Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
Synonyms: Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome | Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome |
| fr | Syndrome d'insuffisance hypophysaire multiple non acquise-surdité neurosensorielle-anomalies de la colonne vertébrale | Syndrome d'insuffisance hypophysaire multiple non acquise-surdité de perception-anomalie de rotation du cou |
| de | Nicht erworbener kombinierter Hypophysenhormon-Mangel-sensorineuraler Hörverlust-spinale Fehlbildungen-Syndrom | Nicht erworbener kombinierter Hypophysenhormon-Mangel-Taubheit-steife Halswirbelsäule-Syndrom |
| es | Síndrome de deficiencia de hormonas hipofisarias combinada no adquirida-hipoacusia neurosensorial-anomalías de la columna vertebral | Síndrome de deficiencia de hormonas hipofisarias combinada no adquirida-sordera-columna vertebral rígida |
| it | Sindrome da deficit combinato non acquisito dell'ormone ipofisario, sordità neurosensoriale e anomalie della colonna vertebrale | |
| nl | Niet-verworven gecombineerde deficiëntie van hypofysehormonen - sensorineuraal gehoorverlies - afwijkingen van wervelkolom-syndroom | Niet-verworven gecombineerde hypofysehormoondeficiëntie - doofheid - rigide cervicale wervelkolom-syndroom |
| pt | Síndrome de deficiência de hormonas hipofisárias combinada não-adquirida-perda auditiva neurossensorial-anomalias da coluna | Síndrome de deficiência de hormonas hipofisárias combinada não-adquirida-surdez neurossensorial-anomalias da coluna |
| pl | Wrodzony złożony niedobór hormonów przysadki mózgowej z niedosłuchem czuciowo-nerwowym i nieprawidłowościami kręgosłupa | = en |
| cs | Nezískaný kombinovaný deficit hormonu hypofýzy s abnormalitami páteře | = en |
| uk | Синдром ненабутого комбінованого дефіциту гормонів гіпофіза-сенсоневральної приглухуватості-патології хребта | Ненабутий комбінований синдром дефіциту гормонів гіпофіза-глухоти-ригідності шийного відділу хребта |
| zh | 非获得性联合垂体激素缺陷-感音神经性听觉丧失-脊柱异常综合征 | 非获得性联合垂体激素缺陷-耳聋-颈椎僵硬综合征 |
| tr | Edinsel olmayan kombine hipofiz hormonu eksikliği-sensörinöral işitme kaybı-omurga anormallikleri sendromu | Edinsel olmayan kombine hipofiz hormonu eksikliği-sağırlık-rijit servikal omurga sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 221750 | E | validated | |
| ICD-10 | E23.0 | NTBT | attributed | validated |
| ICD-11 | 5A61.0 | NTBT | attributed | validated |
| UMLS | C4749825 | E | validated | |
| GARD | 10603 | 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 (2):
- ORPHA:95495Disease associated with non-acquired combined pituitary hormone deficiency
rare genetic diseases; rare endocrine diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:3228OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome referred to · inactive
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LHX3 | Disease-causing germline mutation(s) in | Assessed | HGNC:6595 | ENSG00000107187 | 600577 | 9q34.3 | LIM homeobox 3 | 10835633[PMID]_19762173[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 13 cases | Worldwide | Case(s) | Validated | ORPHANET_19762173[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.
HPO phenotypes
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010627 | Anterior pituitary hypoplasia | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0008213 | Gonadotropin deficiency | |
| HP:0012287 | Hypothalamic luteinizing hormone-releasing hormone deficiency | |
| HP:0008245 | Pituitary hypothyroidism | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0003423 | Thoracolumbar kyphoscoliosis | |
| Occasional (29-5%) | ||
| HP:0011748 | Adrenocorticotropic hormone deficiency | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 18407919[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/231720
- This record as JSON: /data/d/231720.json