Children Rare Diseases Risk Report 兒童罕見疾病風險報告 

Part of Screening Contents 篩選內容的一部分: 

• Dental Enamel Hypoplasia牙釉質發育不全

• Systemic onset juvenile chronic arthritis全身性青少年慢性關節炎

• Severe hypothyroidism嚴重的甲狀腺功能減退症

• Juvenile rheumatoid arthritis幼年型類風濕性關節炎

• Lymphocytosis淋巴細胞增多

• Neonatal thrombocytopenia (disorder)新生兒血小板減少症（障礙）

• EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33癲癇性腦病，早期嬰兒，33

• CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IInII型糖尿病的先天性疾病

• Congenital Generalized Lipodystrophy Type 2先天性廣泛性脂肪代謝障礙2型

• Neonatal insulin-dependent diabetes mellitus新生兒胰島素依賴型糖尿病

• Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency乳酸性酸中毒，先天性嬰兒，由於缺乏

• Infantile Sandhoff Disease嬰兒桑德霍夫病

• Juvenile Spinal Muscular Atrophy少年脊髓肌肉萎縮

• Constitutional delay of growth and puberty憲法延遲增長和青春期

• Early onset torsion dystonia早發性扭轉肌張力障礙

• MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL肌無力症 ，先天性，2A，慢通道

• Muscular Dystrophy, Congenital, due to Partial LAMA2 Deficiency肌肉萎縮症，先天性，由於部分LAMA2缺乏

• Childhood Medulloblastoma兒童成神經管細胞瘤

• Childhood Astrocytoma兒童星形細胞瘤

• Childhood Osteosarcoma兒童期骨肉瘤

• Lymphoblastic leukemia in children兒童淋巴母細胞白血病

• Childhood Ganglioglioma兒童神經膠質瘤

• Childhood Hepatocellular Carcinoma兒童肝細胞癌

• Cardiac valvular dysplasia, X-linked心臟瓣膜發育不良，X連鎖

• Vascular stenosis血管狹窄

• Spondyloepiphyseal Dysplasia, Kimberley Type脊椎發育不良發育不良，金伯利型

• SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3脊椎肋骨發育不全，體染色體隱性 3

• Metachromatic Leukodystrophy, Infant異染性腦白質營養不良，嬰兒

• NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO神經管缺陷，易感性

• Adrenoleukodystrophy, Neonatal腎上腺腦白質營養不良，新生兒

• Necrotizing enterocolitis in fetus OR newborn胎兒或新生兒壞死性小腸結腸炎

• Aplasia/hypoplasia of the femur股骨發育不全/發育不全

• Cystinosis, Infantile Nephropathic胱氨酸病，嬰兒腎病

• Kyphoscoliosis deformity of spine脊柱後凸畸形脊柱畸形

• Childhood Langerhans Cell Histiocytosis兒童朗格漢斯細胞組織細胞增生症

• IMMUNODEFICIENCY 17免疫缺陷17

• Hypothyroidism, Congenital, Nongoitrous, 4甲狀腺功能減退症，先天性，非遺傳性，4

• Neonatal hemolytic anemia新生兒溶血性貧血

• Neonatal encephalopathy新生兒腦病

• Hypoplastic acetabulae發育不良的髖臼

• Congenital Generalized Lipodystrophy Type 1先天性廣泛性脂肪營養不良1型

• Congenital Disorder of Glycosylation, Type Io先天性糖基化障礙，Io型

• Maturity-onset diabetes of the young, type 10成熟型糖尿病的年輕人，10型

• Cataract, Juvenile, With Microcornea And Glucosuria    內障，少年，微血管和葡萄糖尿症

• CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iu糖尿病的先天性疾病，Iu型

• Generalized glycogen storage disease of infants嬰兒的廣義糖原貯積病

• Familial Partial Lipodystrophy, Type 2家族性部分性脂肪營養不良，2型

• Glycogen Storage Disease Type II, Infantile糖原貯積病II型，嬰兒期

• Dystonia, Primary肌張力障礙，小學

• Muscular Dystrophy, Congenital, Megaconial Type肌肉萎縮症，先天性，Megaconial型

• Acral pseudolymphomatous angiokeratoma of children (APACHE)兒童肢端假性血管性角膜瘤（APACHE）

• Adrenocortical Carcinoma, Pediatric腎上腺皮質癌，小兒科

• Juvenile polyposis syndrome青少年息肉綜合症

• Congenital central hypoventilation先天性中樞通氣不足

• Aortic Valve Insufficiency主動脈瓣膜功能不全

• CARDIOMYOPATHY AND DEAFNESS心臟瓣膜缺陷，發育

• ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (disorder)致心律失常性右心室發育不良，家族的，5（障礙）

• Paroxysmal familial ventricular fibrillation陣發性家族性心室顫動

• Childhood nephrotic syndrome兒童腎病綜合症

• DEAFNESS, AUTOSOMAL RECESSIVE 18B聽力缺損，體染色體隱性 18B

• Metachromatic leukodystrophy, juvenile type異色性腦白質營養不良，幼年型

• Corpus callosum agenesis neuronopathy發育不全神經元病

• Bulimia Nervosa神經性貪食症

• INFANTILE LIVER FAILURE SYNDROME 1嬰兒肝衰竭綜合症1

• LIVER FAILURE, INFANTILE, TRANSIENT肝功能衰竭，嬰兒，暫時性

• Childhood Acute Lymphoblastic Leukemia兒童急性淋巴細胞白血病

• Childhood Acute Myeloid Leukemia兒童急性髓性白血病

• Poliosis白髮症

• SCLEROSING CHOLANGITIS, NEONATAL硬化性膽管炎，新生兒