ORPHA:2250
Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Synonyms: Bosma arhinia-microphthalmia syndrome · Bosma-Henkin-Christiansen syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome | Bosma arhinia-microphthalmia syndrome · Bosma-Henkin-Christiansen syndrome |
| fr | Syndrome d'hypoplasie nasale et oculaire-hypogonadisme hypogonadotrope | Syndrome de Bosma-Henkin-Christiansen |
| de | Hyposmie-nasale und okuläre Hypoplasie-hypogonadotroper Hypogonadismus-Syndrom | Arhinie-Mikrophthalmie-Syndrom Bosma · Bosma-Henkin-Christiansen-Syndrom |
| es | Síndrome de hiposmia-hipoplasia nasal y ocular-hipogonadismo hipogonadotrópico | Síndrome de Bosma-Henkin-Christiansen · Síndrome de arrinia-microftalmia de Bosma |
| it | Iposmia - ipoplasia oculare e nasale - ipogonadismo ipogonadotropo | Sindrome di Bosma-Henkin-Christiansen |
| nl | Hyposmie - nasale en oculaire hypoplasie - hypogonadotroop hypogonadisme-syndroom | Arrhinie - microftalmie-syndroom van Bosma · Syndroom van Bosma-Henkin-Christiansen |
| pt | Síndrome de hiposmia-hipoplasia nasal e ocular-hipogonadismo hipogonadotrópico | Síndrome Bosma-Henkin-Christiansen · Síndrome de arrinia-microftalmia Bosma |
| pl | Hiposmia - hipoplazja nosa i oczu - hipogonadyzm hipogonadotropowy | Zespół Bosma, Henkina i Christiansena |
| cs | Syndrom zahrnující hyposmii, nazální a okulární hypoplázii a hypogonadotropní hypogonadismus | Bosmaův-Henkinův-Christiansenův syndrom · Bosma-Henkin-Christiansenův syndrom |
| uk | Синдром гіпосмії - назальної та очної гіпоплазії - гіпогонадотропного гіпогонадизму | Синдром аринії-мікрофтальмії Босма · Синдром Босма-Хенкіна-Крістіансена |
| zh | 嗅觉减退-鼻和眼发育不全-低促性腺激素性性腺功能减退综合征 | Bosma无鼻畸形-小眼畸形综合征 |
| tr | Hipozmi-nazal ve oküler hipoplazi-hipogonadotropik hipogonadizm sendromu | Bosma-Henkin-Christiansen sendromu · Bosma arhinia-mikroftalmi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 603457 | NTBT | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0016393 | E | validated | |
| MONDO | 11323 | E | validated | |
| MONDO | 16393 | E | validated | |
| UMLS | C4510568 | 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 (7):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:435606Genetic nose and cavum anomaly
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:156246Nose and cavum anomaly
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases - ORPHA:181387Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1135Arrhinia-choanal atresia-microphthalmia syndrome moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SMCHD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:29090 | ENSG00000101596 | 614982 | 18p11.32 | structural maintenance of chromosomes flexible hinge domain containing 1 | 28067911[PMID]_28067909[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 | 6802865[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6802865[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
32 annotations · validated 2024-10-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000309 | Abnormal midface morphology | |
| HP:0100596 | Absent nares | |
| HP:0000458 | Anosmia | |
| HP:0009927 | Aplasia of the nose | |
| HP:0000518 | Cataract | |
| HP:0003241 | External genital hypoplasia | |
| HP:0006352 | Failure of eruption of permanent teeth | |
| HP:0000135 | Hypogonadism | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0040326 | Hypoplasia of the olfactory bulb | |
| HP:0004409 | Hyposmia | |
| HP:0000023 | Inguinal hernia | |
| HP:0009932 | Single naris | |
| HP:0000692 | Tooth malposition | |
| Frequent (79-30%) | ||
| HP:0009023 | Abdominal wall muscle weakness | |
| HP:0000646 | Amblyopia | |
| HP:0000528 | Anophthalmia | |
| HP:0009924 | Aplasia/Hypoplasia involving the nose | |
| HP:0000618 | Blindness | |
| HP:0000453 | Choanal atresia | |
| HP:0000028 | Cryptorchidism | |
| HP:0000771 | Gynecomastia | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0000612 | Iris coloboma | |
| HP:0000568 | Microphthalmia | |
| HP:0000572 | Visual loss | |
| Occasional (29-5%) | ||
| HP:0000193 | Bifid uvula | |
| HP:0000175 | Cleft palate | |
| HP:0030752 | Dacryocystocele | |
| HP:0000648 | Optic atrophy | |
| HP:0000176 | Submucous cleft hard palate | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 38555111[PMID]_26842768[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2250
- This record as JSON: /data/d/2250.json