ORPHA:3412
VACTERL with hydrocephalus
Synonyms: Sujansky-Leonard syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies characterized by the association of Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects (acronym VACTERL) with hydrocephalus. Association with hydrocephalus is relatively rare, may be distinct from VACTERL association in general, and may follow an autosomal recessive pattern of inheritance in some individuals.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | VACTERL with hydrocephalus | Sujansky-Leonard syndrome |
| fr | Syndrome de VACTERL-hydrocéphalie | Syndrome de Sujansky-Leonard |
| de | VACTERL-Assoziation mit Hydrozephalus | Sujansky-Leonard-Syndrom |
| es | VACTERL con hidrocefalia | Síndrome de Sujansky-Leonard |
| it | VACTERL con idrocefalo | Sindrome di Sujansky-Leonard |
| nl | VACTERL met hydrocefalie | Syndroom van Sujansky-Leonard |
| pt | VACTERL com hidrocefalia | Síndrome Sujansky-Leonard |
| pl | Asocjacja VACTERL z wodogłowiem | Zespół Sujansky'ego i Leonarda |
| cs | VACTERL s hydrocefalem | Sujanskeho-Leonardův syndrom · Sujansky-Leonardův syndrom |
| uk | VACTERL з гідроцефалією | Синдром Суджанського-Леонарда |
| zh | VACTERL 伴脑积水 | Sujansky-Leonard综合征 |
| tr | Hidrosefalili VACTERL | Sujansky-Leonard sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 276950 | E | validated | |
| OMIM | 314390 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0010172 | E | validated | |
| UMLS | C4305002 | E | validated | |
| GARD | 272 | 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 (5):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:730699Genetic syndromic rhombencephalosynapsis
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:729538Syndromic rhombencephalosynapsis
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FANCB | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3583 | ENSG00000181544 | 300515 | Xp22.2 | FA complementation group B | 21910217[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 families | Worldwide | Family(ies) | Validated | ORPHANET | |
| 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
33 annotations · validated 2017-09-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000587 | Abnormal optic nerve morphology | |
| HP:0002023 | Anal atresia | |
| HP:0002410 | Aqueductal stenosis | |
| HP:0002032 | Esophageal atresia | |
| HP:0000238 | Hydrocephalus | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000482 | Microcornea | |
| HP:0001561 | Polyhydramnios | |
| HP:0000104 | Renal agenesis | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0002575 | Tracheoesophageal fistula | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0002937 | Hemivertebrae | |
| HP:0002984 | Hypoplasia of the radius | |
| Occasional (29-5%) | ||
| HP:0011027 | Abnormality of the fallopian tube | |
| HP:0000356 | Abnormality of the outer ear | |
| HP:0010305 | Absence of the sacrum | |
| HP:0000528 | Anophthalmia | |
| HP:0009892 | Anotia | |
| HP:0002139 | Arrhinencephaly | |
| HP:0000028 | Cryptorchidism | |
| HP:0100541 | Femoral hernia | |
| HP:0002827 | Hip dislocation | |
| HP:0000023 | Inguinal hernia | |
| HP:0000347 | Micrognathia | |
| HP:0000568 | Microphthalmia | |
| HP:0011267 | Microtia, third degree | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0000278 | Retrognathia | |
| HP:0001195 | Single umbilical artery | |
| HP:0002414 | Spina bifida | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3412
- This record as JSON: /data/d/3412.json