Ataxia-photosensitivity-short stature syndrome
historical
Synonyms: Fenton-Wilkinson-Toselano syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Childhood, Infancy
- Status
- historical
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by cerebellar-like ataxia, photosensitivity (mainly of the face and trunk), short stature and intellectual disability. Additonal features include clinodactyly, single palmar transverse crease, high-arched palate, pseudohypertrophy of the calves and aortic valve lesions. There have been no further descriptions in the literature since 1983.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ataxia-photosensitivity-short stature syndrome | Fenton-Wilkinson-Toselano syndrome |
| fr | Syndrome d'ataxie-photosensibilité-petite taille | Syndrome de Fenton-Wilkinson-Toselano |
| de | Ataxie-Lichtempfindlichkeit-Kleinwuchs-Syndrom | Fenton-Wilkinson-Toselano-Syndrom |
| es | Síndrome de ataxia-fotosensibilidad-talla baja | Síndrome de Fenton-Wilkinson-Toselano |
| it | Sindrome atassia, fotosensibilità e bassa statura | Sindrome di Fenton-Wilkinson-Toselano |
| nl | Ataxie - fotosensitiviteit - kleine gestalte-syndroom | Syndroom van Fenton-Wilkinson-Toselano |
| pt | Síndrome de ataxia-fotossensibilidade-baixa estatura | Síndrome Fenton-Wilkinson-Toselano |
| pl | Ataksja - wrażliwość na światło - niski wzrost | Zespół Fentona, Wilkinsona i Toselano |
| cs | Syndrom zahrnující ataxii, fotosenzitivitu a malý vzrůst | Fentonův-Wilkinsonův-Toselandův syndrom · Fenton-Wilkinson-Toselandův syndrom |
| uk | Синдром атаксії-світлочутливості-низького зросту | Синдром Фентона-Вілкінсона-Тоселано |
| zh | 共济失调-光敏感-身材矮小综合征 | Fenton-Wilkinson-Toselano综合征 |
| tr | Ataksi-fotosensitivite-kısa boy sendromu | Fenton-Wilkinson-Toselano sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0015248 | E | validated | |
| UMLS | C4751230 | E | validated | |
| GARD | 2287 | 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 (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:183518Hereditary ataxia
rare genetic diseases; rare neurological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; 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 | 2 cases | Worldwide | Case(s) | Validated | 6620277[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6620277[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
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0001251 | Ataxia | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0100543 | Cognitive impairment | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0000958 | Dry skin | |
| HP:0000218 | High palate | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0004322 | Short stature | |
| HP:0001025 | Urticaria | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0002967 | Cubitus valgus | |
| HP:0001288 | Gait disturbance | |
| HP:0000486 | Strabismus | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1184
- This record as JSON: /data/d/1184.json