Congenital cystic disease of the liver is an umbrella term for birth-related (genetic or developmental) problems where tiny tubes in the developing liver (the ...

Autosomal dominant polycystic liver disease (ADPLD) is a genetic condition where many fluid-filled cysts grow in the liver. Over time, cysts can become ...

A contiguous gene syndrome happens when a small piece of a chromosome is deleted or duplicated, and that piece contains several neighboring genes. Because more ...

TSC2/PKD1 contiguous gene syndrome is a rare genetic condition that happens when a single missing piece of DNA on chromosome 16 deletes two neighboring genes ...

TSC2/PKD1 contiguous gene syndrome is a rare genetic condition caused by a single, large missing piece of DNA on the short arm of chromosome 16 (region ...

Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis happens when a person is born with one large missing piece of DNA on chromosome 16 ...

Palmoplantar keratoderma with congenital alopecia (PPK-CA) is a rare, inherited skin-and-hair condition. Children are born with little to no scalp hair ...

Palmoplantar keratoderma and congenital alopecia, Stevanović type is a very rare genetic skin condition. Babies are usually born with little or no scalp or ...

Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia is a rare genetic condition that affects structures that come from the outer layer of ...

Autosomal dominant palmoplantar keratoderma and congenital alopecia (often shortened to PPK-CA1) is a very rare inherited skin disorder. “Palmoplantar ...

Osteosclerosis fragilis is an old, Latinized name that physicians used for a condition in which bones look very dense (sclerotic) but are paradoxically ...

Autosomal dominant osteopetrosis type 2 (ADO2) is a rare inherited bone disease where bones become unusually dense and hard because the bone-resorbing cells ...

Autosomal dominant Albers-Schönberg disease (ADO2) is a rare, inherited bone disorder where bones become abnormally dense but also more fragile. The problem ...

Albers-Schönberg disease is a rare, inherited bone disorder where bones become too dense because the cells that normally chew up old bone (called osteoclasts) ...

Autosomal dominant osteopetrosis type 2 (ADO2) is a rare, inherited bone disorder in which bones become unusually dense but also brittle. The problem comes ...

Optic Atrophy-Hearing Loss-Polyneuropathy-Myopathy Syndrome is a pattern of problems caused by faulty cell “power plants” (mitochondria) or proteins that shape ...