Laryngeal abductor paralysis-intellectual disability syndrome
Synonyms: Plott syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood
- Status
- active
A rare X-linked syndromic intellectual disability characterized by congenital and permanent vocal cord paralysis causing severe congenital laryngeal stridor, associated with intellectual disability in male patients. Other presenting symptoms may include weak cry, cough, cyanosis, neonatal asphyxia, feeding difficulty, aspiration, and bronchiectasis. Microcephaly, tone abnormalities, visual and hearing impairment may also be associated features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Laryngeal abductor paralysis-intellectual disability syndrome | Plott syndrome |
| fr | Syndrome de paralysie du larynx-déficience intellectuelle | Syndrome de Plott |
| de | Laryngeale Abduktorenlähmung-Intelligenzminderung-Syndrom | Plott-Syndrom |
| es | Síndrome de parálisis del abductor laríngeo-discapacidad intelectual | Síndrome de Plott |
| it | Sindrome paralisi dell'adduttore laringeo-disabilità intellettiva | Sindrome di Plott |
| nl | Paralyse van laryngeale abductor - intellectuele achterstand-syndroom | Syndroom van Plott |
| pt | Síndrome de paralisia do abdutor laríngeo-perturbação do desenvolvimento intelectual | Síndrome Plott |
| pl | Porażenie mięśnia odwodziciela krtani - niepełnosprawność intelektualna | Zespół plotta |
| cs | Paréza hlasivek spojená s mentální retardací | Plottův syndrom |
| uk | Синдром абдукторного паралічу гортані та інтелектуальної недостатності | Синдром Плотта |
| zh | 喉展肌麻痹-智力障碍综合征 | Plott综合征 |
| tr | Laringeal abdüktör paraliz-zihinsel yetersizlik sendromu | Plott sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 308850 | E | validated | |
| ICD-10 | J38.0 | NTBT | attributed | validated |
| MONDO | 0010639 | E | validated | |
| UMLS | C4319572 | 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:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; 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 | 20 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.
HPO phenotypes
7 annotations · validated 2019-04-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002110 | Bronchiectasis | |
| HP:0004886 | Congenital laryngeal stridor | |
| HP:0001605 | Vocal cord paralysis | |
| Frequent (79-30%) | ||
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000252 | Microcephaly | |
| HP:0001270 | Motor delay | |
| HP:0012768 | Neonatal asphyxia | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 2277390[PMID]_4751313[PMID]_14172969[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2375
- This record as JSON: /data/d/2375.json