Trichodermodysplasia-dental alterations syndrome
historical
Synonyms: Pinheiro-Freire Maia-Miranda syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
Trichodermodysplasia-dental alterations syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse, thin, brittle scalp hair, as well as sparse eyebrows, eyelashes, axillary and pubic hair, delayed eruption of deciduous teeth and hypodontia of both dentitions. Mild palmoplantar keratosis, café-au-lait spots on back, mild dystrophy of nails, and tibial deflection of toes are also associated. There have been no further descriptions in the literature since 1986.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Trichodermodysplasia-dental alterations syndrome | Pinheiro-Freire Maia-Miranda syndrome |
| fr | Syndrome tricho-dermo-dentaire | Syndrome de Pinheiro-Freire-Maia-Miranda |
| de | Trichodermodysplasie mit Zahnveränderungen | Pinheiro-Freire-Maia-Miranda-Syndrom |
| es | Síndrome de tricodermodisplasia-alteraciones dentales | Síndrome de Pinheiro-Freire-Maia-Miranda |
| it | Sindrome trico-dermo-dentale | Sindrome di Pinheiro-Freire-Maia-Miranda |
| nl | Trichodermodysplasie - dentale veranderingen-syndroom | Syndroom van Pinheiro-Freire Maia-Miranda |
| pt | Síndrome de trico-dermodisplasia-alterações dentárias | Síndrome Pinheiro-Freire Maia-Miranda |
| pl | Dysplazja włosów i skóry - zaburzenia uzębienia | Zespół Pinheiro, Freire Maia i Miranda |
| cs | Syndrom zahrnující trichodermodysplázii a dentální alteraci | Pinheirové-Freire Maiaův-Mirandaův syndrom · Pinheiro-Freire Maia-Mirandaův syndrom |
| uk | Синдром триходермодисплазії-зубних аномалій | Синдром Пінейро-Фрейре-Майя-Міранда |
| zh | 毛皮肤发育不良-牙齿蚀变综合征 | Pinheiro-Freire Maia-Miranda综合征 |
| tr | Trikodermodisplazi-dental değişiklik sendromu | Pinheiro-Freire Maia-Miranda sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0018061 | E | validated | |
| MeSH | C537402 | E | validated | |
| UMLS | C2931485 | E | validated | |
| GARD | 4369 | 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:183580Genetic malformation syndrome with odontal and/or periodontal component
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological 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 | 3 cases | Worldwide | Case(s) | Validated | 3720011[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3720011[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
19 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006482 | Abnormal dental morphology | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0002299 | Brittle hair | |
| HP:0002213 | Fine hair | |
| HP:0008069 | Neoplasm of the skin | |
| HP:0200102 | Sparse or absent eyelashes | |
| HP:0002209 | Sparse scalp hair | |
| HP:0009804 | Tooth agenesis | |
| Frequent (79-30%) | ||
| HP:0000684 | Delayed eruption of teeth | |
| HP:0003307 | Hyperlordosis | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0002650 | Scoliosis | |
| HP:0005338 | Sparse lateral eyebrow | |
| HP:0011069 | Supernumerary tooth | |
| Occasional (29-5%) | ||
| HP:0000008 | Abnormal morphology of female internal genitalia | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0009720 | Adenoma sebaceum | |
| HP:0008499 | High hypermetropia | |
| HP:0007565 | Multiple cafe-au-lait spots | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3353
- This record as JSON: /data/d/3353.json