| 順位 （類似度） |
PMID (PMCID) |
|
|---|---|---|
| 1 (48.8%) |
23524810 |
Thurston syndrome: an uncommon disorder presenting with common abnormalities. John JR, Kumar P, Sharma RK. J Craniofac Surg. 2013;24(2):e132-4. |
| 小頭 多指趾症 | ||
| ヒト 口顔面指症候群 幼児 男 | ||
| 2 (31.0%) |
16731396 |
Thurston syndrome: report of a new case. Valiathan A, Sivakumar A, Marianayagam D, Valiathan M, Satyamoorthy K. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006;101(6):757-60. |
| 多指趾症 | ||
| India ヒト 劣性遺伝子 口顔面指症候群 男 |
合計: 27
| HPO ID | 徴候・症状 | 頻度 |
|---|---|---|
| HP:0000161 | 正中口唇裂 | Very frequent (99-80%) |
| HP:0001162 | 軸後性多指症 | Very frequent (99-80%) |
| HP:0001830 | 事後性多趾症 | Very frequent (99-80%) |
| HP:0000191 | 副口腔小帯 | Frequent (79-30%) |
| HP:0000288 | 人中の異常 | Frequent (79-30%) |
| HP:0000316 | 両眼隔離 | Frequent (79-30%) |
| HP:0001249 | 知的障害 | Frequent (79-30%) |
| HP:0002007 | 前頭突出, 額突出 | Frequent (79-30%) |
| HP:0010297 | 二分した舌 | Frequent (79-30%) |
| HP:0000185 | 軟口蓋裂 | Occasional (29-5%) |
| HP:0000190 | 口腔小帯異常 | Occasional (29-5%) |
| HP:0000193 | 二分した口蓋垂 | Occasional (29-5%) |
| HP:0000252 | 小頭 | Occasional (29-5%) |
| HP:0000668 | 減歯症 | Occasional (29-5%) |
| HP:0001274 | 脳梁無発生 | Occasional (29-5%) |
| HP:0001636 | Fallot 四徴症 | Occasional (29-5%) |
| HP:0002251 | 無神経節性巨大結腸 | Occasional (29-5%) |
| HP:0002650 | 側弯 | Occasional (29-5%) |
| HP:0002705 | 高狭口蓋 | Occasional (29-5%) |
| HP:0004736 | 交叉癒合性異所性腎 | Occasional (29-5%) |
| HP:0005817 | 軸後性多合趾症 | Occasional (29-5%) |
| HP:0006297 | 歯エナメル質低形成 | Occasional (29-5%) |
| HP:0010441 | 異所性指様副付属物 | Occasional (29-5%) |
| HP:0010800 | キューピット弓欠損 | Occasional (29-5%) |
| HP:0011069 | 歯数増加 | Occasional (29-5%) |
| HP:0012738 | 犬歯無発生 | Occasional (29-5%) |
| HP:0100335 | 非正中口唇裂 | Occasional (29-5%) |
合計: 2
| HPO ID | 徴候・症状 | 症例報告数 |
|---|---|---|
| HP:0010442 | 多指趾症 | 1 |
| HP:0100259 | 軸後性多指趾症 | 1 |