ORPHA:209908
Isolated childhood apraxia of speech
Synonyms: Isolated CAS · Isolated developmental verbal dyspraxia · Pure CAS · Pure childhood apraxia of speech · Speech and language disorder with orofacial dyspraxia · Speech-language disorder type 1
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare neurologic disease characterized by impaired ability to execute complex coordinated movements underlying the production of speech, leading to highly unintelligible speech in the absence of muscular or sensory deficits.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated childhood apraxia of speech | Isolated CAS · Isolated developmental verbal dyspraxia · Pure CAS · Pure childhood apraxia of speech · Speech and language disorder with orofacial dyspraxia · Speech-language disorder type 1 |
| fr | Dyspraxie verbale de développement isolée | Dyspraxie verbale de développement pure · Trouble de la parole et du langage avec dyspraxie orofaciale · Trouble du langage oral de type 1 |
| de | Isolierte Sprechapraxie im Kindesalter | Isolierte CAS · Isolierte verbale Entwicklungsdyspraxie · Rein kindliche Sprechapraxie · Reine CAS · Sprech- und Sprachstörungen Typ 1 · Sprech- und Sprachstörungen mit orofazialer Dyspraxie |
| es | Apraxia del habla infantil aislada | Apraxia del habla infantil pura · Dispraxia verbal del desarrollo aislada · Trastorno del habla y del lenguaje con dispraxia orofacial · Trastorno del habla y del lenguaje tipo 1 |
| it | Aprassia verbale infantile | Aprassia verbale infantile pura · CAS isolata · CAS pura · Disprassia verbale isolata dello sviluppo · Disturbo del linguaggio con disprassia orofacciale · Disturbo del linguaggio tipo 1 |
| nl | Geïsoleerde spraakapraxie op kinderleeftijd | Geïsoleerde CAS · Geïsoleerde ontwikkelingsgerelateerde verbale dyspraxie · Spraak- en taalstoornis met orofaciale dyspraxie · Spraak-taalstoornis type 1 · Zuivere CAS · Zuivere spraakapraxie op kinderleeftijd |
| pt | Apraxia do discurso isolada na adolescência | CAS isolada · CAS pura · Dispraxia do desenvolvimento verbal isolada |
| pl | Izolowana dziecięca apraksja mowy | CAS · Rozwojowa dyspraksja werbalna · Zaburzenie mowy i języka z dyspraksją ustno-twarzową · Zaburzenie mowy-języka typu 1 |
| cs | Izolovaná dětská řečová apraxie | CAS · Vývojová verbální dyspraxie · Poruchy řeči a jazyka s orofaciální dyspraxií · Poruchy řeči a jazyka, typ 1 |
| uk | Ізольована дитяча апраксія мовлення | Ізольований CAS · Ізольована мовленнєва диспраксія у звязку з розвитком · Чистий CAS · Чиста дитяча апраксія мовлення · Розлади мови та мовлення з орофаціальною дипраксією · Розлад мовлення 1 типу |
| zh | 儿童言语失用症 | 言语语言障碍伴口面部运动障碍 |
| tr | Çocukluk çağı konuşma apraksisi | CAS · Gelişimsel sözel dispraksi · Konuşma-dil bozukluğu tip 1 · Orofasiyal dispraksi ile seyreden konuşma ve dil bozukluğu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602081 | E | validated | |
| ICD-10 | F80.0 | NTBT | attributed | validated |
| MONDO | 0011184 | E | validated | |
| UMLS | C0750927 | E | validated | |
| GARD | 12889 | 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 (2):
- ORPHA:71859Rare genetic neurological disorder
rare genetic diseases - ORPHA:211053Specific language disorder
rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FOXP2 | Disease-causing germline mutation(s) in | Assessed | HGNC:13875 | ENSG00000128573 | 605317 | 7q31.1 | forkhead box P2 | 11586359[PMID]_15877281[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 22 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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.
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HPO phenotypes
23 annotations · validated 2019-07-30| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000750 | Delayed speech and language development | |
| Frequent (79-30%) | ||
| HP:0031434 | Abnormal speech prosody | |
| HP:0001260 | Dysarthria | |
| HP:0002474 | Expressive language delay | |
| HP:0006977 | Grammar-specific speech disorder | |
| HP:0002546 | Incomprehensible speech | |
| HP:0007010 | Poor fine motor coordination | |
| HP:0002465 | Poor speech | |
| HP:0010863 | Receptive language delay | |
| HP:0001328 | Specific learning disability | |
| HP:0011098 | Speech apraxia | |
| Occasional (29-5%) | ||
| HP:0002339 | Abnormal caudate nucleus morphology | |
| HP:0002340 | Caudate atrophy | |
| HP:0012434 | Delayed social development | |
| HP:0002307 | Drooling | |
| HP:0011968 | Feeding difficulties | |
| HP:0007015 | Poor gross motor coordination | |
| Very rare (<4-1%) | ||
| HP:0000729 | Autistic behavior | |
| HP:0002705 | High, narrow palate | |
| HP:0011228 | Horizontal eyebrow | |
| HP:0000396 | Overfolded helix | |
| HP:0000176 | Submucous cleft hard palate | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 27336128[PMID]_15877281[PMID]_9770548[PMID]_2332125[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/209908
- This record as JSON: /data/d/209908.json