Achondroplasia: A disorder characterized by problems with bone growth.
Blount disease: A bone developmental disorder that affects the shin bone (tibia) resulting in a progressive bow-legged appearance due to the inward facing angle of the shin bone. One or both legs may be affected.
Bowing of long bones congenital: A rare congenital disorder where the long bones in the arms and legs are abnormally bowed or shortened. The most common bones involved are the thigh, shin and forearm (ulna) bones. The deformity is often associated with other abnormalities.
Campomelia Cumming type: A rare syndrome characterized by limb and multiple abdominal organ abnormalities. The disorder results in death before birth or soon after.
Cartilage Hair Hypoplasia: A rare genetic disorder characterized by short stature, skeletal abnormalities and fine, fragile hair.
Cartilage-hair hypoplasia-like syndrome: A rare syndrome characterized by thin hair shafts, short stature, short limbs and other skeletal abnormalities. The condition is identical to the skeletal abnormality component of cartilage-hair hypoplasia syndrome.
Childhood hypophosphatasia: An inherited bone disorder due to an inborn error of metabolism characterized by a deficiency of alkaline phosphate which results in loss of deciduous teeth before the age of 5 as well as muscle and bone problems - childhood onset.
Classical Potter syndrome: A term that describes the physical appearance that occurs when kidney disease results in a reduced volume of amniotic fluid. In the classical type, both kidneys are absent.
Del (4) (pter-p16 or p16.1): A very rare chromosomal disorder where a portion of the short arm (pter-p16 or p16.1) of the genetic material on chromosome four is missing. The type and severity of symptoms can vary depending on the exact size and location of the deleted genetic material.
Fraser-Jequier-Chen syndrome: A very rare disorder characterized by a cleft epiglottis and larynx, extra fingers and toes and kidney, pancreatic and bone abnormalities. The internal organs are also located on the opposite side of the body to normal (situs inversus totalis).
Genu varum: The presence of bowed legs - knees are apart and ankles are together while standing. Causes of the anomaly include certain intrauterine positions, rickets and various bone disorders.
Gnathodiaphyseal dysplasia: A rare genetic disorder affecting the skeleton and characterized by fragile bones, bowed long bones and recurring infections of the jaw bone.
Hypochondroplasia: A rare genetic disorder characterized by short stature which becomes more obvious during and after childhood.
Hypophosphatemia, Familial: An inherited disorder involving low blood phosphate levels due to problems with the transport of phosphate and problems with vitamin D metabolism. Vitamin D and phosphates are not properly absorbed from the kidneys which can lead to bone problems if not treated.
Hypophosphatemic rickets: A rare genetic type of rickets involving defective phosphate transport and vitamin D metabolism in the kidneys. Poor calcium absorption from the intestines leads to bone softening.
Lower limb conditions: Any medical condition affecting the lower limbs, i.e. the legs, knees, feet, etc..
Maroteaux-Verloes-Stanescu syndrome: A very rare syndrome where abnormal bone development starts early in life and is fairly severe but after a few years, the bones return to almost normal. Adult height is nearly normal and bowed limbs usually straighten.
Oncogenic osteomalacia: A rare type of cancer (mesenchymal) that results in osteomalacia or rickets. Osteomalacia and rickets normally occurs as a consequence of a diet deprived of vitamin D. The tumor can occur in bone or soft tissue. The removal of the tumor alleviates the osteomalacia.
Osteogenesis imperfecta type IV: A rare genetic connective tissue disorder characterized by fragile bones and blue sclerae. The osteoporosis tends to be moderate and there is generally no joint hyperextensibility.
Osteogenesis imperfecta, type 1A: A rare genetic connective tissue disorder characterized by fragile bones and hyperextensible joints - a type of osteogenesis imperfecta I where the teeth are opalescent and blue sclerae may be absent.
Osteogenesis imperfecta, type 1B: A rare genetic connective tissue disorder characterized by fragile bones and hyperextensible joints - a milder form of osteogenesis imperfecta I where the teeth are normal and blue sclerae may be absent.
Osteogenesis imperfecta, type 4: A rare genetic connective tissue disorder characterized by fragile bones and blue sclerae - a form of OI involving moderate osteoporosis and no joint hyperextensibility.
Parastremmatic dwarfism: A rare disorder characterized by severe dwarfism, kyphoscoliosis, contractures of the large joints and twisted and bowed limb bones.
Potter syndrome: A term that describes the physical appearance that occurs when kidney disease results in a reduced volume of amniotic fluid.