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List of Rare Diseases Reported in Ghana

A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population. Most rare diseases are genetic, and thus are present throughout the person’s entire life, even if symptoms do not immediately appear. Many rare diseases appear early in life, and about 30 percent of children with rare diseases will die before reaching their fifth birthday. 

This list was derived from cases reported from Ghana in the medical journals and cases reported directly to Rare Disease Ghana Initiative. 

We update our list frequently. Please keep checking back as this list continues to expand

Treacher-Collins Syndrome
Waardenburg Syndrome
Osteochondrodysplasias
Diastrophic dysplasia
Fragile X Syndrome
Rubenstein-Turby Syndrome
Down Syndrome (Trisomy 21)
Abdominal Neuroblastoma
Congenital heart disease
Porencephaly
Facial Oblique Syndrome
Patau Syndrome
Edwards Syndrome (Trisomy 18)
Anorectal Malformation
Pink Tetralogy of Fallot (PTOF)
Neurofibromatosis
Klippel-Trenaunay Syndrome
Goldhaar Syndrome
Linear Nevus Sebaceous Syndrome
Acute Promyelocytic Leukemia
Hemophilia
Multiple Sclerosis
Multiple Myeloma
Lupus
Albinism
Lam Disease
Ichthyosis
Biliary Atresia
Osteogenesis Imperfecta
Glucose-6-Phosphate Dehydrogenase (G6PD)
Autoimmune Encephalitis
WAGR Syndrome/ Wilms Tumor
Turner Syndrome
Beck With Wiederman

Pierre Robin Syndrome

Moebius Syndrome
Noonan Syndrome
Athroglyposis
Velocardiofacial/ DiGeorge Syndrome
Eosinophilic Enteritis
Congenital Nephrotic Syndrome
Pfeiffer syndrome Type 3
Fetal Alcohol Syndrome
Fibrodysplasia Ossificans Progressiva
Alternating Hemiplegia
Castleman’s Disease
Kawasaki Disease
Inflammatory Bowel Disease
Sjogren’s Syndrome
Thoracic Endometriosis Syndrome
Spinal Muscular Atrophy
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
Ceroid Lipoid Fuscinosis
Xeroderma Pigmentosum (XP)
De Sanctis Cacchione syndrome
Meckel Gruber Syndrome
Encephalocele
Lisencephaly
Thalassemia
Infantile Spasm
Undiagnosed Syndromes