Conditions We Treat

Achondroplasia, formerly known as dwarfism. Skeletal disorder in which cartilage is not made into bone as normal. Signs include short stature, short arms and legs, and a large head.

Rare skeletal dysplasia that typically affects development of the skeleton (including cleft palate and bowing of the legs), respiratory system and reproductive system.

Rare skeletal dysplasia marked by short stature and unevenly short arms and legs; joint hypermobility; fine, sparse or silky hair; and immune deficiency that can lead to recurrent infections.

Rare skeletal dysplasia that can cause short stature and unusually short arms and legs, abnormal development of the bones and joints, curvature of the spine (scoliosis) and respiratory complications. It can also cause possible malformations of the outer, visible portions of the ears and sometimes the head and face, such as cleft palate.

Rare skeletal dysplasia that can cause shortened limbs and short stature, additional fingers and/or toes (polydactyly), abnormal development of fingernails and congenital heart defects.

Rare skeletal dysplasia that causes short stature and disproportionately short arms, legs, hands and feet, as well as an enlarged head and prominent forehead in some individuals.

A rare skeletal dysplasia caused by changes in type 2 collagen, leading to short stature, shortened and bowed arms and legs, enlarged joints, barrel-shaped chest, relatively long trunk, spine curvature, eye problems, flat-appearing face and hernias.

A group of rare skeletal dysplasia conditions (Jansen, Schmid and McKusick types) that cause metaphyseal changes of the long bones (abnormalities at the ends of the long bones), shortened limbs, bowed legs, joint contractures, spine curvature and short stature.

A rare skeletal disorder characterized by short stature, shortened arms and legs, a long narrow chest, spine curvature, and contracture or stiffness of certain joints.

A lysosomal disorder that can result in a wide range of symptoms, including skeletal deformities; joint stiffness; clouding of the cornea; recurrent ear, respiratory and urinary infections; and hernias. Some also have developmental delays and regression. Enzyme replacement therapy is available. Learn more about our Lysosomal Clinic.

A lysosomal disorder, mostly found in males, affecting every system of the body. It can cause joint stiffness with restriction of movement, hearing loss, enlargement of liver and spleen, short stature, and, often, progressive cognitive disability. Enzyme replacement therapy is available. Learn more about our Lysosomal Clinic.

A rare lysosomal disorder that can result in short stature, scoliosis, hip problems and joint stiffness, as well as involvement of the lungs, heart, hearing and teeth. Enzyme replacement therapy is available. Learn more about our Lysosomal Clinic.

A rare lysosomal disorder with short stature and progressive joint disease, as well as involvement of the heart, lungs, vision and hearing. Enzyme replacement therapy is available. Learn more about our Lysosomal Clinic.

A group of at least six skeletal disorders with abnormal development of cartilage and bone of the epiphyses (very ends of long bones), characterized by pain in the hips and knees, mildly shortened arms and legs, fatigue, low muscle tone, abnormal gait, mild to moderate short stature and early arthritis.

A rare genetic condition that causes the bones to become unusually hard and thick with symptoms that may include skeletal abnormalities at the ends of long bones, hardening (sclerosis) of the bones of the head and face, large head size, cleft palate, developmental delay, hearing loss, heart defects, and breathing and feeding difficulties.

A rare bone disorder characterized by overly dense bones throughout the body due to a defect in bone reabsorption that can lead to bones becoming brittle and easy to fracture, low blood cell production and low blood calcium levels, liver and spleen enlargement, macrocephaly, hydrocephalus, loss of cranial nerve function (blindness, deafness, facial nerve paralysis), and dental and jaw problems.

A group of rare skeletal dysplasia conditions characterized by decreased intrauterine growth, slow growth after birth, small head, beak-like or prominent nose, small jaw, small and widely spaced teeth, small trunk and extremities that are proportionate to height, thin long bones, spine curvature, high-pitched voice and extreme short stature.

A skeletal dysplasia characterized by disproportionately short stature, typical face and head size, shortened extremities, bowing of legs or knocked knees, spine curvature and instability, and early onset osteoarthritis and pain.

A group of skeletal ciliopathies, including Ellis Van Creveld syndrome, characterized by a constricted thoracic cage, short ribs, shortened long bones, respiratory problems, and sometimes extra fingers or toes and other organ abnormalities.

A type of rare skeletal dysplasia that causes short stature, flat face, cleft palate, short limbs and trunk, abnormal metaphyses and epiphyses (ends of long bones), bowed legs or knock knees, clubfoot, spine curvature, decreased lung function and eye problems

A type of skeletal dysplasia characterized by decreased intrauterine growth and decreased growth through childhood, disproportionate short stature, flat face, short neck, barrel-shaped chest, spine curvature, cervical spine instability, stiff joints, bowed legs or knock knees, early onset osteoarthritis, eye problems and hearing loss.

A rare, severe skeletal dysplasia that causes short limbs with folds of extra skin on the extremities, a narrow chest, short ribs, large head and forehead, prominent and wide-spaced eyes, and underdeveloped lungs.