罕見疾病專區
重點整理
- 公告罕病
- 250 種（國民健康署公告）；233 種有罕藥或領證人數資料、另設專頁。
- 領證人數
- 重大傷病罕見疾病類有效領證共 16,654 人（2026-09 統計，健保署公布的罕見疾病類小計；領證人數不等於患者人數）。
- 有罕藥的疾病
- 48 種：多發性硬化症/泛視神經脊髓炎、Fabry 氏症(法布瑞氏症)、結節性硬化症、威爾森氏症、肌萎縮性側索硬化症、脊髓性肌肉萎縮症等。
國民健康署公告罕見疾病（250 種，依領證人數排序）
| 病名 | 有效領證人數 | 罕藥許可證 |
|---|---|---|
| 多發性硬化症/泛視神經脊髓炎 Multiple sclerosis, MS/ Neuromyelitis optica spectrum disorders, NMOSD |
2,298 | 40 |
| 脊髓小腦退化性動作協調障礙 Spinocerebellar ataxia |
1,009 | — |
| Fabry 氏症(法布瑞氏症) Fabry disease |
744 | 5 |
| 結節性硬化症 Tuberous sclerosis |
736 | 3 |
| 威爾森氏症 Wilson’s disease |
619 | 5 |
| 夏柯-馬利-杜斯氏症 Charcot-Marie-Tooth disease |
618 | — |
| 肌萎縮性側索硬化症 Amyotrophic lateral sclerosis (ALS) |
573 | 1 |
| 脊髓性肌肉萎縮症 Spinal muscular atrophy |
451 | 4 |
| 軟骨發育不全症 Achondroplasia |
441 | 2 |
| 成骨不全症 Osteogenesis imperfecta |
361 | — |
| 特發性或遺傳性肺動脈高壓 Idiopathic or Heritable pulmonary arterial hypertension (IPAH or HPAH) |
342 | 25 |
| 重型海洋性貧血 Thalassemia major |
334 | 2 |
| Prader-Willi 氏症候群 Prader-Willi syndrome |
294 | — |
| 亨丁頓氏舞蹈症 Huntington disease (又稱Huntington's chorea) |
293 | 2 |
| 苯酮尿症 Phenylketonuria |
287 | 6 |
| 裘馨氏肌肉失養症 Duchenne muscular dystrophy |
286 | — |
| 家族性澱粉樣多發性神經病變 Familial amyloidotic polyneuropathy |
282 | 3 |
| 粒線體缺陷 Mitochondrial defect |
274 | — |
| 威廉斯氏症候群 Williams syndrome |
270 | — |
| 遺傳性痙攣性下身麻痺 Hereditary spastic paraplegia |
237 | — |
| 原發性肉鹼缺乏症 Carnitine deficiency syndrome, primary |
219 | — |
| 肝醣儲積症 Glycogen storage disease |
216 | 2 |
| 面肩胛肱肌失養症 Facioscapulohumeral muscular dystrophy |
204 | — |
| 肌肉強直症 Myotonic dystrophy |
200 | — |
| DiGeorge 症候群 DiGeorge syndrome |
190 | — |
| 雷特氏症 Rett syndrome |
163 | — |
| 遺傳性低磷酸鹽佝僂症 Hereditary hypophosphatemic rickets |
148 | 4 |
| 遺傳性表皮分解性水皰症 Hereditary epidermolysis bullosa |
139 | — |
| 肢近端型點狀軟骨發育不良 Rhizomelic chondrodysplasia punctata |
133 | — |
| Dravet 症候群 Dravet syndrome, DS |
130 | 6 |
| 瓜胺酸血症 Citrullinemia |
122 | 3 |
| 甘迺迪氏症(脊髓延髓性肌肉萎縮症) Kennedy disease |
121 | — |
| 肢帶型肌失養症 Limb-girdle muscular dystrophy |
119 | — |
| 陣發性夜間血紅素尿症 Paroxysmal nocturnal hemoglobinuria |
117 | 7 |
| 黏多醣症 Mucopolysaccharidoses |
116 | 7 |
| 戊二酸尿症，第一型、第二型 Glutaric aciduria type I、II |
109 | — |
| MELAS 症候群 MELAS |
95 | — |
| 外胚層增生不良症 Ectodermal dysplasias |
91 | — |
| Angelman 氏症候群 Angelman syndrome |
82 | — |
| Bartter 氏症候群 Bartter’s syndrome |
82 | — |
| 神經纖維瘤症候群第二型 Neurofibromatosis type Ⅱ |
77 | — |
| Kabuki 症候群 Kabuki syndrome |
76 | — |
| 非典型性尿毒溶血症候群 Atypical hemolytic uremic syndrome |
75 | 2 |
| Crouzon 氏症候群 Crouzon syndrome |
70 | — |
| 假性副甲狀腺低能症 Pseudohypoparathyroidism |
69 | — |
| 三甲基巴豆醯輔酶A羧化酵素缺乏症 3-Methylcrotonyl-CoA carboxylase deficiency |
66 | — |
| 持續性幼兒型胰島素過度分泌低血糖症 Persistent hyperinsulinemic hypoglycemia of infancy (PHHI) |
66 | — |
| 瓦登伯格氏症候群 Waardenburg syndrome |
63 | — |
| 色素失調症 Incontinentia pigmenti |
61 | — |
| Beckwith Wiedemann 氏症候群 Beckwith Wiedemann syndrome |
59 | — |
| Cornelia de Lange 氏症候群 Cornelia de Lange syndrome |
59 | — |
| Kallmann 氏症候群 Kallmann syndrome |
52 | — |
| 腎上腺腦白質失養症 Adrenoleukodystrophy |
51 | — |
| 同合子家族性高膽固醇血症 Homozygous familial hypercholesterolemia |
48 | 4 |
| 甲基丙二酸血症 Methylmalonic acidemia |
48 | 1 |
| 貝克型肌肉失養症 Becker muscular dystrophy |
48 | — |
| 遺傳性血管性水腫 Hereditary angioedema (HAE) |
48 | 4 |
| Rubinstein-Taybi 氏症候群 Rubinstein-Taybi syndrome |
46 | — |
| 鎖骨顱骨發育異常 Cleidocraninal dysplasia |
46 | — |
| 先天性尿素循環代謝障礙 Congenital urea cycle disorders |
45 | 4 |
| 芳香族L-胺基酸類脫羧基酶缺乏症 Aromatic L-amino acid decarboxylase deficiency |
44 | 1 |
| Von Hippel-Lindau症候群 Von Hippel-Lindau disease |
43 | 1 |
| 先天性肌失養症 Congenital muscular dystrophy |
41 | — |
| 脂肪酸氧化作用缺陷 Fatty acid oxidation defect |
41 | — |
| Bardet-Biedl 氏症候群 Bardet-Biedl syndrome |
38 | — |
| Darier 氏症(毛囊角化病) Darier’s disease |
38 | — |
| 遺傳性出血性血管擴張症 Hereditary hemorrhagic telangiectasia |
38 | — |
| CHARGE 症候群 CHARGE syndrome |
35 | — |
| 高雪氏症 Gaucher disease |
33 | 6 |
| 愛伯特氏症 Apert syndrome |
32 | — |
| 高胱胺酸尿症 Homocystinuria |
32 | — |
| 血小板無力症 Thrombasthenia |
31 | — |
| 水泡型先天性魚鱗癬樣紅皮症(表皮鬆解性角化過度症) Bullous congenital ichthyosiform erythoderma (epidermolytic hyperkeratosis) |
29 | — |
| McCune Albright 氏症候群 McCune Albright syndrome |
28 | — |
| 楓糖尿症 Maple syrup urine disease |
28 | — |
| Alstrom 氏症候群 Alstrom syndrome |
26 | — |
| Nemaline 線狀肌肉病變 Nemaline rod myopathy |
26 | — |
| Stargardt's 氏症 Stargardt's disease |
25 | — |
| Pelizaeus-Merzbacher 氏症(慢性兒童型腦硬化症) Pelizaeus-Merzbacher disease |
24 | — |
| 先天結締組織異常第四型 Ehlers Danlos syndrome Ⅳ |
24 | — |
| Treacher Collins 氏症候群 Treacher Collins syndrome |
23 | — |
| 亞伯氏症候群 Alport syndrome |
23 | — |
| 僵體症候群 Stiffperson syndrome |
22 | — |
| 布魯頓氏低免疫球蛋白血症 Bruton’s agammaglobulinemia |
22 | — |
| 涎酸酵素缺乏症 Sialidosis |
22 | — |
| CFC 症候群 Cardiofaciocutaneous syndrome |
21 | — |
| 假性軟骨發育不全 Pseudoachondroplastic dysplasia |
21 | — |
| 原發性慢性肉芽腫病 Chronic primary granulomatous disease |
21 | — |
| 有機酸血症 Organic acidemias |
21 | — |
| 鳥胺酸氨甲醯基轉移酶缺乏症 Ornithine transcarbamylase deficiency |
21 | 3 |
| 進行性家族性肝內膽汁滯留症 Progressive familial intrahepatic cholestasis, PFIC |
20 | 5 |
| 雷伯氏遺傳性視神經病變 Leber hereditary optic neuropathy |
20 | 1 |
| 高甲硫胺酸血症 Hypermethioninemia |
20 | — |
| Joubert 氏症候群(家族性小腦蚓部發育不全) Joubert syndrome |
19 | — |
| Leigh 氏童年期腦脊髓病變 Leigh disease |
19 | — |
| Lowe 氏症候群 Lowe syndrome |
19 | — |
| 中心軸空肌病 Central core disease |
19 | — |
| 先天性腎上腺發育不全 Congenital adrenal hypoplasia |
19 | — |
| 半乳糖血症 Galactosemia |
19 | — |
| 嚴重複合型免疫缺乏症 Severe combined immunodeficiency |
19 | — |
| Niemann-Pick 氏症，鞘髓磷脂儲積症 Niemann-Pick disease |
18 | 2 |
| 層狀魚鱗癬(自體隱性遺傳型) Ichthyosis, lamellar recessive |
17 | — |
| 皮膚過度角化症雅司病 Diffuse non-epidermolytic palmoplantar keratoderma type Unna- Thost |
17 | — |
| 先天性中樞性換氣不足症候群 Congenital central hypoventilation syndrome |
16 | — |
| 囊狀纖維化症 Cystic fibrosis |
16 | 1 |
| 泛酸鹽激酶關聯之神經退化性疾病 Pantothenate kinase associated neurodegeneration (PKAN) |
16 | — |
| 第一型遺傳性維生素D 依賴型佝僂症 25-Hydroxyvitamin D 1-alpha- hydroxylase deficiency |
16 | — |
| 腦血管屏障葡萄糖輸送缺陷 Glut (Glucose transport)1 deficiency syndrome |
16 | — |
| 酪胺酸羥化酶缺乏症 Tyrosine hydroxylase deficiency |
16 | — |
| 阿拉吉歐症候群 Alagille syndrome |
16 | 5 |
| 骨質石化症 Osteopetrosis |
16 | — |
| 肌小管病變 Myotubular myopathy |
15 | — |
| Meleda 島病 Meleda disease |
14 | — |
| Moebius 症候群 Moebius syndrome |
14 | — |
| 先天性高免疫球蛋白E 症候群 Congenital hyper IgE syndrome |
14 | — |
| MNGIE 症候群粒線體性神經胃腸腦病變症候群 Mitochondrial neurogastrointestinal encephalopathy syndrome |
13 | — |
| 先天性全身脂質營養不良症 Congenital generalized lipodystrophy |
13 | — |
| 多發性羧化酶缺乏症 Multiple carboxylase deficiency |
13 | — |
| 家族性高乳糜微粒血症 Familial hyperchylomicronemia |
13 | — |
| 胺基酸代謝疾病 Amino acid metabolic disorders (Aminoacidopathies) |
13 | — |
| 豆固醇血症(植物性) Sitosterolemia |
13 | — |
| MECP2綜合症候群 Methyl CpG binding protein 2 duplication syndrome (MECP2 duplication syndrome) |
12 | — |
| Wiskott-Aldrich 氏症候群 Wiskott-Aldrich syndrome |
12 | — |
| 共濟失調微血管擴張症候群 Ataxia telangiectasia |
12 | — |
| 多發性骨骺發育不全症 Multiple epiphyseal dysplasia |
12 | — |
| 皮特-霍普金斯症候群 Pitt-Hopkins syndrome |
12 | — |
| 萊伯氏先天性黑矇症 Leber congenital amaurosis |
12 | 1 |
| Cockayne 氏症候群(柯凱因氏症候群) Cockayne syndrome |
11 | — |
| Emery-Dreifuss 肌失養症 Emery-Dreifuss muscular dystrophy (EDMD) |
11 | — |
| GNE 遠端肌病變 GNE myopathy |
11 | — |
| Lesch-Nyhan 氏症候群 Lesch-Nyhan syndrome |
11 | — |
| 低磷酸酯酶症 Hypophosphatasia |
11 | 2 |
| MLD 症候群 Metachromatic leukodystrophy (MLD) |
10 | — |
| 高免疫球蛋白M 症候群 Hyper-IgM syndrome |
10 | — |
| 黏脂質症 Mucolipidosis |
10 | — |
| Alexander 氏病 Alexander disease |
9 | — |
| 異戊酸血症 Isovaleric acidemia |
9 | 1 |
| 短鏈脂肪酸去氫酶缺乏症 Short-chain acyl-CoA dehydrogenase deficiency |
9 | — |
| Aarskog-Scott 氏症候群 Aarskog-Scott syndrome |
8 | — |
| Netherton 症候群 Netherton syndrome |
8 | — |
| 中鏈脂肪酸去氫酵素缺乏症 Medium-chain acyl-coenzyme A dehydrogenase deficiency (MCAD) |
8 | — |
| 先天性痛不敏感症合併無汗症 Congenital insensitivity to pain with anhidrosis (CIPA) |
8 | — |
| 多發性翼狀膜症候群 Multiple pterygium syndrome |
8 | — |
| 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) |
8 | — |
| 指（趾）甲髕骨症候群 Nail-Patella syndrome |
8 | — |
| 耳-齶-指（趾）症候群 Oto-Palato-Digital syndrome |
8 | — |
| 進行性骨化性肌炎 Fibrodysplasia ossificans progressiva |
8 | — |
| Branchio-Oto-Renal 症候群(BOR 症候群) Branchio-Oto-Renal syndrome (BOR syndrome) |
7 | — |
| Miller Dieker 症候群 Miller Dieker syndrome |
7 | — |
| Myhre 症候群 Myhre syndrome |
7 | — |
| 丙酮酸鹽脫氫酶缺乏症 Pyruvate dehydrogenase deficiency |
7 | — |
| 神經元蠟樣脂褐質儲積症 Neuronal ceroid lipofuscinosis |
7 | 1 |
| 非酮性高甘胺酸血症 Nonketotic hyperglycinemia |
7 | 1 |
| 體染色體隱性多囊性腎臟疾病 Autosomal recessive polycystic kidney disease |
7 | — |
| 黑尿症 Alkaptonuria |
7 | — |
| Andersen 氏症候群(心節律障礙暨週期性麻痺症候群；鉀離子通道病變) Andersen syndrome |
6 | — |
| Beta 螺旋狀蛋白關聯之神經退化疾病 Beta-Propeller protein-associated neurodegeneration (BPAN) |
6 | — |
| 先天性膽酸合成障礙 Inborn errors of bile acid synthesis |
6 | 2 |
| 克斯提洛氏彈性蛋白缺陷症 Costello syndrome |
6 | — |
| 早老症 Hutchinson Gilford progeria syndrome |
6 | — |
| Ayme-Gripp 症候群 Ayme-Gripp syndrome |
5 | — |
| Fraser 氏症候群 Fraser syndrome |
5 | — |
| Freeman-Sheldon 氏症候群 Freeman-Sheldon syndrome |
5 | — |
| Menkes 症候群 Menkes syndrome |
5 | — |
| γ 干擾素受體1缺陷 Interferon γ receptor 1 deficiency |
5 | — |
| 三甲基胺尿症 Trimethylaminuria |
5 | — |
| 丙酸血症 Propionic acidemia |
5 | 1 |
| 岩藻糖代謝異常(儲積症) Fucosidosis |
5 | — |
| 海勒曼-史德萊夫氏症候群 Hallerman-Streiff syndrome |
5 | — |
| 胱胺酸血症 Cystinosis |
5 | — |
| 隱匿性黃斑部失養症 Occult macular dystrophy；OMD |
5 | — |
| Kearns-Sayre 氏症候群 Kearns-Sayre syndrome |
4 | — |
| Kenny-Caffey 氏症候群 Kenny-Caffey syndrome |
4 | — |
| Laron 氏侏儒症候群 Laron syndrome (Laron Dwarfism) |
4 | 1 |
| Robinow 氏症候群 Robinow syndrome |
4 | — |
| Smith-Lemli-Opitz 氏症候群 Smith-Lemli-Opitz syndrome |
4 | — |
| Wolfram 氏症候群 Wolfram syndrome, DIDMOAD |
4 | — |
| 同基因合子蛋白質C 缺乏症 Homozygous protein C deficiency |
4 | 1 |
| 大腦肌酸缺乏症 Cerebral creatine deficiency |
4 | — |
| 嬰兒型上行性遺傳性痙攣性麻痺 Infantile-onset ascending hereditary spastic paralysis, IAHSP |
4 | — |
| 巴氏症候群 Barth syndrome |
4 | — |
| 生物素酶缺乏症 Biotinidase deficiency |
4 | — |
| 裂手裂足症 Split-hand/ Split-foot malformation (SHFM) |
4 | — |
| 遺傳性高酪胺酸血症 Hereditary tyrosinemia |
4 | — |
| 3-羥基-3-甲基戊二酸血症 3-Hydroxy-3-methylglutaric acidemia |
3 | — |
| Coffin-Lowry 症候群 Coffin-Lowry syndrome |
3 | — |
| Galloway-Mowat 症候群 Galloway-Mowat syndrome |
3 | — |
| Holt-Oram 氏症候群 Holt-Oram syndrome |
3 | — |
| Schaaf-Yang 症候群 Schaaf-Yang syndrome |
3 | — |
| Schwartz Jampel 氏症候群 Schwartz Jampel syndrome |
3 | — |
| Zellweger 氏症候群 Zellweger syndrome |
3 | 2 |
| 先天性血栓性血小板低下紫斑症 Congenital thrombotic thrombocytopenic purpura |
3 | 2 |
| 先天性角化不全症 Dyskeratosis congenita |
3 | — |
| 原發性變形性骨炎 Primary Paget disease |
3 | 1 |
| 史托摩根症候群 Stormorken syndrome |
3 | — |
| 多微小軸空肌病 Multiminicore disease |
3 | — |
| 懷特-薩頓症候群 White-Sutton syndrome |
3 | — |
| 普洛提斯症候群 Proteus syndrome |
3 | — |
| 硫胺素(維生素B1)代謝功能障礙症候群 Thiamine metabolism dysfunction syndromes |
3 | — |
| 磷脂質脂解酶A2關聯之神經退化性疾病 Phospholipase A2-associated neurodegeneration (PLAN) |
3 | — |
| 腦腱性黃瘤症 Cerebrotendinous xanthomatosis |
3 | — |
| 鉬輔酶缺乏症 Molybdenum cofactor deficiency |
3 | — |
| 髮-肝-腸症候群 Tricho-hepato-enteric syndrome |
3 | — |
| Aicardi-Goutieres 症候群 Aicardi-Goutieres syndrome |
2 | — |
| GM1/GM2神經節苷脂儲積症 GM1/GM2 gangliosidosis |
2 | — |
| Larsen 氏症候群(顎裂-先天性脫位症候群) Larsen syndrome |
2 | — |
| Nager 症候群 Nager syndrome |
2 | — |
| Peters-Plus 症候群 Peters-Plus syndrome |
2 | — |
| Pfeiffer 氏症候群 Pfeiffer syndrome |
2 | — |
| 四氫基喋呤缺乏症 Tetrahydrobiopterin deficiency |
2 | 3 |
| 多發性硫酸脂酶缺乏症 Multiple sulfatase deficiency |
2 | — |
| 永久性新生兒糖尿病 Permanent neonatal diabetes mellitus |
2 | — |
| 腦肋小頜症候群 Cerebro-Costo-Mandibular syndrome |
2 | — |
| Beta 硫解酶缺乏症 Beta-Ketothiolase deficiency |
1 | — |
| Conradi-Hunermann 氏症候群 Conradi-Hunermann syndrome |
1 | — |
| Mcleod 症候群 Mcleod syndrome |
1 | — |
| Werner 症候群 Werner syndrome |
1 | — |
| 典型苯酮尿症合併蔗糖酶同麥芽糖酶缺乏症 PAH type PKU combine with sucrase- isomaltase deficiency |
1 | — |
| 原發性高草酸鹽尿症 Primary hyperoxaluria |
1 | — |
| 嘌呤合成代謝異常 Disorders of purine biosynthesis metabolism |
1 | — |
| 斑色魚鱗癬 Harlequin ichthyosis |
1 | — |
| 森森布倫納症候群 Sensenbrenner syndrome |
1 | — |
| 特發性嬰兒動脈硬化症 Idiopathic infantile arterial calcification |
1 | — |
| 球細胞腦白質失養症 Globoid cell leukodystrophy (Krabbe’s disease) |
1 | — |
| 窒息性胸腔失養症 Asphyxiating thoracic dystrophy |
1 | — |
| 腎上腺皮促素抗性 ACTH resistance |
1 | — |
| 腦白質消失症 Vanishing white matter disease |
1 | — |
| 膠膜兒 Collodion baby |
1 | — |
| 顱骨幹骺端發育不良 Craniometaphyseal dysplasia |
1 | — |
| 高脯胺酸血症 Hyperprolinemia |
1 | — |
| 高鳥胺酸血症-高氨血症-高瓜胺酸血症症候群 Hyperornithinemia-Hyperammonemia- Homocitrullinuria syndrome |
1 | 1 |
| Basilicata-Akhtar症候群 Basilicata-Akhtar syndrome |
— | — |
| IPEX 症候群 IPEX syndrome |
— | — |
| MIRAGE 症候群 MIRAGE syndrome |
— | — |
| α1-抗胰蛋白酶缺乏症 α1- Antitrypsin deficiency |
— | — |
| 乙醯榖胺酸合成酶缺乏症 Nitroacetylglutamate synthetase deficiency, NAG synthetase deficiency |
— | 1 |
| 亞硫酸鹽氧化酶缺乏 Sulfite oxidase deficiency |
— | — |
| 先天性Cajal 氏間質細胞增生合併腸道神經元發育異常 Congenital interstitial cell of Cajal hyperplasia with neuronal intestinal dysplasia |
— | — |
| 先天性醣基化障礙 Congenital disorder of glycosylation, CDG |
— | — |
| 克片-魯賓斯基症候群 Keppen-Lubinsky syndrome |
— | — |
| 嬰兒型溶酶體酸性脂肪酶缺乏症(又稱伍爾曼氏症) Infantile form lysosomal acid lipase deficiency (Wolman disease) |
— | — |
| 巨膀胱-細小結腸-腸蠕動不良症候群 Megacystis-microcolon-intestinal hypoperistalsis syndrome |
— | — |
| 甲基丙二酸血症併高胱胺酸尿症,cb1C 型 Cobalamin C defect (Methylmalonic acidemia and Homocystinuria, cb1C type) |
— | — |
| 短指發育不良及性別顛倒 Campomelic dysplasia with autosomal sex reversal |
— | — |
| 紫質症 Porphyria |
— | 2 |
| 組胺酸血症 Histidinemia |
— | — |
| 舞蹈症-棘紅細胞增多症 Chorea-acanthocytosis |
— | — |
| 補體成份8缺乏症 Complement component 8 deficiency |
— | — |
| 轉醛醇酶缺乏症 Transaldolase deficiency |
— | — |
| 高離胺酸血症 Hyperlysinemia |
— | — |
領證人數：健保署重大傷病（罕見疾病類）有效領證統計（2026-09），病名與國健署公告完全相同才採用；「—」表示統計表沒有同名列。領證人數不等於患者人數。罕藥：食藥署罕藥許可證中適應症寫到該病者。
常見問題
台灣有哪些罕見疾病？
國民健康署公告的罕見疾病共 250 種，本頁依重大傷病領證人數排序列出全部病名。
罕見疾病的藥健保有給付嗎？
罕藥須經罕見疾病及藥物審議會認定公告；是否健保給付、給付條件依藥品給付規定。點進各病的頁面可看到該病的罕藥與相關給付規定節。
資料來源
整理：RxAthena 藥策智庫・資料截至 2026-10-21。僅供資訊參考，不構成醫療、法律或送審建議；實際以各主管機關現行公告為準。