Thumb deformity-alopecia-pigmentation anomaly syndrome
historical
Synonyms: Sparse hair-short stature-skin anomalies syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- historical
Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thumb deformity-alopecia-pigmentation anomaly syndrome | Sparse hair-short stature-skin anomalies syndrome |
| fr | Syndrome d'hypoplasie du pouce-alopécie-anomalie de la pigmentation | Syndrome de cheveux épars-petite taille-anomalies cutanées |
| de | Daumenfehlbildung-Alopezie-Pigmentanomalie-Syndrom | Spärliches Haar-Kleinwuchs-Hautanomalien-Syndrom |
| es | Síndrome de malformación del pulgar-alopecia-anomalías pigmentarias | Síndrome de cabello escaso-talla baja-anomalías de la piel |
| it | Sindrome da deformità del pollice, alopecia ed anomalie della pigmentazione | |
| nl | Duimmisvorming - alopecie - pigmentanomalie-syndroom | Schaars haar - kleinde gestalte - huidanomalieën-syndroom |
| pt | Síndrome de malformação do polegar-alopecia-anomalia da pigmentação | |
| pl | Deformacja kciuka - łysienie - zaburzenia pigmentacji | = en |
| cs | Syndrom zahrnující deformity palce, alopecii a anomálii pigmentace | = en |
| uk | Синдром деформації великого пальця-алопеції- аномалії пігментації | Синдром рідкого волосся - низького зросту - аномалій шкіри |
| zh | 拇指畸形-脱发-色素沉着异常综合征 | 稀毛症-身材矮小-皮肤畸形综合征 |
| tr | Başparmak deformitesi-alopesi-pigmentasyon anomalisi sendromu | Seyrek saç-kısa boy-cilt anomalileri sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 188150 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0008562 | E | validated | |
| MeSH | C536904 | E | validated | |
| UMLS | C1861168 | E | validated | |
| GARD | 5199 | 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:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:404577Genetic syndrome with limb malformations as a major feature
rare genetic diseases - ORPHA:109009Syndrome with limb malformations as a major feature
rare developmental anomalies during embryogenesis
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:79132OBSOLETE: Sparse hair-short stature-skin anomalies syndrome referred to · inactive
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 families | Worldwide | Family(ies) | Validated | 3344769[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3344769[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
24 annotations · validated 2017-07-31| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001596 | Alopecia | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0003510 | Severe short stature | |
| HP:0009778 | Short thumb | |
| HP:0008070 | Sparse hair | |
| Frequent (79-30%) | ||
| HP:0006482 | Abnormal dental morphology | |
| HP:0002381 | Aphasia | |
| HP:0002381 | Aphasia | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0010529 | Echolalia | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0100798 | Fingernail dysplasia | |
| HP:0001263 | Global developmental delay | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0001249 | Intellectual disability | |
| HP:0002300 | Mutism | |
| HP:0040036 | Onychogryposis of fingernail | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0000411 | Protruding ear | |
| HP:0008402 | Ridged fingernail | |
| HP:0001328 | Specific learning disability | |
| HP:0001199 | Triphalangeal thumb | |
| HP:0001025 | Urticaria | |
| Occasional (29-5%) | ||
| HP:0006101 | Finger syndactyly | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2251
- This record as JSON: /data/d/2251.json