Piebald trait-neurologic defects syndrome
historical
Synonyms: Telfer-Sugar-Jaeger syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- No data available
- Status
- historical
Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Piebald trait-neurologic defects syndrome | Telfer-Sugar-Jaeger syndrome |
| fr | Syndrome de piébaldisme-anomalies neurologiques | Syndrome de Telfer-Sugar-Jaeger |
| de | Piebaldismus - neurologische Anomalien | Telfer-Sugar-Jaeger-Syndrom |
| es | Síndrome de piebaldismo-neuropatías | Síndrome de Telfer-Sugar-Jaeger |
| it | Piebaldismo - anomalie neurologiche | Sindrome di Telfer-Sugar-Jaeger |
| nl | Piebaldisme - neurologische defecten-syndroom | Syndroom van Telfer-Sugar-Jaeger |
| pt | Síndrome de piebaldismo-anomalias neurológicas | Síndrome Telfer-Sugar-Jaeger |
| pl | Piebaldyzm - defekty neurologiczne | Zespół Telfera, Sugar i Jaegera |
| cs | Syndrom zahrnující piebaldismus a neurologické poruchy | Telferův-Sugarův-Jaegerův syndrom · Telfer-Sugar-Jaegerův syndrom |
| uk | Синдром пєбальдизму-неврологічних дефектів | Синдром Тельфера - Шуга - Ягера |
| zh | 花斑秃-神经缺陷综合征 | Telfer-Sugar-Jaeger综合征 |
| tr | Piebald trait-nörolojik defektler sendromu | Telfer-Sugar-Jaeger sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 172850 | E | validated | |
| ICD-10 | E70.3 | NTBT | attributed | validated |
| ICD-11 | EM0Y | NTBT | attributed | validated |
| MONDO | 0008245 | E | validated | |
| MeSH | C536955 | E | validated | |
| UMLS | C1868311 | E | validated | |
| GARD | 5133 | 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:183469Genetic hypopigmentation of the skin
rare genetic diseases - ORPHA:79376Hypopigmentation of the skin
rare skin diseases - 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 | 8 cases | Worldwide | Case(s) | Validated | 5097904[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5097904[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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0001029 | Poikiloderma | |
| Frequent (79-30%) | ||
| HP:0000534 | Abnormal eyebrow morphology | |
| HP:0001251 | Ataxia | |
| HP:0001249 | Intellectual disability | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0012733 | Macule | |
| HP:0000407 | Sensorineural hearing impairment | |
| Occasional (29-5%) | ||
| HP:0000499 | Abnormal eyelash morphology | |
| HP:0002251 | Aganglionic megacolon | |
| HP:0001100 | Heterochromia iridis | |
| HP:0008069 | Neoplasm of the skin | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2885
- This record as JSON: /data/d/2885.json