Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
historical
Synonyms: Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome · Thong-Douglas-Ferrante syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- historical
A rare developmental defect during embryogenesis malformation syndrome characterized by proportionate short stature, sensorineural deafness, mutism, facial dysmorphism and recurrent infections as a result of abnormal neutrophil chemotaxis. There have been no further descriptions in the literature since 1978.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome | Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome · Thong-Douglas-Ferrante syndrome |
| fr | Syndrome de petite taille-surdité-neutrophiles anormaux | Syndrome de Thong-Douglas-Ferrante |
| de | Kleinwuchs-Schwerhörigkeit-neutrophile Funktionsstörung-Dysmorphien-Syndrom | Thong-Douglas-Ferrante-Syndrom |
| es | Síndrome de talla baja-sordera-disfunción neutrófila-dismorfia | Síndrome de talla baja-hipoacusia-disfunción neutrófila-dismorfia |
| it | Sindrome da bassa statura-sordità-disfunzione dei neutrofili-dismorfismi | Sindrome di Thong-Douglas-Ferrante |
| nl | Kleine gestalte - doofheid - neutrofieldisfunctie - dysmorfie-syndroom | Syndroom van Thong-Douglas-Ferrante |
| pt | Síndrome de baixa estatura-surdez-disfunção dos neutrófilos-dismorfia | Síndrome Thong-Douglas-Ferrante |
| pl | Niski wzrost - deafness - dysfunkcja neutrofili - dysmorfia | Zespół Thonga, Douglasa i Ferrante |
| cs | Syndrom zahrnující malý vzrůst, hluchotu, dysfunkci neutrofilů a dysmorfismus | Thongův-Douglasův-Ferranteův syndrom · Thong-Douglas-Ferranteův syndrom |
| uk | Синдром низькорослості-глухоти-нейтрофільної дисфункції-дисморфізму | Синдром низькорослості - втрати слуху - дисфункції нейтрофілів - дисморфізму · Синдром Тонга-Дугласа-Ферранте |
| zh | 身材矮小-耳聋-中性粒细胞功能障碍-畸形综合征 | = en |
| tr | Kısa boy-sağırlık-nötrofil disfonksiyonu-dismorfizm sendromu | Kısa boy-işitme kaybı-nötrofil disfonksiyonu-dismorfizm sendromu · Thong-Douglas-Ferrante sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0017316 | E | validated | |
| UMLS | C4274785 | E | validated | |
| GARD | 4841 | 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 (1):
- ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 654917[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_654917[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
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0001363 | Craniosynostosis | |
| HP:0004397 | Ectopic anus | |
| HP:0000501 | Glaucoma | |
| HP:0002300 | Mutism | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0002664 | Neoplasm | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2866
- This record as JSON: /data/d/2866.json