Biemond syndrome type 2
Synonyms: Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
Biemond syndrome type 2 (BS2) is a rare genetic neurological and developmental disorder reported in a very small number of patients with a poorly defined phenotype which includes iris coloboma, short stature, obesity, hypogonadism, postaxial polydactyly, and intellectual disability. Hydrocephalus and facial dysostosis were also reported. BS2 shares features with Bardet-Biedl syndrome. There have been no further descriptions in the literature since 1997.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Biemond syndrome type 2 | Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome |
| fr | Syndrome de Biemond type 2 | Syndrome d'hypogonadisme-petite taille-colobome-polydactylie préaxiale |
| de | Biemond-Syndrom Typ 2 | Hypogonadismus-Kleinwuchs-Kolobom-präaxiale Polydaktylie-Syndrom |
| es | Síndrome de Biemond tipo 2 | Síndrome de hipogonadismo-talla baja-coloboma-polidactilia preaxial |
| it | Sindrome di Biemond, tipo 2 | Sindrome ipogonadismo-bassa statura-coloboma-polidattilia preassiale |
| nl | Syndroom van Biemond type 2 | Hypogonadisme - kleine gestalte - coloboom - preaxiale polydactylie-syndroom |
| pt | Síndrome Biemon tipo 2 | |
| pl | Zespół Biemonda typu 2 | Zespół hipogonadyzm-niski wzrost-szczelina-polidaktylia przedosiowa |
| cs | Biemondův syndrom, typ 2 | Syndrom zahrnující hypogonadismus, malý vzrůst, kolobom a preaxiální polydaktylii |
| uk | Синдром Бімонда, тип 2 | Синдром гіпогонадизму - низького зросту - колобоми - преаксіальної полідактилії |
| zh | Biemond 综合征2型 | 性腺功能减退-矮小-眼组织缺损-轴前性多指综合征 |
| tr | Biemond sendromu tip 2 | Hipogonadizm-kısa boy-kolobom-preaksiyel polidaktili sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 210350 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0008864 | E | validated | |
| MeSH | C565902 | E | validated | |
| UMLS | C1859487 | E | validated | |
| GARD | 882 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9098485[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.
HPO phenotypes
12 annotations · validated 2019-06-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000589 | Coloboma | |
| HP:0000823 | Delayed puberty | |
| HP:0000238 | Hydrocephalus | |
| HP:0000135 | Hypogonadism | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0000047 | Hypospadias | |
| HP:0001249 | Intellectual disability | |
| HP:0005321 | Mandibulofacial dysostosis | |
| HP:0000568 | Microphthalmia | |
| HP:0001513 | Obesity | |
| HP:0100258 | Preaxial polydactyly | |
| HP:0004322 | Short stature | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 9098485[PMID]_13109178[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/141333
- This record as JSON: /data/d/141333.json