M.先天畸形/症候群 Congenital malformations/syndromes
【罕病分類】│【回目錄】
| •Aarskog-Scott氏症候群 Aarskog-Scott syndrome |
| •瓦登伯格氏症候群 Waardenburg syndrome |
| •愛伯特氏症 Apert syndrome |
| •Smith-Lemli-Opitz氏症候群 Smith-Lemli-Opitz syndrome |
| •Larsen氏症候群(顎裂-先天性脫位症候群) Larsen syndrome |
| •Beckwith Wiedemann氏症候群 Beckwith Wiedemann syndrome |
| •Fraser氏症候群 Fraser syndrome |
| •多發性翼狀膜症候群 Multiple pterygium syndrome |
| •Cornelia de Lange氏症候群 Cornelia de Lange syndrome |
| •海勒曼-史德萊夫氏症候群 Hallerman-Streiff syndrome |
| •Kabuki症候群 Kabuki syndrome |
| •耳-齶-指（趾）症候群 Oto-Palato-Digital syndrome |
| •Conradi-Hunermann氏症候群 Conradi-Hunermann syndrome |
| •Treacher Collins氏症候群 Treacher Collins syndrome |
| •Robinow氏症候群 Robinow syndrome |
| •指（趾）甲髕骨症候群 Nail-Patella syndrome |
| •CFC症候群 Cardiofaciocutaneous syndrome |
| •Peters-Plus症候群 Peters-Plus syndrome |
| •Nager症候群 Nager syndrome |
| •CHARGE症候群 CHARGE syndrome |
| •懷特-薩頓症候群 White-Sutton syndrome |
| •克斯提洛氏彈性蛋白缺陷症 Costello syndrome |
| •Ayme-Gripp症候群 Ayme-Gripp syndrome |
| •Coffin-Lowry症候群 Coffin-Lowry syndrome |
| •Myhre症候群 Myhre syndrome |
| •森森布倫納症候群 Sensenbrenner syndrome |
| •克片-魯賓斯基症候群 Keppen-Lubinsky syndrome |
| •Angelman氏症候群 Angelman syndrome |
| •DiGeorge症候群 DiGeorge syndrome |
| •Prader-Willi氏症候群 Prader-Willi syndrome |
| •威爾姆氏腫瘤、無虹膜、性器異常、智能障礙症候群(WAGR症候群) WAGR syndrome (Wilms’ tumor-aniridia-genitourinary anomalies-mental retardation) |
| •Miller Dieker症候群 Miller Dieker syndrome |
| •Rubinstein-Taybi氏症候群 Rubinstein-Taybi syndrome |
| •威廉斯氏症候群 Williams syndrome |
| •Branchio-Oto-Renal症候群 (BOR症候群) Branchio-Oto-Renal syndrome (BOR syndrome) |
| •普洛提斯症候群 Proteus syndrome |
| •Cockayne氏症候群(柯凱因氏症候群) Cockayne syndrome |
| •早老症 Hutchinson Gilford progeria syndrome |
| •Schaaf-Yang 症候群 Schaaf-Yang syndrome |
| •Galloway-Mowat症候群 Galloway-Mowat syndrome |