ORPHA:140952
Syndactyly-telecanthus-anogenital and renal malformations syndrome
Synonyms: STAR syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare malformation syndrome characterized by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndactyly-telecanthus-anogenital and renal malformations syndrome | STAR syndrome |
| fr | Syndrome de syndactylie-télécanthus-malformations rénale et anogénitale | Syndrome STAR |
| de | Syndaktylie-Telekanthus-anogenitale und renale Fehlbildungen-Syndrom | STAR-Syndrom |
| es | Síndrome de sindactilia-telecanto-malformaciones renales y anogenitales | Síndrome STAR |
| it | Sindattilia - telecanto - malformazioni anogenitali e renali | |
| nl | Syndactylie - telecanthus - anogenitale en renale malformaties-syndroom | STAR-syndroom |
| pt | Síndrome de sindactilia-telecanto-malformações anogenitais e renais | Síndrome STAR |
| pl | Syndaktylia - telekantus - malformacje odbytowo-genitalne i nerek | Zespół STAR |
| cs | Syndrom zahrnující syndaktylii, telekantus a anogenitální a renální malformace | = en |
| uk | Синдром синдактилії-телекантуса-аногенітальних та ниркових вад розвитку | Синдром STAR |
| zh | 并趾畸形、内眦距过宽和肛门生殖器及肾畸形 | STAR综合征 |
| tr | Sindaktili-telekantus-anogenital ve renal malformasyon sendromu | STAR sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300707 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0010408 | E | validated | |
| MeSH | C567475 | E | validated | |
| UMLS | C2678045 | E | validated | |
| GARD | 10295 | 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:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CCNQ | Disease-causing germline mutation(s) in | Assessed | HGNC:28434 | ENSG00000262919 | 300708 | Xq28 | cyclin Q | 18297069[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 18297069[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18297069[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
28 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002023 | Anal atresia | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000394 | Lop ear | |
| HP:0004322 | Short stature | |
| HP:0001770 | Toe syndactyly | |
| Frequent (79-30%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0000813 | Bicornuate uterus | |
| HP:0000414 | Bulbous nose | |
| HP:0008665 | Clitoral hypertrophy | |
| HP:0000086 | Ectopic kidney | |
| HP:0000085 | Horseshoe kidney | |
| HP:0000066 | Labial hypoplasia | |
| HP:0000104 | Renal agenesis | |
| HP:0000083 | Renal insufficiency | |
| HP:0000506 | Telecanthus | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000076 | Vesicoureteral reflux | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0001659 | Aortic regurgitation | |
| HP:0000625 | Eyelid coloboma | |
| HP:0002984 | Hypoplasia of the radius | |
| HP:0007754 | Macular dystrophy | |
| HP:0011560 | Mitral atresia | |
| HP:0000545 | Myopia | |
| HP:0004415 | Pulmonary artery stenosis | |
| HP:0000556 | Retinal dystrophy | |
| HP:0001250 | Seizure | |
| HP:0003396 | Syringomyelia | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 18297069[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/140952
- This record as JSON: /data/d/140952.json