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 ...

Optic Atrophy-Deafness-Polyneuropathy-Myopathy Syndrome is a genetic, mitochondria-related disorder where the optic nerves slowly waste away (optic atrophy), ...

Optic atrophy type 8 (OPA8) is a hereditary eye and nerve condition where the optic nerves slowly waste away, causing vision to decline—usually starting in ...

Autosomal Dominant Optic Atrophy Plus (ADOA+) is a rare, inherited condition in which the optic nerves (the “cables” that carry visual signals from the eyes to ...

Autosomal dominant optic atrophy and peripheral neuropathy syndrome is a rare genetic condition where the optic nerves (the cables that carry visual signals ...

Autosomal dominant optic atrophy with peripheral neuropathy (ADOA-PN / “DOA+ with neuropathy”) is a rare genetic disorder. It mostly damages the optic nerve, ...

Omodysplasia is a very rare genetic bone growth disorder. It mainly affects the long bones of the arms and sometimes the legs. People have short upper limbs, ...

Autosomal dominant omodysplasia is a very rare genetic bone condition. “Omo” refers to the shoulder; “dysplasia” means an abnormal way that tissues grow. In ...

Autosomal dominant nonsyndromic hearing loss 53 (DFNA53) is a rare inherited form of sensorineural hearing loss that runs in families in an autosomal dominant ...

Autosomal dominant nonsyndromic hearing loss 3A (DFNA3A) is a genetic type of hearing loss passed in families where a single changed copy of a hearing gene is ...