Flynn-Aird syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
A rare genetic disease characterized by childhood onset of bilateral progressive sensorineural hearing loss, ocular anomalies (myopia, cataract, retinitis pigmentosa), central and peripheral nervous system features (dementia, epilepsy, ataxia, peripheral neuropathy), ectodermal features (skin atrophy, alopecia, dental caries), and skeletal anomalies (bone cysts, joint stiffness, scoliosis, kyphosis). Laboratory examination may reveal elevated cerebrospinal fluid protein.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Flynn-Aird syndrome | |
| fr | Syndrome de Flynn-Aird | |
| de | Flynn-Aird-Syndrom | |
| es | Síndrome de Flynn-Aird | |
| it | Sindrome di Flynn-Aird | |
| nl | Syndroom van Flynn-Aird | |
| pt | Síndrome Flynn-Aird | |
| pl | Zespół Flynna i Airda | |
| cs | Flynnův-Airdův syndrom | Flynn-Airdův syndrom |
| uk | Синдром Флінна-Ейрда | |
| zh | Flynn-aird综合征 | |
| tr | Flynn-Aird sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 136300 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0007624 | E | validated | |
| MeSH | C537066 | E | validated | |
| UMLS | C0343108 | E | validated | |
| GARD | 2347 | 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:79389Premature aging
rare genetic diseases; rare skin diseases - ORPHA:71859Rare genetic neurological disorder
rare genetic diseases - ORPHA:98006Rare neurologic disease
rare neurological diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic 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 | 10 cases | Worldwide | Case(s) | Validated | 5878601[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5878601[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
30 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004334 | Dermal atrophy | |
| HP:0000545 | Myopia | |
| HP:0000408 | Progressive sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0001596 | Alopecia | |
| HP:0002381 | Aphasia | |
| HP:0001251 | Ataxia | |
| HP:0002621 | Atherosclerosis | |
| HP:0012062 | Bone cyst | |
| HP:0004326 | Cachexia | |
| HP:0000518 | Cataract | |
| HP:0000726 | Dementia | |
| HP:0002376 | Developmental regression | |
| HP:0002353 | EEG abnormality | |
| HP:0007328 | Impaired pain sensation | |
| HP:0001387 | Joint stiffness | |
| HP:0002808 | Kyphosis | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0000510 | Rod-cone dystrophy | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0200042 | Skin ulcer | |
| Occasional (29-5%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0000820 | Abnormality of the thyroid gland | |
| HP:0000670 | Carious teeth | |
| HP:0002514 | Cerebral calcification | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0008207 | Primary adrenal insufficiency | |
| HP:0005978 | Type II diabetes mellitus | |
| HP:0000505 | Visual impairment | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2047
- This record as JSON: /data/d/2047.json