Achondroplasia

Achondroplasia, the most common form of skeletal dysplasia, is a rare genetic condition caused by gain-of-function variation to a gene that plays a key role in developing and maintaining bones. This results in reduced endochondral bone growth and short stature.

Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a progressive neuromuscular condition caused by a deficiency in dystrophin, an essential protein in muscle fibers. It mostly affects boys, with onset of symptoms around 2 to 3 years of age.

Hypochondroplasia

Hypochondroplasia, a form of skeletal dysplasia, is a rare genetic condition caused by gain-of-function variation to a gene that plays a key role in developing and maintaining bones. This results in reduced endochondral bone growth and short stature.

Idiopathic Short Stature

Idiopathic short stature (ISS) describes a condition in which children have a height more than two standard deviations below the mean for average stature population for age and gender, where known causes of short stature have been excluded.

Noonan Syndrome

Noonan syndrome is a genetic condition caused by a gain-of-function variation in the RAS/MAPK signaling pathway, which plays a key role in cell growth, division and differentiation. People with Noonan syndrome may experience heart defects, short stature, skeletal abnormalities and variable cognitive impairment.

Phenylketonuria (PKU)

Phenylketonuria (PKU) is a rare inherited metabolic condition caused by a lack of the enzyme phenylalanine hydroxylase (PAH). This leads to a buildup of the amino acid Phe, which impacts the brain, if not managed through a low-protein diet.

SHOX Deficiency

SHOX deficiency, or short stature homeobox-containing gene deficiency, is a genetic condition caused by changes to or absence of the SHOX gene. SHOX deficiency is associated with a wide spectrum of short-stature phenotypes, including Turner syndrome and Léri–Weill dyschondrosteosis.

Turner Syndrome

Turner syndrome is a genetic condition caused by partial or total loss of one X chromosome, and therefore only impacts girls and women. Almost all people with Turner syndrome are of short stature and experience premature ovarian failure.