Otopalatodigital syndrome (Q51199): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed an Item |
||||||||||||||
| (6 intermediate revisions by the same user not shown) | |||||||||||||||
| description / pt-br | description / pt-br | ||||||||||||||
A síndrome otopalatodigital (OPD) é um transtorno genético raro marcado pela associação de displasia esquelética, perda auditiva, fenda palatina e uma face característica (com hipertelorismo, base nasal larga, cristas supraorbitais proeminentes, pequeno nariz achatado e fissuras palpebrais inclinadas para baixo). Mais de 30 casos foram relatados. Dois tipos de OPD foram descritos (OPD 1 e OPD2); o tipo 2 é mais grave. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Otopalatodigital (OPD) syndrome is a rare genetic disorder marked by the association of skeletal dysplasia, hearing loss, cleft palate, and a characteristic face (with hypertelorism, broad nasal root, prominent supraorbital ridges, small flat nose and downslanted palpebral fissures). More than 30 cases have been reported. Two types of OPD have been described (OPD 1 and OPD2); type 2 is more severe. | |||||||||||||||
| Property / Canonical URI | |||||||||||||||
| Property / Canonical URI: https://id.who.int/icd/entity/1506946342 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / CURIE | |||||||||||||||
CID11:ID_1506946342 | |||||||||||||||
| Property / CURIE: CID11:ID_1506946342 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Canary Token | |||||||||||||||
dki-india-ID_1506946342 | |||||||||||||||
| Property / Canary Token: dki-india-ID_1506946342 / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Verification Status | |||||||||||||||
Concluído | |||||||||||||||
| Property / Verification Status: Concluído / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Knowledge Architect | |||||||||||||||
| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
Normal rank | |||||||||||||||
| Property / Collection date | |||||||||||||||
13 August 2026
| |||||||||||||||
| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
Normal rank | |||||||||||||||
Latest revision as of 22:21, 13 August 2026
Otopalatodigital (OPD) syndrome is a rare genetic disorder marked by the association of skeletal dysplasia, hearing loss, cleft palate, and a characteristic face (with hypertelorism, broad nasal root, prominent supraorbital ridges, small flat nose and downslanted palpebral fissures). More than 30 cases have been reported. Two types of OPD have been described (OPD 1 and OPD2); type 2 is more severe.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1506946342 |
||
| English | Otopalatodigital syndrome |
Otopalatodigital (OPD) syndrome is a rare genetic disorder marked by the association of skeletal dysplasia, hearing loss, cleft palate, and a characteristic face (with hypertelorism, broad nasal root, prominent supraorbital ridges, small flat nose and downslanted palpebral fissures). More than 30 cases have been reported. Two types of OPD have been described (OPD 1 and OPD2); type 2 is more severe. |
Statements
CID11:ID_1506946342
0 references
dki-india-ID_1506946342
0 references
Concluído
0 references
13 August 2026
0 references
