Tricho-odonto-onychodysplasia is a genetic condition in which the outer body tissues that come from the ectoderm (hair, teeth, nails, skin, sweat glands) do ...
Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Autosomal Dominant Tricho-Odonto-Onychodysplasia-Syndactyly is a very rare inherited ectodermal dysplasia in which structures made from the outer layer of the ...
Autosomal dominant spondylocostal dysplasia is a very rare, inherited disorder where the spine and ribs do not form normally before birth. The condition ...
Autosomal dominant spondylocostal dysostosis is a very rare birth condition that affects how the bones of the spine and ribs form. The small bones of the spine ...
Autosomal dominant severe congenital neutropenia (AD-SCN) is a rare, inherited immune disorder present from birth in which the body has very low numbers of ...
Autosomal Dominant Rhegmatogenous Retinal Detachment (AD-RRD) is an inherited eye condition in which the thin light-sensing tissue at the back of the eye (the ...
Autosomal dominant pseudohypoaldosteronism type 1 (AD-PHA1) is a rare genetic condition where the kidneys do not respond properly to aldosterone, the hormone ...
Progressive external ophthalmoplegia (PEO) is a disorder where the muscles that move your eyes and lift your eyelids slowly become weak over time. ...
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1 is a genetic disorder that mainly weakens the muscles that ...
Autosomal dominant progressive external ophthalmoplegia (AD-PEO) is a rare, inherited eye-muscle disorder where the muscles that move the eyes slowly get ...
Autosomal dominant primary microcephaly means a baby is born with a head size that is smaller than expected because the brain did not grow to the usual size ...
Autosomal dominant preaxial polydactyly–upper-back hypertrichosis syndrome is a very rare genetic condition. “Autosomal dominant” means a single changed copy ...
Autosomal dominant popliteal pterygium syndrome is a rare, inherited condition that affects how parts of the body form before birth—especially the face, skin, ...
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 ...
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 ...
Autosomal dominant osteopetrosis type 2 (ADO2) is a rare inherited bone disease where bones become unusually dense and hard because the bone-resorbing cells ...
