Conditions We Treat
Skeletal Health and Dysplasia Clinic
The Skeletal Health and Dysplasia Clinic at Phoenix Children’s diagnoses, treats, and manages rare bone conditions and skeletal dysplasia in children and young adults. In many cases, we can diagnose prenatally — before your child is born — to help you prepare and better plan for your child’s care and future.
Most of the conditions we treat are extremely rare, which means finding the right specialists can be a challenge. If your child has a bone disorder, dysplasia or any genetic condition affecting skeletal health, our team of experts can help.
Some of the conditions we see include:
- 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.
- Campomelic dysplasia – Rare skeletal dysplasia that typically affects development of the skeleton (including cleft palate and bowing of the legs), respiratory system and reproductive system.
- Cartilage-hair hypoplasia (metaphyseal chondrodysplasia McKusick type) – 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.
- Diastrophic dysplasia – 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.
- Ellis Van Creveld syndrome – 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.
- Fibrous dysplasia – Rare bone disorder that causes certain bones to be replaced by abnormal scar-like (fibrous) connective tissue often leading to pain and weakened bones prone to fracture.
- Mucopolysaccharidosis Type I (Hurler syndrome, Hurler-Scheie syndrome) – 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. Visit our Lysosomal Clinic.
- Mucopolysaccharidosis Type II (Hunter syndrome) – 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. Visit our Lysosomal Clinic.
- Mucopolysaccharidosis Type IV (Morquio syndrome) – 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. Visit our Lysosomal Clinic.
- Mucopolysaccharidosis Type VI (Maroteaux-Lamy syndrome) – 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. Visit our Lysosomal Clinic.
- Hypochrondroplasia – 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.
- Hypophosphatasia – A rare genetic condition that causes impaired mineralization of the bones and teeth from decreased alkaline phosphatase activity leading to bones that are soft and prone to deformity and fracture. Severity can range from perinatal death to fractures that don’t begin until adulthood or early tooth loss only.
- Hypophosphatemic rickets (XLH) – A rare genetic condition that causes low phosphate levels in the blood from phosphorus losses in the urine, often leading to soft and weak bones, as well as other features including bowed legs, bone pain, short stature and dental problems.
- Kniest dysplasia – 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.
- McCune-Albright syndrome – An extremely rare disorder that affects the bones, skin and hormone-producing glands. In this syndrome, some bones may be replaced by scar-like tissue (polyostotic fibrous dysplasia) causing bone pain and fragility. The skin may have characteristic brown patches (café au lait spots), and there may be dysfunction of certain endocrine glands causing increased hormone production (growth hormone excess, precocious puberty, hyperthyroidism, Cushing syndrome).
- Metaphyseal dysplasia – 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.
- Metatropic dysplasia – 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.
- Multiple epiphyseal dysplasia – 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.
- Osteogenesis imperfecta – Also known as brittle bone disease. May cause soft bones that break (fracture) easily, bones that are not formed normally and other problems. Symptoms may range from mild to severe.
- Osteopathia striata with cranial sclerosis – 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.
- Osteopetrosis – 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.
- Primordial dwarfism – 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.
- Pseudoachondroplasia – 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.
- Short-rib thoracic dysplasia – 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.
- Spondyloepimetaphyseal dysplasia (SEMD) – 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
- Spondyloepiphyseal dysplasia (SED) – 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.
- Stickler syndrome – A group of connective tissue disorders that can affect the eyes, ears, skeleton, and joints and that are characterized by vision problems, cataracts, retinal detachments, sensorineural hearing loss, flat mid-face, small nose and chin, palate abnormalities, joint hypermobility, spine curvature and early osteoarthritis.
- Thanatophoric dysplasia – 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.