ORPHA:353298
Roifman syndrome
Synonyms: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, genetic immuno-osseous dysplasia associated with pre- and post-natal growth retardation, retinopathy, microcephaly, intellectual disability and dysmorphic features.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Roifman syndrome | Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome |
| fr | Syndrome de Roifman | Syndrome de dysplasie spondylo-épiphysaire-dystrophie rétinienne-déficit immunitaire · Syndrome de dysplasie spondylo-épiphysaire-dystrophie rétinienne-immunodéficience |
| de | Roifman-Syndrom | |
| es | Síndrome de Roifman | Displasia espondiloepifisaria-distrofia retiniana-inmunodeficiencia |
| it | Sindrome di Roifman | Displasia spondiloepifisaria - distrofia retinica - immunodeficienza |
| nl | Syndroom van Roifman | Spondylo-epifysaire dysplasie - retinale dystrofie - immuundeficiëntie-syndroom |
| pt | Síndrome de Roifman | |
| pl | Zespół Roifmana | Dysplazja kręgowo-nasadowa - dystrofia siatkówki - Niedobór odporności |
| cs | Roifmanův syndrom | Syndrom zahrnující spondylepifyzární dysplázii, dystrofii sítnice a imunodeficienci |
| uk | Синдром Ройфмана | Синдром спондилоепіфізарної дисплазії - дистрофії сітківки - імунодефіциту |
| zh | 罗夫曼综合征 | 脊柱骨骺发育不良-视网膜营养不良-免疫缺陷综合征 |
| tr | Roifman sendromu | Spondiloepifizyal displazi-retinal distrofi-immün yetmezlik sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616651 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | 4A01.32 | NTBT | attributed | validated |
| MONDO | 0014722 | E | validated | |
| MeSH | C535866 | E | validated | |
| UMLS | C1846059 | E | validated | |
| GARD | 9163 | 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 (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
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:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RNU4ATAC | Disease-causing germline mutation(s) in | Assessed | HGNC:34016 | ENSG00000264229 | 601428 | 2q14.2 | RNA, U4atac small nuclear | 26522830[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | 16901296[PMID]_21977988[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
39 annotations · validated 2019-05-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0004625 | Biconvex vertebral bodies | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0001156 | Brachydactyly | |
| HP:0008804 | Broad femoral head | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0004313 | Decreased circulating antibody level | |
| HP:0008828 | Delayed proximal femoral epiphyseal ossification | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0002656 | Epiphyseal dysplasia | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0003273 | Hip contracture | |
| HP:0410170 | Hippocampal atrophy | |
| HP:0001795 | Hyperconvex nail | |
| HP:0000316 | Hypertelorism | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001880 | Increased total eosinophil count | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0005041 | Irregular capital femoral epiphysis | |
| HP:0000637 | Long palpebral fissure | |
| HP:0000343 | Long philtrum | |
| HP:0002716 | Lymphadenopathy | |
| HP:0000252 | Microcephaly | |
| HP:0000446 | Narrow nasal bridge | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0011231 | Prominent eyelashes | |
| HP:0000403 | Recurrent otitis media | |
| HP:0006532 | Recurrent pneumonia | |
| HP:0000556 | Retinal dystrophy | |
| HP:0004322 | Short stature | |
| HP:0001831 | Short toe | |
| HP:0002655 | Spondyloepiphyseal dysplasia | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000430 | Underdeveloped nasal alae | |
| Very rare (<4-1%) | ||
| HP:0012817 | Noncompaction cardiomyopathy | |
| Excluded (0%) | ||
| HP:0005419 | Decreased T cell activation | |
Annotation source: 10905663[PMID]_26522830[PMID]_11293748[PMID]_21910238[PMID]_10189087[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/353298
- This record as JSON: /data/d/353298.json