Odontotrichomelic syndrome
historical
Synonyms: Freire-Maia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- historical
A rare genetic disease characterized by intellectual disability, growth delay, absence deformities of upper and lower limbs, hypotrichosis, hypoplastic nails, abnormal dentition, abnormal auricles, hypoplastic nipples, thyroid enlargement, and abnormalities of tyrosine and/or tryptophane metabolism. Hypogonadism and cleft lip have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Odontotrichomelic syndrome | Freire-Maia syndrome |
| fr | Syndrome odonto-trichomélique | Syndrome de Freire-Maia |
| de | Odonto-trichomelisches Syndrom | Freire-Maia-Syndrom |
| es | Síndrome odontotricomélico | Síndrome de Freire-Maia |
| it | Sindrome odonto-tricomelica | Sindrome di Freire-Maia |
| nl | Odontotrichomelisch syndroom | Syndroom van Freire-Maia |
| pt | Síndrome odonto-trico-mélico | Síndrome Freire-Maia |
| pl | Zespół zębowo-włosowo-kończynowy | Zespół Freire i Maia |
| cs | Odontotrichomelický syndrom | Freire-Maiaův syndrom |
| uk | Одонтотрихомелічний синдром | Синдром Фрейре-Майя |
| zh | 牙齿毛发四肢综合征 | Freire-Maia综合征 |
| tr | Odontotrikomelik sendromu | Freire-Maia sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 273400 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0010111 | E | validated | |
| MeSH | C535637 | E | validated | |
| UMLS | C2930960 | E | validated | |
| GARD | 2381 | 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 (4):
- 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 - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial 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 | 4 cases | Worldwide | Case(s) | Validated | 5432287[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5432287[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2723
- This record as JSON: /data/d/2723.json