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 (vertebrae) can be misshapen, joined ...
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 neutrophils, a type of white blood cell ...
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 retina) pulls away from its normal ...
Autosomal dominant pseudohypoaldosteronism type 1 (AD-PHA1) is a rare genetic condition where the kidneys do not respond properly to aldosterone, the hormone that normally helps the body keep sodium ...
Progressive external ophthalmoplegia (PEO) is a disorder where the muscles that move your eyes and lift your eyelids slowly become weak over time. “Progressive” means it worsens little by little. ...
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 1 is a genetic disorder that mainly weakens the muscles that lift and move the eyes. “Progressive” means ...
Autosomal dominant progressive external ophthalmoplegia (AD-PEO) is a rare, inherited eye-muscle disorder where the muscles that move the eyes slowly get weaker over many years. People usually first ...
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 before birth. “Primary” tells us it starts ...
Autosomal dominant preaxial polydactyly–upper-back hypertrichosis syndrome is a very rare genetic condition. “Autosomal dominant” means a single changed copy of the gene region from either parent can ...
Autosomal dominant popliteal pterygium syndrome is a rare, inherited condition that affects how parts of the body form before birth—especially the face, skin, genitals, hands/feet, and the area ...
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 than one gene is affected at the same ...
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 at the same time: TSC2 (the tuberous ...
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 16p13.3). This deletion removes parts (or all) ...
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 that cuts across two side-by-side genes: ...
Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia is a rare genetic condition that affects structures that come from the outer layer of the embryo (the ectoderm). The three main ...
Autosomal dominant palmoplantar keratoderma and congenital alopecia (often shortened to PPK-CA1) is a very rare inherited skin disorder. “Palmoplantar keratoderma” means the skin of the palms and ...
