stem cell transplant
rare transplant-related disorders - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KNSTRN | Disease-causing germline mutation(s) in | Assessed | HGNC:30767 | ENSG00000128944 | 614718 | 15q15.1 | kinetochore localized astrin (SPAG5) binding protein | 29180244[PMID] |
| PIK3CD | Disease-causing germline mutation(s) in | Assessed | HGNC:8977 | ENSG00000171608 | 602839 | 1p36.22 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | 29180244[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 19863561[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19863561[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
69 annotations · validated 2020-06-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0025540 | Abnormal T cell subset distribution | |
| HP:0001999 | Abnormal facial shape | |
| HP:0000306 | Abnormality of the chin | |
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0000463 | Anteverted nares | |
| HP:0031014 | Arteria lusoria | |
| HP:0001369 | Arthritis | |
| HP:0001251 | Ataxia | |
| HP:0009844 | Broad middle phalanx of finger | |
| HP:0000455 | Broad nasal tip | |
| HP:0009098 | Chronic oral candidiasis | |
| HP:0040022 | Clinodactyly of the 2nd finger | |
| HP:0040024 | Clinodactyly of the 3rd finger | |
| HP:0040025 | Clinodactyly of the 4th finger | |
| HP:0005387 | Combined immunodeficiency | |
| HP:0010579 | Cone-shaped epiphysis | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0003460 | Decreased circulating total IgA | |
| HP:0032132 | Decreased circulating total IgG | |
| HP:0002850 | Decreased circulating total IgM | |
| HP:0031382 | Decreased lymphocyte proliferation in response to anti-CD3 | |
| HP:0031381 | Decreased lymphocyte proliferation in response to mitogen | |
| HP:0032218 | Decreased proportion of CD4-positive T cells | |
| HP:0032140 | Decreased specific antibody response to vaccination | |
| HP:0010976 | Decreased total B cell count | |
| HP:0000490 | Deeply set eye | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0010750 | Dermatochalasis | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0001263 | Global developmental delay | |
| HP:0000348 | High forehead | |
| HP:0003307 | Hyperlordosis | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0000316 | Hypertelorism | |
| HP:0000998 | Hypertrichosis | |
| HP:0001249 | Intellectual disability | |
| HP:0002080 | Intention tremor | |
| HP:0007678 | Lacrimal duct stenosis | |
| HP:0002162 | Low posterior hairline | |
| HP:0002058 | Myopathic facies | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0000938 | Osteopenia | |
| HP:0100540 | Palpebral edema | |
| HP:0001761 | Pes cavus | |
| HP:0002403 | Positive Romberg sign | |
| HP:0000411 | Protruding ear | |
| HP:0003765 | Psoriasiform dermatitis | |
| HP:0002100 | Recurrent aspiration pneumonia | |
| HP:0002718 | Recurrent bacterial infections | |
| HP:0410018 | Recurrent ear infections | |
| HP:0002841 | Recurrent fungal infections | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0004429 | Recurrent viral infections | |
| HP:0040218 | Reduced natural killer cell count | |
| HP:0009650 | Short distal phalanx of the thumb | |
| HP:0010282 | Thin lower lip vermilion | |
| HP:0001537 | Umbilical hernia | |
| HP:0009891 | Underdeveloped supraorbital ridges | |
| HP:0000122 | Unilateral renal agenesis | |
| HP:0002119 | Ventriculomegaly | |
| HP:0006610 | Wide intermamillary distance | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0002014 | Diarrhea | |
| HP:0004425 | Flat forehead | |
| HP:0002007 | Frontal bossing | |
Annotation source: 29180244[PMID]_19863561[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/221139
- This record as JSON: /data/d/221139.json