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/ Partial Trisomy 13

Edwards Syndrome (Trisomy 18) 

Anorectal Malformation

Pink Tetralogy of Fallot (PTOF)


Klippel-Trenaunay Syndrome

Goldhaar Syndrome

Linear Nevus Sebaceous Syndrome


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 Syndrome

Pierre Robin Syndrome

SLC6A8-related creatine transporter deficiency

BRWD3-related X-linked syndromic intellectual disability

Primary Microcephaly With or Without Cortical Malformations

Sickle Cell Disease


Marfan Syndrome

SCN1A- Related Seizure Disorders

Glycogen Storage Disease, type II

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

Alopecia Areata 

GJB1-related disorders

Witteveen-Kolk Syndrome

GRIN2A-complex neurodevelopmental disorder

LAMA2-related congenital muscular dystrophy

16p12.2p11.2 Deletion Syndrome

Neuroocular syndrome

COL4A1-related disorders

STXBP1-relatedneurodevelopmental Disorder

AP1S2-related X-linked syndromic intellectual disability

Mucopolysaccharidosis type II

Mucopolysaccharidosis type Iva

Epididymitis Bullosa

INSR-related severe syndromic insulin resistance

COL2A1 Related disorders

Hereditary Transthyretin amyloidosis


WAC-related intellectual disability/ DeSanto-Shinawi syndrome

Undiagnosed Syndromes