Ashkenazi Jewish Genetic Diseases
- Bloom’s Syndrome (BS)
- Canavan Disease
- Cystic Fibrosis (CF)
- Familial Dysautonomia (FD)
- Familial Hyperinsulinism
- Fanconi Anemia Type C
- Gaucher Disease Type 1
- Glycogen Storage Disorder Type 1A (GSD 1A)
- Joubert Syndrome Type 2
- Lipoamide Dehydrogenase Deficiency (E3)
- Maple Syrup Urine Disease (MSUD)
- Mucolipidosis Type 4 (ML4)
- Nemaline Myopathy
- Niemann-Pick Disease Type A
- Spinal Muscular Atrophy (SMA)
- Tay-Sachs Disease
- Usher Syndrome Type 3
- Usher Syndrome Type I
- Walker Warburg Syndrome (WWS)
Sephardic/Mizrahi Jewish Genetic Diseases
- Alpha-Thalassemia
- Ataxia Telangiectasia
- Beta-Thalassemia
- Corticosterone Methyloxidase Type II Deficiency
- Costeff Optical Atrophy
- Cystic Fibrosis (CF)
- Familial Creutzfeldt-Jakob Disease
- Familial Mediterranean Fever
- Familial Tumoral Calcinosis (Normophosphatemic Type)
- Glucose-6-Phosphate Dehydogenase Deficiency (G6PD)
- Inclusion Body Myopathy 2
- Limb Girdle Muscular Dystrophy Type 2B
- Metachromatic Leukodystrophy (MLD)
- Polyglandular Deficiency Syndrome
- Pseudocholinesterase Deficiency
- Spinal Muscular Atrophy (SMA)
- Wolman Disease
Corticosterone Methyloxidase Type II Deficiency
Also known as Aldosterone Synthase Deficiency II, Congenital Hypoaldersteronism
A rare form of congenital adrenal hyperplasia. Symptoms vary person to person. They include recurrent dehydration, salt wasting (body cannot maintain needed salt), and failure to thrive that can lead to vomiting, infantile seizures, shock, coma, and possible death in severe cases. More commonly, children can experience growth failure, short stature, blood pressure irregularities, weakness, dizziness and salt craving. Possible shortened life expectancy. Possible physical impairment. Treatment available when diagnosed early.
