Familial developmental dysphasia
Synonyms: Billard-Toutain-Maheut syndrome · FOXP2-associated dysphasia
- Type
- Clinical syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Familial developmental dysphasia is a severe form of developmental verbal apraxia characterized by a deficit in spontaneous speech, writing, grammatical judgment and repetition, defective articulation, moderate to severe degree of dyspraxia, a reduced use of consonant clusters, and comprehension delay. Hearing and intelligence are normal.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial developmental dysphasia | Billard-Toutain-Maheut syndrome · FOXP2-associated dysphasia |
| fr | Dysphasie congénitale familiale | Dysphasie associée à FOXP2 · Syndrome de Billard-Toutain-Maheut |
| de | Dysphasie, familiäre kongenitale | Billard-Toutain-Maheut-Syndrom · Sprachentwicklung, familiäre verzögerte |
| es | Disfasia congénita familiar | Síndrome de Billard-Toutain-Maheut |
| it | Disfasia congenita familiare | Disfasia associata a FOXP2 · Sindrome di Billard-Toutain-Maheut |
| nl | Familiale ontwikkelingsdysfasie | FOXP2-geassocieerde dysfasie · Syndroom van Billard-Toutain-Maheut |
| pt | Disfasia do desenvolvimento familiar | Síndrome Billard-Toutain-Maheut |
| pl | Rodzinna dysfazja rozwojowa | Dysfazja związana z FOXP2 · Zespół Billarda, Toutaina i Maheuta |
| cs | Familiární vývojová dysfázie | FOXP2 asociovaná dysfázie · Billardův-Toutainův-Maheutův syndrom · Billard-Toutain-Maheutův syndrom |
| uk | Сімейна дисфазія розвитку | Синдром Білларда-Тутена-Магеута · FOXP2-асоційована дисфазія |
| zh | 家族性发育性语言障碍 | Billard-Toutain-Maheut综合征 |
| tr | Ailesel gelişimsel disfazi | FOXP2-ilişkili disfazi · Billard-Toutain-Maheut sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600117 | E | validated | |
| ICD-10 | F80.1 | NTBT | attributed | validated |
| MONDO | 0010821 | E | validated | |
| MeSH | C563997 | E | validated | |
| UMLS | C1838630 | E | validated | |
| GARD | 1823 | 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:211053Specific language disorder
rare neurological 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 | 6 families | Worldwide | Family(ies) | Validated | 8031532[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8031532[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
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002381 | Aphasia | |
| HP:0002474 | Expressive language delay | |
| HP:0002546 | Incomprehensible speech | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1799
- This record as JSON: /data/d/1799.json