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.

The resource and information center of Rare Disease Ghana Initiative gathers information and resources on all the 7000 rare diseases. This list was derived from cases reported from Ghana in the medical journals, media and cases referred 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
Diastrophic dysplasia
Fragile X Syndrome
Rubenstein-Turby Syndrome
Down Syndrome (Trisomy 21)
Abdominal Neuroblastoma
Congenital heart disease
Facial Oblique Syndrome
Patau Syndrome
Edwards Syndrome (Trisomy 18)
Anorectal Malformation/ Imperforate Anus

Pink Tetralogy of Fallot (PTOF)
Klippel-Trenaunay Syndrome
Goldhaar Syndrome
Linear Nevus Sebaceous Syndrome
Acute Promyelocytic Leukemia
Multiple Sclerosis
Multiple Myeloma  
Lam Disease
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
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
Infantile Spasm 

Marfan Syndrome 

Undiagnosed Syndromes