Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
Synonyms: Dentinogenesis imperfecta-short stature-deafness-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare malformative syndrome with dentinogenesis imperfecta, characterized by dentin dysplasia with opalescent discoloration and severe attrition of primary and permanent teeth, and delayed eruption, bulbous crowns, long and tapered roots, and progressive root canal obliteration of the permanent dentition, associated with proportionate short stature, sensorineural hearing loss, mild intellectual disability, and dysmorphic facial features. The latter include a prominent nose with high nasal bridge and short philtrum. Osteoporosis, mild platyspondyly, and cone-shaped epiphyses have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome | Dentinogenesis imperfecta-short stature-deafness-intellectual disability syndrome |
| fr | Syndrome de dentinogenèse imparfaite-petite taille-surdité-déficience intellectuelle | |
| de | Dentinogenesis imperfecta-Kleinwuchs-Hörverlust-Intelligenzminderung-Syndrom | |
| es | Síndrome de dentinogénesis imperfecta-talla baja-hipoacusia-discapacidad intelectual | Síndrome de dentinogénesis imperfecta-talla baja-sordera-discapacidad intelectual |
| it | Sindrome dentinogenesi imperfetta-bassa statura-sordità-disabilità intellettiva | Sindrome dentinogenesi imperfetta-bassa statura-sordità-disabilità intellettiva |
| nl | Dentinogenesis imperfecta - kleine gestalte - gehoorverlies - intellectuele achterstand-syndroom | Dentinogenesis imperfecta - kleine gestalte - doofheid - intellectuele achterstand-syndroom |
| pt | Síndrome de dentinogénse imperfeita-baixa estatura-perda de audição-perturbação do desenvolvimento intelectual | Síndrome de dentinogénse imperfeita-baixa estatura-surdez-perturbação do desenvolvimento intelectual |
| pl | Dentinogenesis imperfecta - niski wzrost - utrata słuchu- upośledzenie umysłowe | = en |
| cs | Syndrom zahrnující dentinogenesis imperfecta, malý vzrůst, ztrátu sluchu a mentální postižení | = en |
| uk | Синдром недосконалого дентиногенезу-низькорослості-втрати слуху-інтелектуальної недостатності | Синдром недосконалого дентиногенезу - низький зріст - глухота - розумова відсталість |
| zh | 牙本质发育不全-身材矮小-听力丧失-智力障碍综合征 | 牙本质发育不全-身材矮小-耳聋-智力障碍综合征 |
| tr | Dentinogenesis imperfecta-kısa boy-işitme kaybı-zihinsel yetersizlik sendromu | Dentinogenezis imperfecta-kısa boy-sağırlık-zihinsel yetersizlik sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0019102 | E | validated | |
| UMLS | C4303592 | 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 (5):
- ORPHA:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:180766Malformative syndrome with dentinogenesis imperfecta
rare developmental anomalies during embryogenesis; rare genetic diseases; rare odontological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - 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 | 16011615[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_16011615[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
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0010579 | Cone-shaped epiphysis | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000703 | Dentinogenesis imperfecta | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000939 | Osteoporosis | |
| HP:0000926 | Platyspondyly | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000322 | Short philtrum | |
| HP:0004322 | Short stature | |
Run the differential on the 11 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/71267
- This record as JSON: /data/d/71267.json