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Diseases » Bone conditions » Glossary
 

Glossary for Bone conditions

  • ACPS III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
  • ADULT syndrome: A rare syndrome characterized by nail abnormalities, abnormal teeth development, tear duct obstruction, pigmentation anomalies and hand and foot abnormalities.
  • ATRUS syndrome: A rare syndrome characterized by fusion of the forearm bones near the elbow and a blood disorder.
  • Aarskog Syndrome: A rare genetic condition characterized by facial, hand, genital and growth abnormalities.
  • Aarskog-Ose-Pande syndrome: A rare disorder involving lipodystrophy mainly in the face and buttocks as well as sparse hair, retarded bone age and minor face and eye anomalies. It is considered a variant of SHORT syndrome which tends to also include increased range of joint motion and more extensive lipodystrophy.
  • Aase Smith syndrome: A rare hereditary syndrome characterized by deformities such as cleft palate, joint contractures and hypoplastic anemia.
  • Aase Syndrome: A genetic condition which results in anaemia and some skeletal and joint deformities
  • Aase syndrome 2: A rare genetic disorder characterized by blood abnormalities and thumb structure defects.
  • Aase-Smith I syndrome: A very rare hereditary syndrome characterized by deformities such as joint contractures, anemia, hydrocephalus and cleft palate.
  • Abderhalden-Kaufmann-Lignac syndrome: A rare inherited childhood disorder involving deposits of cystine crystals in various parts of the body, especially the conjunctiva and cornea.
  • Absence of tibia: The congenital absence of the tibial bone which is the shin bone. One or both shin bones may be missing.
  • Absence of tibia with polydactyly: The congenital absence of the tibial bone which is the shin bone as well as the presence of extra fingers.
  • Absent patella: A rare genetic malformation where the kneecap is absent or reduced.
  • Absent patellae -- scrotal hypoplasia -- renal anomalies -- facial dysmorphism -- mental retardation: A rare syndrome characterized by absent kneecaps, underdeveloped scrotum, kidney anomalies, unusual facial appearance and mental retardation.
  • Acalvaria: A rare congenital condition where the skull cap is missing but the rest of the face and base of the skull is normal. The skin of the scalp simply covers the brain with no protective skull bone under it.
  • Accessory navicular bone: An abnormal bone that develops in the arch in the middle of the foot. Often there are no symptoms but if the bone is large it may rub against shoes and cause problems.
  • Achalasia microcephaly: A very rare syndrome characterized primarily by a small head and achalasia which involves esophageal problems such as enlargement.
  • Achard syndrome: An inherited connective tissue disorder characterized primarily by a short head, long, slender bones, recessed lower jaw and loose hand and foot joints.
  • Acheiropodia: A rare birth defect where infants are born without hands or feet.
  • Achondrogenesis: A group of disorders characterized by abnormal bone and cartilage development.
  • Achondrogenesis type 1A: A rare genetic disorder characterized by abnormal cartilage formation and growth of bones. Type 1A differs from other types by the origin of the genetic defect. Type 1A involves abnormal cartilage-forming cells (chondrocytes) whereas type 1B involves an abnormal cartilage matrix. Type 1B is the most severe disorder.
  • Achondrogenesis type 1A and 1B: A rare lethal genetic disorder characterized by a low nasal bridge, very short limbs and incomplete bone formation of lower spine.
  • Achondrogenesis type 1B: A rare lethal genetic disorder characterized by a low nasal bridge, very short limbs and incomplete bone formation of lower spine.
  • Achondrogenesis type 2: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death.
  • Achondrogenesis, Langer-Saldino Type: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death.
  • Achondrogenesis, type 3: Severely abnormal bone development which invariably results in death before or soon after birth. Type III may actually be a part of achondrogenesis type II.
  • Achondrogenesis, type 4: A rare genetic disorder characterized by very small stature, abnormal bone formation and early death. It has been designated as a mild form of Langer-Saldino achondrogenesis.
  • Achondroplasia: A disorder characterized by problems with bone growth.
  • Achondroplasia regional -- dysplasia abdominal muscle: A rare syndrome characterized mainly by abnormal bone development of the ilium, ribs and abdominal muscles. The abdominal muscles tend to become more develope with increasing age.
  • Acquired Acroosteolysis, phalangeal type: A medical term for the slowly progressive destruction of the distal end of bones in the hands and feet. The condition may be inherited or may be acquired in occupations involving polyvinylcholoride plastic material.
  • Acral dysostosis -- dyserythropoiesis: A rare disorder characterized by hand and foot defects as well as a congenital form of anemia characterized by the production of abnormal red blood cells.
  • Acro coxo mesomelic dysplasia: A rare inherited form of dwarfism characterized mainly by shortening of the middle and end parts of the limbs.
  • Acro-pectoro-renal field defect: A very rare genetic syndrome characterized by abnormalities of the genital and urinary systems as well as the absence of chest muscles at birth.
  • Acro-reno-ocular syndrome: A disorder characterized by eye abnormalities, kidney defects and abnormalities of the arm and hand bones.
  • Acrocallosal Syndrome (Schinzel Type): A rare condition characterized by absence of portion of the brain (corpus callosum), mental deficiency, duplicated toes, mental deficiency and other abnormalities.
  • Acrocallosal syndrome: A rare genetic disorder characterized by underdeveloped or absent corpus callosum of brain, duplication of thumb or big toe and extra fingers or toes.
  • Acrocapitofemoral dysplasia: A rare inherited disorder characterized mainly by short limbs, dwarfism and cone-shaped epiphyses mainly in the hands and hips.
  • Acrocephalopolydactyly: A rare genetic condition characterized by limb abnormalities, extra digits and hydrocephalus. Other additional symptoms are variably present.
  • Acrocephalopolydactyly -- Cardiac Disease -- Ear, Skin and Lower Limb Defects: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
  • Acrocephalopolydactyly II: A rare genetic disorder characterized by head, hand and genital anomalies as well as mental retardation.
  • Acrocephalopolysyndactyly type III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
  • Acrocephalopolysyndactyly, type 2 (ACPS 2): A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
  • Acrocephalosyndactyly: A group of inherited disorders characterized by abnormalities involving the skull, face, hands and feet. Apert, Pfeiffer and Crouzon syndrome are examples of various types of the disorder.
  • Acrocephalosyndactyly II: A rare inherited disorder characterized primarily by premature closure of skull bones, fusion of fingers and toes and eye and face abnormalities.
  • Acrocephalosyndactyly Syndrome type 5: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
  • Acrocephalosyndactyly type 3 (ACPS 3): A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include brachycephaly, ear deformities as well as craniofacial, finger and bone abnormalities.
  • Acrocephalosyndactyly type 5 (ACPS 5): A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
  • Acrodysplasia scoliosis: A rare inherited genetic disorder characterized by short fingers and toes, scoliosis and other spine anomalies.
  • Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia: A rare inherited disorder characterized by short stature, underdeveloped calf bones and abnormalities of the hand and foot bones.
  • Acrofacial dysostosis -- ambiguous genitalia: A rare disorder characterized mainly by ambiguous genitals and abnormal development of bones in the face, jaw, hands and feet.
  • Acrofacial dysostosis Catania form: One of a group of disorders characterized by defective limb and facial development. The Catania form is very rare.
  • Acrofacial dysostosis Preis type: One of a group of disorders characterized by defective limb and facial development. The Preis type is very rare and the range and severity of symptoms is variable.
  • Acrofacial dysostosis Rodriguez type: One of a group of disorders characterized by defective limb and facial development. The Rodriguez type is very rare and primarily involves severe limb and organ malformations.
  • Acrofacial dysostosis atypical postaxial: A rare genetic disorder characterized by absence of some fingers and toes and characteristic facial features.
  • Acrofacial dysostosis autosomal recessive: A rare inherited disorder characterized mainly by facial, hand and foot anomalies. The disorder resembles Nager syndrome.
  • Acrofacial dysostosis postaxial, atypical: A rare disorder characterized by an unusual facial appearance, short stature and hand and foot bone anomalies. The disorder may be related to the fact that the infants were born to mothers with diabetes.
  • Acrofacial dysostosis, Nager type: A rare genetic disorder characterized by underdeveloped thumbs, forearm and cheekbones as well as ear defects.
  • Acrofacial dysostosis, Palagonia type: One of a group of disorders characterized by defective limb and facial development. The Palagonia type is very rare and the symptoms are relatively mild.
  • Acrofacial dysostosis, Weyers type: A rare disorder characterized by facial abnormalities and extra digits, nail abnormalities and short limbs.
  • Acrofrontofacionasal dysostosis syndrome: A very rare syndrome characterized by abnormalities of the bones of the skeleton as well as mental retardation. Various facial, eye and urogenital anomalies are also present.
  • Acromesomelic dysplasia: A rare genetic progressive skeletal disorder characterized by short limbs, a large head and lower thoracic kyphosis.
  • Acromesomelic dysplasia Brahimi Bacha type: A very rare genetic malformation syndrome characterized primarily by developmental abnormalities of the face and skeletal bones.
  • Acromesomelic dysplasia Campailla Martinelli type: A form of dwarfism where the main shortening occurs in the lower legs and arms.
  • Acromesomelic dysplasia Hunter Thompson type: A rare genetic syndrome characterized by various severe developmental abnormalities of the skeletal bones.
  • Acromesomelic dysplasia, Maroteaux type: A rare genetic syndrome characterized by various developmental abnormalities of the skeletal bones and facial anomalies.
  • Acromicric dysplasia: A rare genetic syndrome characterized by various severe developmental abnormalities of the skeletal bones and facial anomalies.
  • Acroosteolysis: A medical term for the slowly progressive destruction of the distal end of bones in the hands and feet. The condition may be inherited or may be acquired in occupations involving polyvinylcholoride plastic material.
  • Acroosteolysis dominant type: A rare inherited connective tissue disorder characterized by breakdown of bone especially in the ends of the fingers and toes.
  • Acroosteolysis neurogenic: A very rare inherited condition characterized mainly by the loss of all sensations - the lose the ability to feel pain, temperature and touch. The loss of sensation generally starts at the toes and fingers and spreads up the limbs and the trunk may also be involved in some cases.
  • Acroosteolysis, phalangeal type: A medical term for the slowly progressive destruction of the distal end of bones in the hands and feet. The condition may be inherited or may be acquired in occupations involving polyvinylcholoride plastic material.
  • Acropectoral syndrome: A rare disorder characterized by extra fingers and toes, fusion of fingers and toes and anomalies involving the abdominal and chest wall.
  • Acropectorovertebral dysplasia: A rare inherited genetic disorder characterized by abnormalities involving the fingers, toes, palate and chest bones.
  • Acrorenal mandibular syndrome: A very rare condition characterized by a split hand or foot deformity, kidney abnormalities and underdeveloped lower jaw.
  • Acrorenal syndrome: A rare lethal syndrome characterized limb anomalies and kidney malformations.
  • Acrorenal syndrome recessive: A rare, recessively inherited disorder characterized by the association of kidney and hand and foot abnormalities.
  • Acrosphenosyndactylia: A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused together.
  • Adamantinoma: Adamantinoma is a rare tumor. The tumor occurs almost exclusively in the long bones; tumors in the tibia account for more than 80% of cases. The diaphyseal region is the area most commonly affected.
  • Adams-Oliver Syndrome: A very rare inherited disorder characterized by scalp, skull and limb abnormalities. The range and severity of the symptoms can vary greatly from mild to severe.
  • Adolescent idiopathic scoliosis: A condition which occurs to an adolescent without any known cause resulting in scoliosis of the spine
  • Adult hypophosphatasia: An rare inherited bone disorder due to an inborn error of metabolism characterized by a deficiency of alkaline phosphate. The condition involves the early loss of primary teeth and childhood rickets followed by a reasonable health until mid-adulthood when dental and skeletal abnormalities again become prevalent.
  • Agammaglobulinemia -- microcephaly -- craniosynostosis -- severe dermatitis: A rare disorder characterized by a small head, agammaglobuliemia and severe dermatitis.
  • Agammaglobulinemia, microcephaly, and severe dermatitis: A rare disorder characterized by a small head, agammaglobuliemia and severe dermatitis.
  • Aglossia-Adactylia syndrome: A rare syndrome characterized mainly by the association of a missing tongue with missing fingers or toes. Other malformations are also variably present.
  • Aglossia-Hypoactylia syndrome: A rare syndrome characterized mainly by the association of a missing tongue with missing fingers or toes. Other malformations are also variably present.
  • Akaba-Hayasaka syndrome: A very rare syndrome characterized mainly by a prominent forehead, cloudy corneas, low nasal bridge, underdeveloped chest and short limbs.
  • Al Awadi syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis.
  • Al Awadi-Raas-Rothschild syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis. The exact type and severity of symptoms is variable. Most cases appear to occur in cases where the parents were related.
  • Al Gazali -- Nair syndrome: A very rare syndrome characterized by bone abnormalities, eye problems, seizures and developmental delay. The reported cases involved related parents.
  • Al Gazali Sabrinathan Nair syndrome: A very rare syndrome characterized by bone and eye problems, seizures and mental retardation.
  • Albers-Schonberg disease -- Adult benign dominant form: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The adult benign form is associated with a normal life expectancy and is often asymptomatic.
  • Albers-Schonberg disease -- intermediate form: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The intermediate form is more severe than the adult form but less severe than the infantile form. Life expectancy is usually normal.
  • Albers-Schonberg disease -- malignant recessive form: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The malignant infantile form is the most severe form of this disorder and death usually occurs in the first decade of life.
  • Albright like syndrome: A rare disorder characterized by mental retardation, short stature and finger and toe abnormalities.
  • Albright's hereditary osteodystrophy: A rare genetic disorder where the body fails to recognize and respond to the parathyroid hormone. The parathyroid hormone is involved in controlling the blood levels of calcium and phosphate.
  • Allain Babin Demarquez syndrome: A rare syndrome characterized by premature fusion of skullbones, abnormal development of skeletal bones and hypertension.
  • Allison atrophy: Wasting and loss of minerals in bones that are not used for periods of time. Astronauts have to ensure they do adequate exercise to prevent this condition.
  • Alsing syndrome: A rare syndrome characterized mainly by kidney problems, skeletal abnormalities and a hole in the coloboma of the eye.
  • Alveolar Bone Loss: Loss of bone tissue in the thickened bone ridge that holds the tooth sockets. Gum disease is the main cause of alveolar bone loss.
  • Amelia, autosomal recessive: A rare disorder characterized by the complete absence of the arms and a partial absence of the legs. The disorder has been described in the 3 fetuses of one family.
  • Ampola syndrome: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
  • Amyoplasia congenital disruptive sequence: A rare genetic disorder characterized by congenital contractures of two or more different joints.
  • Anauxetic dysplasia: A rare disorder characterized by abnormal skeletal and spinal development.
  • Aneurysmal bone cysts: A benign tumor-like lump in the bone. Most frequently occurs in the spine and longer bones of the body.
  • Angel shaped phalangoepiphyseal dysplasia: A rare genetic bone development disorder characterized mainly by an unusual angel-shaped ends of some bones (fingers and hips) which leads to early osteoarthritis.
  • Angel-Shaped Phalanges: A medical term used to describe bones in the fingers or toes which have an abnormal angel-shaped appearance. The anomaly may be associated with rare conditions such as brachyphalangy type C and ASPED.
  • Angio-osteohypotrophic syndrome: A rare disorder characterized by malformation of the peripheral (usually veins) blood vessels and skeletal abnormalities. The malformed blood vessels cause localized soft tissue swellings and if veins in bones are affected, the bone may degenerate due to an insufficient blood supply. Usually the hands are affected.
  • Aniridia -- absent patella: A rare genetic condition characterized by an abnormal or missing kneecap as well as the absence of the iris of the eye.
  • Ankle Osteoarthritis: A form of arthritis where the cartilage which cushions the bones in the ankle joint as they move against each other, becomes progressively degraded and damaged. This causes problems such as pain, stiffness and impaired movement. Pain is not present in all cases however, with some patients imply suffering joint stiffness. Primary osteoarthritis occurs as the person ages but results from repetitive use and/or high mechanical stress on the joint. It is not a direct result of the aging process. Secondary osteoarthritis is the result of such things as injury to the joint, joint infection, obesity, ligament damage, joint overuse, hormonal problems, pregnancy and various other conditions. Family history seem to play a factor in developing the condition.
  • Ankle fracture: Fracture of bones in the ankle.
  • Anonychia -- ectrodactyly: A very rare syndrome characterized by the absence of nails and the absence of all or part of one or more fingers or toes (ectrodactyly).
  • Anonychia -- microcephaly: A very rare syndrome characterized by the absence of nails and a small head.
  • Anonychia onychodystrophy brachydactyly type b: A rare, dominantly inherited disorder characterized abnormal or absent nails, permanently flexed fingers and a broad, finger-like thumb.
  • Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly: A rare, dominantly inherited disorder characterized abnormal or absent nails, missing fingers, permanently flexed fingers and a broad, finger-like thumb.
  • Anophthalmia -- megalocornea -- cardiopathy -- skeletal anomalies: A rare genetic syndrome characterized by absent or very small eyes, large corneas, congenital heart defects and skeletal abnormalities.
  • Anophthalmia -- microcephaly -- hypogonadism: A rare syndrome characterized mainly by absent eyes, a small head and hypogonadism.
  • Antley-Bixler Syndrome: A rare genetic disorder characterized by premature closing of skull bones, choanal atresia and craniofacial and limb abnormalities.
  • Apert syndrome: A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused together.
  • Aphalangia -- syndactyly -- microcephaly: A very rare syndrome characterized by the absence of one or more bones of the fingers and toes, a small head and fusion of fingers.
  • Aphalangy -- hemivertebrae -- urogenital-intestinal dysgenesis: A rare congenital disorder characterized by missing fingers and toes, abnormal vertebrae and various malformations of the organs.
  • Aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits and nails: A rare syndrome characterized by the underdevelopment or absence of the pelvis, thigh bone, shin bone and ulna (forearm bone) as well as digital and nail abnormalities.
  • Arachnodactyly -- Intellectual Deficit -- Dysmorphism: A rare condition characterized by long thin digits, reduced intelligence characteristic facial appearance.
  • Arachnodactyly -- mental retardation -- dysmorphism: A very rare syndrome characterized by mental retardation, unusual facial features and long, thin fingers and toes.
  • Arm fracture: Fracture of bones in the arm.
  • Armendares syndrome: A rare syndrome characterized mainly by retarded growth and facial, skull and eye abnormalities.
  • Arnold-Chiari Malformation (Type 1): A rare malformation where the base of the brain enters into the upper spinal canal.
  • Arnold-Chiari Syndrome: Malformation of the brain which leads to herniation of the cerebellar tonsils and the medulla into the foramen magnum.
  • Arnold-Chiari malformation type 2: A rare malformation where the base of the brain enters into the upper spinal canal. The extent of the deformity is greater in type 2 than type 1 and hence the symptoms are more severe and are often associated with a myelomeningocele (opening of the spine and spinal cord).
  • Arnold-Chiari malformation type 3: An extremely rare malformation where the base of the brain enters into the upper spinal canal. Type 3 involves the herniation of brain or brain stem tissue out of the back of the neck or head. The condition generally has a poor prognosis.
  • Arnold-Chiari malformation type 4: Arnold-Chiari malformation is a rare malformation where the base of the brain enters into the upper spinal canal. Type 4 actually involves a lack of development of a portion of the base of the brain (cerebellum). The prognosis is very poor with death often occurring during infancy.
  • Arterial occlusive disease, progressive -- hypertension -- heart defects -- bone fragility -- brachysyndactyly: A rare syndrome characterized by narrowing or blockage of a number of arteries (in the kidneys, abdomen, brain and heart) as well as fragile bones, heart defects and finger abnormalities. Fractures and high blood pressure often start during the first years of life.
  • Arthrogryposis, distal, type 2A: A form of distal arthrogryposis (joint contractures in ends of limbs) that involves additional symptoms such as facial and spinal anomalies.
  • Arthrogryposis, distal, type 2B: A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities.
  • Aseptic osteitis (generic term): A non-infectious inflammation of the bone. Any bone may be affected
  • Ashley syndrome: A rare syndrome characterized mainly by an unusual facial appearance and muscle and skeletal abnormalities.
  • Asphyxiating Thoracic Dystrophy: A rare genetic disorder characterized by short limbs, underdeveloped iliac wings and a narrow rigid thoracic cage that often results in asphyxiation.
  • Asphyxiating Thoracic Dystrophy 2: Asphyxiating thoracic dystrophy is rare syndrome characterized mainly by abnormal development of the ribcage The ribcage is restricted to the point where breathing is impaired and death during infancy is a common occurrence. Type 2 is linked to a defect on chromosome 15q13.
  • Asphyxiating Thoracic Dystrophy 3: Asphyxiating thoracic dystrophy is rare syndrome characterized mainly by abnormal development of the ribcage The ribcage is restricted to the point where breathing is impaired and death during infancy is a common occurrence. Type 3 is linked to a defect on chromosome 11q13.5.
  • Asternia: Congenital absence of the sternum (breastbone).
  • Asternia with Cardiac, Diaphragmatic, and Abdominal defects: A rare disorder characterized by the congenital absence of the sternum (bone that joins the two sides of the ribcage) as well as defects involving the heart, diaphragm and the abdomen.
  • Astley-Kendall syndrome: A very rare syndrome involving abnormal skeletal development and resulting in short limbs, fragile bones and cartilage abnormalities. The condition generally results in stillbirth or death during early infancy.
  • Atelosteogenesis Type III: A very rare inherited skeletal ossification disorder. Unlike types I and II, survival past infancy is possible in type III.
  • Atelosteogenesis, type 1: A rare genetic disorder characterized by bone formation abnormalities, short stature and early death.
  • Atelosteogenesis, type 2: A very rare inherited skeletal disorder involving the bone and cartilage and resulting in various bone abnormalities.
  • Atlanto-Axial Fusion: A congenital anomaly where the first neck vertebrae is fused to the skull.
  • Aural atresia -- multiple congenital anomalies -- mental retardation: A rare syndrome characterized by a number of malformations as well as mental retardation.
  • Auralcephalosyndactyly: A very rare syndrome characterized by ear abnormalities, premature fusion of skull bones and syndactyly (fusion of digits).
  • Auriculoosteodysplasia: A rare disorder characterized mainly by abnormal ears and multiple bone development anomalies.
  • Autoimmune Myelopathy: A disturbance functionally or pathological change in the spinal cord
  • Autosomal Recessive Tetra-Amelia: A rare disorder characterized by the absence of all four extremities as well as skeletal, nervous system, craniofacial and other abnormalities. The condition is causes death before or soon after birth.
  • Avascular necrosis: Bone death from lack of circulation.
  • Avascular necrosis of femoral head, familial form: A familial hip joint disorder where bone growth abnormalities caused by an interrupted blood supply to the head of the femoral bone results in it's degeneration and deformity. When the body creates a new blood supply, new healthy bone can be formed.
  • Axenfeld-Rieger anomaly -- hydrocephaly -- skeletal abnormalities: A rare syndrome characterized mainly by skeletal abnormalities, excess fluid inside the skull and eye anomalies.
  • Axial mesodermal dysplasia spectrum: A variable range of defects that occur during fetal development. The defect occurs at a cellular level and affects the way various parts of the body develop.
  • Axial osteomalacia: A rare bone disorder where an enzyme defect affects bone formation that primarily affects the ribs and iliac crest (hip bone).
  • Axial osteosclerosis: A rare bone abnormality involving patches of increased bone density which tend to occur in the spine, pelvis and the ball part of the hip joint.
  • Baby rattle pelvic dysplasia: A lethal bone development disorder.
  • Baker-Vinters syndrome: A very rare syndrome characterized by premature fusion of skull bones, hydrocephalus and abnormal development of the channel or duct in the middle of the brain that connects the third and fourth ventricles.
  • Ballard syndrome: A rare condition characterized by enlarged liver and spleen and fractures that occur in areas of weakened bone.
  • Baller-Gerold Syndrome: A rare syndrome characterized by premature fusion of skull bones and radial defects. Variable other abnormalities may be present.
  • Banki syndrome: A rare disorder characterized by abnormal curvature of fingers, thin middle sections of long bones, fusion of certain wrist bones (lunate and cuneiform bones) and other hand abnormalities.
  • Baraitser burn fixen syndrome: A rare syndrome characterized mainly by skeletal abnormalities, a skin disorder and an expressionless face.
  • Baraitser-Rodeck-Garner syndrome: A very rare syndrome characterized primarily by mental retardation, premature fusion of skull bones, kidney anomalies, seizures and facial anomalies.
  • Barnicoat-Baraitser syndrome: A rare syndrome characterized mainly by extra digits and excessive growth resulting in an increased birth weight and size.
  • Barrel chest: Increased anterior-posterior diameter of the chest often seen in emphysema.
  • Barrow-Fitzsimmons Syndrome: A rare (only one reported case) inherited condition characterized by short limbs, an unusual facial appearance and congenital heart disease.
  • Bartenwerfer syndrome: A rare disorder characterized by dwarfism and facial and skeletal abnormalities. The disorder is a variant of Morquio disease.
  • Bartsocas Papa syndrome: A rare condition characterized by webbing of skin as well as various other physical and mental abnormalities.
  • Basal cell nevus anodontia abnormal bone mineralization: A rare syndrome characterized mainly by the association of basal cell nevus, absence of all teeth on one side of the mouth and abnormal bone mineralization.
  • Basilar impression primary: A congenital bone abnormality where the skull and vertebrae meet which can compress some of the brain structures and result in neurological abnormalities. The defect is often associated with other vertebral abnormalities. In severe cases, the cerebrospinal fluid flow may be obstructed which can cause fluid to build up inside the skull (hydrocephalus).
  • Battaglia Neri syndrome: A very rare syndrome characterized by mental retardation, small head, epilepsy, coarse facial features and skeletal anomalies. Only two reported cases of this syndrome.
  • Battle's sign: Bruising behind the ears indicating a base of skull fracture.
  • Bazopoulou-Kyrkanidou syndrome: A very rare syndrome characterized primarily by skull, facial and skeletal and gum abnormalities.
  • Beals syndrome: A rare genetic connective tissue disorder characterized by joint contractures, arachnodactyly and a crumpled appearing ear.
  • Beardwell syndrome: A very rare syndrome characterized primarily by abnormal calcium deposits along the vertebrae as well as the development of calluses on the palms and soles.
  • Beare-Stevenson cutis gyrata syndrome: A rare genetic disorder involving skin and skull abnormalities due to the premature fusion of skull bones.
  • Beare-Stevenson cutis gyrate syndrome:
  • Beemer-Ertbruggen syndrome: A rare lethal syndrome characterized primarily by hydrocephalus, heart malformations, and increased bone density. Only a couple of cases have been reported.
  • Beemer-Langer syndrome: A very rare inherited condition characterized by a number of congenital abnormalities and death generally occurs during early infancy.
  • Bellini-Chiumello-Rinoldi syndrome: A very rare syndrome characterized primarily by mental retardation, short stature and unusual shaped ends of long bones.
  • Bencze syndrome: A rare inherited condition characterized mainly by abnormal, asymmetrical facial bone growth and eye problems in some cases.
  • Benjamin syndrome: A rare disorder characterized mainly by anemia, bone abnormalities and mental and growth retardation.
  • Bennett fracture: A fracture that occurs at the base of the thumb. The fracture occurs in such a way as to dislocate the thumb joint.
  • Beradinelli-Seip congenital lipodystrophy:
  • Berk-Tabatznik syndrome: A rare condition characterized by eye and skeletal problems.
  • Berndorfer syndrome: A rare syndrome characterized mainly by a cleft palate, harelip and cleft hands and feet.
  • Bessel-Hagen disease: A dominantly inherited disorder characterized by growth of multiple tumors made up of cartilage on the bones.
  • Beveridge syndrome: A rare syndrome characterized by a large head, skeletal and visceral problems and patches of reduced skin pigmentation.
  • Biemond Syndrome: A rare genetic disorder characterized by nystagmus, cerebellar ataxia and short digits.
  • Biemond syndrome type 1: A rare inherited condition characterized by mental retardation, finger and toe abnormalities, obesity and eye problems.
  • Biemond syndrome type 2: A rare inherited condition characterized by mental retardation, obesity, polydactyly and underdeveloped genitals.
  • Biemond syndrome type 3: A rare inherited condition characterized by the inability to feel pain as well as other anomalies.
  • Billet-Bear syndrome: A very rare syndrome characterized mainly by the complete or partial absence of the kidneys as well as partial duplication of the lower leg.
  • Bird-headed dwarfism with progressive ataxia, Insulin-resistant diabetes, goiter and primary gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
  • Blegvad-Haxthausen syndrome: A rare syndrome characterized by skin wasting, zonular cataract, blue eyes and osteogenesis imperfecta.
  • Blepharo facio skeletal syndrome: A very rare syndrome characterized mainly by eyelid, facial and skeletal abnormalities.
  • Blepharophimosis, ptosis, epicanthus inversus: A rare genetic disorder characterized by inner canthal folds, lateral displacement of inner canthi and drooping upper eyelid.
  • Blepharophimosis, ptosis, polythelia and brachydactyly: A rare syndrome characterized mainly by droopy eyelids, short digits, blepharophimosis and accessory nipples (polythelia).
  • Blepharoptosis -- cleft palate -- ectrodactyly -- dental anomalies: A rare genetic disorder characterized primarily by dental symptoms, opening in the roof of the mouth (cleft palate) and missing fingers giving the hands a claw like appearance.
  • Blethen-Wenick-Hawkins syndrome: A rare syndrome characterized mainly by short stature, skeletal abnormalities and reduced pituitary gland functioning.
  • Blomstrand syndrome: A rare lethal congenital condition characterized by abnormal bone development.
  • Bloom Syndrome: A rare genetic inherited genetic disorder which mainly affects Ashkenazic Jewish people and is characterized by short stature, malar hypoplasia, and a telangiectatic erythema of the face.
  • 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.
  • Bone Marrow Conditions: Medical conditions affecting the bone marrow
  • Bone cancer: Malignancy that occurs in the bone
  • Bone dysplasia -- corpus callosum agenesis: A very rare syndrome characterized mainly by abnormal brain development and bone growth abnormalities.
  • Bone dysplasia Moore type: A rare disorder characterized by abnormally bowed long bones. The bowed bones may be symmetrical or asymmetrical. The condition has only been observed in two siblings and is believed to be a previously undescribed disorder.
  • Bone dysplasia with medullary fibrosarcoma: A rare inherited bone disorder characterized by aggressive bone tumors and defective bone development. The tumors metastasized readily.
  • Bone dysplasia, lethal, Holmgren type: A rare lethal bone malformation syndrome.
  • Bone fragility, craniosynostosis, proptosis, hydrocephalus: A very rare genetic disorder characterized by fragile bones, premature closure of skull bones, protruding eyeballs and fluid buildup in the skull.
  • Bone infarct: A relatively uncommon condition where some bone tissue dies due to a lack of sufficient blood supply to the affected tissue for any reason. An interruption in the blood supply can result from such things as emboli, thrombi, infection, diabetes, kidney transplant, hemophilia, increased steroid levels, immunosuppressant use and bone trauma. Often there are no symptoms unless significant areas of bone are involved and usually there are no symptoms in the early stages. Radiological tests will not necessarily reveal a bone infarct.
  • Bone pain: Bone pain or tenderness is aching or other discomfort in one or more bones.
  • Bone pain, periodic: Periods of bone pain which occurred in the shafts of long bones. The condition was observed in many members of a number of generations in one family.
  • Boomerang dysplasia: A rare lethal disorder characterized by bone abnormalities (lack of bone ossification and missing bones) and a characteristic face.
  • Borrone-Di Rocco-Crovato syndrome: A rare progressive syndrome characterized by skin, heart and skeletal defects. Only several reported cases of the condition.
  • Bowed legs: Also known as genu varum. It is a deformity marked by medial angulation of the leg in relation to the thigh, an outward bowing of the legs, giving the appearance of a bow
  • Bowing of Long Bones, Asymmetrical and Symmetrical: A very rare syndrome characterized by bowed long bones, unusual skull appearance and wide-set eyes.
  • Bowing of legs, anterior, with dwarfism: A very rare syndrome characterized primarily by dwarfism and bowed lower leg bones. Only one or two reported cases of the condition.
  • 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.
  • Bowing, congenital, short bones: A rare syndrome characterized mainly by broad, bowed bones affecting mainly the thigh bone and upper arm bones.
  • Brachio-Skeletal-Genital Syndrome: A very rare syndrome described in three siblings of related parents. The offspring had skull, skeletal and genital abnormalities.
  • Brachioskeletogenital syndrome: A rare syndrome characterized by
  • Brachmann-De Lange Syndrome: A rare congenital disorder characterized by very small stature, synophrys, thin downturning upper lip and micromelia.
  • Brachydactylous dwarfism, Mseleni type: A very rare syndrome characterized primarily by progressive joint disease, short stature and short fingers and toes. The joint disease affects mainly the hips, knees, ankles and spine. The condition can eventually lead to disability and hip and/or knee replacements in serious cases.
  • Brachydactyly -- absence of distal phalanges: A rare hand malformation involving short digits and the absence of the end bones in the digits.
  • Brachydactyly -- anonychia: A rare syndrome characterized by short toes and nail abnormalities.
  • Brachydactyly -- arterial hypertension: A rare syndrome characterized by the association of hypertension with short digits. Premature death (by the fifth decade) due to stroke occurs in untreated patients.
  • Brachydactyly -- elbow, wrist dysplasia: A very rare syndrome characterized by elbow and wrist abnormalities and short end bones of fingers.
  • Brachydactyly -- mesomelia -- mental retardation -- heart defects: A rare genetic disorder characterized by mental retardation, heart defects, short digits and short limbs.
  • Brachydactyly -- scoliosis -- carpal fusion: A rare genetic disorder characterized by short fingers and toes, scoliosis (curved spine) and fused hand bones.
  • Brachydactyly -- tibial hypoplasia: A rare syndrome characterized by short digits and an underdeveloped or absent shin bone.
  • Brachydactyly nystagmus cerebellar ataxia: A very rare syndrome characterized mainly by short digits, nystagmus and cerebellar ataxia.
  • Brachydactyly preaxial with hallux varus and thumb abduction: A rare digital anomaly characterized by short thumbs and big toes which are also abducted (angled away from the foot or hand).
  • Brachydactyly type A1: A rare inherited malformation characterized primarily by shortness or absence of middle bones of fingers and toes.
  • Brachydactyly type A2: A very rare digital anomaly characterized by shortened middle bones of the second finger (index finger) and second toe. These fingers and toes are also often angled abnormally.
  • Brachydactyly type A3: A hand malformation characterized by a short middle bone of the fifth finger and this finger usually bends towards the fourth finger.
  • Brachydactyly type A6: A rare limb malformation disorder characterized by underdeveloped or absent middle bones in fingers and toes as well as shortened limbs and short stature.
  • Brachydactyly type B: A form of finger deformity characterized by absent or underdeveloped end and middle bones of fingers and toes as well as absent or underdeveloped nails.
  • Brachydactyly type C: A rare malformation characterized primarily by variable deformities involving the two sections closest to the hand of the second and third fingers.
  • Brachydactyly type D: A digital defect where the ends of the thumbs and toes are abnormally short and broad.
  • Brachydactyly type E: A rare condition characterized by short metacarpals and metatarsals - hand bones that lead to the fingers.
  • Brachydactyly types B and E combined: A rare hand anomaly characterized by shortening of one or more metacarpals (hand bones) as well as an underdeveloped end bone in the little finger
  • Brachydactyly with hypertension: A very rare disease characterized by the association of hypertension with brachydactyly (abnormally short fingers and/or toes).
  • Brachydactyly, long thumb type: A rare digital anomaly characterized by short fingers and a long thumb.
  • Brachydactyly, mesomelia, mental retardation, aortic dilation, mitral valve prolapse and characteristic face: A rare syndrome characterized by short digits, short limbs, mental retardation, aortic dilation, mitral valve prolapse and a characteristic face.
  • Brachydactyly, type A5, nail dysplasia: A rare digital anomaly where the middle bones of the second to fifth fingers are missing and the nails are abnormal.
  • Brachydactyly, type B2: A rare dominantly inherited hand and foot malformation involving varying degrees of absence or underdevelopment of the ends of the fingers and toes as well as fusion of bones in the wrist and ankle.
  • Brachydactyly, type a7: A hand abnormality where involving short second digits and dislocated thumbs.
  • Brachymesomelia-renal syndrome: A rare syndrome characterized by kidney abnormalities and forearm and lower leg deformity. The condition describes a single reported case.
  • Brachymesophalangy 2 and 5: A rare genetic disorder characterized by short middle bones of the second and fifth fingers and toes.
  • Brachymetacarpalia: A medical term used to describe the shortening of one or more metacarpals which are bones that run through the palm of the hand.
  • Brachymetacarpalism: A medical term used to describe the shortening of one or more metacarpals which are bones that run through the palm of the hand.
  • Brachymetapody, anodontia, hypotrichosis, albinoidism: A rare syndrome characterized by short foot bones, total absence of teeth, reduced amount of hair and lack of skin pigmentation.
  • Brachymetatarsalia: A medical term used to describe the shortening of one or more metatarsals which are bones that run through the foot to the toes.
  • Brachymetatarsalism: A medical term used to describe the shortening of one or more metatarsals which are bones that run through the foot to the toes.
  • Brachymetatarsus IV: A rare birth defect where the fourth toe (next to the smallest toe) is abnormally short. The shortness of the toe is actually due to a short foot bone that leads to the fourth toe.
  • Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia: A rare syndrome characterized mainly by short digits, extra digits and a small or absent shin bone.
  • Brachytelephalangy, characteristic facies, Kallmann: A very rare syndrome characterized primarily by very short end bones of fingers and facial anomalies.
  • Braddock Jones Superneau syndrome: A very rare disorder characterized primarily by the premature fusion of skull bones (sagittal), the Dandy-Walker malformation and a buildup of fluid in the brain (hydrocephalus). The Dandy-Walker malformation is where a cyst develops in the back of the brain and interferes with the movement of fluid through the brain resulting in an accumulation of fluid.
  • Brailsford: A rare inherited skeletal disorder characterized by short hand and foot bones which may also be deformed. Other anomalies are also present.
  • Brain malformation -- congenital heart disease -- postaxial polydactyly: A very rare syndrome characterized mainly by a brain defect, congenital heart disease and extra fingers.
  • Branchio-skeleto-genital syndrome: A rare inherited disorder characterized by mental retardation, jaw anomalies, cleft palate, sunken chest and other abnormalities.
  • Brittle bone syndrome lethal type: A rare form of brittle bone disease caused by abnormal collagen production which results in weak bones which break easily. The condition can result in death, especially during the process of birth which can result in multiple severe fractures.
  • Broberger-Zetterstrom syndrome: A type of chronic bone abscess where a infected bone forms a pus-filled cavity. The abscess may cause no symptoms for many years.
  • Broken Collarbone: Fractured collarbone (clavicle)
  • Broken finger: Fracture of a finger bone
  • Broken foot: Fracture of one or more foot bones
  • Broken hand: Fracture of one or more bones in the hand
  • Broken jaw: Fracture of the jaw bone (mandible)
  • Broken leg: Fracture of a bone in the upper or lower leg
  • Broken neck: Fracture of the bone or bones in the cervical spine.
  • Broken nose: Fracture of the nose
  • Broken shoulder blade: Fracture of the shoulder blade bone (scapula)
  • Broken toe: Fracture of a bone in a toe
  • Bruck syndrome: A very rare syndrome characterized primarily by weak, brittle bones and abnormal knee, ankle and foot joints (congenital contractures) at birth. There are two different subtypes of the disorder, each with a different genetic defect origin.
  • Bruck syndrome 1: A very rare syndrome characterized primarily by weak, brittle bones and abnormal knee, ankle and foot joints (congenital contractures) at birth.
  • Bruck syndrome, 2: A very rare syndrome characterized primarily by limited joint extension (congenital contractures), weak fragile bones and webbed skin at elbows and knees.
  • Brugsch's syndrome: A rare syndrome characterized by small hands and feet as well as thickened skin on the hands, feet, scalp and face.
  • Brunzell syndrome: A rare recessively inherited syndrome characterized by a lack of skin fat (Seip syndrome), cystic angiomatosis of the long bones which can lead to fractures.
  • Buntinx-Lormans-Martin syndrome: A very rare syndrome characterized mainly by eye anomalies and fusion of the forearm bones.
  • Burkholderia pseudomallei: Gram negative, aerobic, motile rod shaped bacterium.
  • Buschke Ollendorff syndrome: A rare condition involving elastin abnormalities and characterized by a mottled bone appearance and yellowish skin papules
  • Buttiens-Fryns syndrome: A rare genetic disorder characterized by a small jaw, small mouth and defects involving the hands and feet.
  • C Syndrome: A rare inherited disorder characterized by a triangular-shaped head, facial anomalies, joint contractures and loose skin.
  • CAMFAK syndrome: A rare syndrome characterized by cataracts, small head, failure to thrive and spinal curvature.
  • CHILD syndrome ichthyosis: A rare genetic disorder characterized by unilateral hypomelia, underdeveloped skin and heart defects.
  • COACH syndrome: A very rare syndrome characterized by ataxia, gaps or holes in various eye structures, mental retardation, liver fibrosis and brain abnormalities.
  • COFS syndrome: A genetic disorder involving degeneration of the brain and spinal cord that starts during the fetal stage.
  • CRMO, juvenile: A rare chronic inflammatory bone disease that occurs in children. The symptoms go into periods of remission only to return. The most common sites for the inflammation are the shinbone, thighbone and collarbone with usually several sites being affected at once.
  • Calabro syndrome: A rare syndrome characterized mainly by premature fusion of skull bones, arm and leg abnormalities, small jaw, short neck and genital defects.
  • Calvarial doughnut lesions -- bone fragility: A rare disorder characterized by a number of doughnut shaped lesions on the skull which makes the skull lumpy. Weak bones resulting in fractures without trauma and dental decay are also features of this disorder.
  • Calvarial hyperostosis: A rare condition characterized by excessive calvarial bone growth.
  • Camera Costa Syndrome: Camera Costa syndrome refers to a reported case characterized by hand and finger malformations, hearing impairment and heart defect.
  • Campomelia Cumming type: A rare syndrome characterized by limb and multiple abdominal organ abnormalities. The disorder results in death before birth or soon after.
  • Campomelic Syndrome: A rare condition characterized by dwarfism due to bowed shin and thigh bones as well as various craniofacial and other skeletal anomalies.
  • Campomelic dwarfism: A rare genetic disorder characterized by bowed tibia, underdeveloped shoulder blades and a flat face.
  • Campomelic dysplasia: A rare genetic disorder characterized by bowed tibia, underdeveloped shoulder blades and a flat face.
  • Camptobrachydactyly: A rare hand and foot abnormality where the fingers and toes are unusually short and the first part of the fingers or toes are held in a fixed contracted position.
  • Camptocormism: Abnormal forward bending of the trunk that is noticeable when standing or walking but disappears when lying down. It is often associated with conditions such as dystonia and Parkinson's disease.
  • Camptodactyly -- fibrous tissue hyperplasia -- skeletal dysplasia: A rare syndrome characterized by a hand deformity and skeletal abnormalities.
  • Camptodactyly -- joint contractures and facial skeletal dysplasia: A rare genetic disorder characterized by joint contractures, drooping eyelids, spinal curvature and permanently bent fingers (camptodactyly).
  • Camptodactyly -- vertebral fusion: A rare disorder characterized mainly by the association of a permanently flexed finger (usually the little finger) and fused vertebrae.
  • Camptodactyly syndrome, Guadalajara type 1: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed fingers as well as other abnormalities such as short toes, short neck and a small head.
  • Camptodactyly syndrome, Guadalajara type 2: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed finger (camptodactyly).
  • Camptodactyly syndrome, Guadalajara type 3: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed finger (camptodactyly).
  • Camptodactyly syndrome, Guadalajara type III: A rare syndrome characterized mainly by a variety of defects including facial dysmorphism.
  • Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia: A rare syndrome characterized by a hand deformity and skeletal abnormalities.
  • Camptomelic dysplasia I: A rare condition characterized by dwarfism due to bowed shin and thigh bones.
  • Camptomelic dysplasia II: A rare condition characterized by dwarfism due to bowed shin and thigh bones which tend to be shorter and wider than normal.
  • Camptomelic syndrome: A rare inherited skeletal disorder characterized by short stature, missing ribs and other abnormalities.
  • Camurat-Engelmann disease, type 2: A rare syndrome characterized by a range of abnormalities including waddling gait, muscle weakness, knee and hip contractures, delayed puberty and leg pain.
  • Camurati Engelmann disease, type 2: A rare disorder (described in two patients) which has similar symptoms to the genetic condition called Camurati Engelmann disease but the genetic defect responsible for type 1 is not present in type 2. Type 2 has additional bone abnormalities which were noted on radiographs. Patients tend to suffer flare-ups of their condition which is accompanied by severe pain which may leave the patient incapacitated. Flare-ups can be triggered or made worse by stress, exhaustion, exercise, growth spurts, standing too long, walking too long, infection, illness, injury, surgery, cold weather and sudden changes in air pressure.
  • Camurati-Engelmann Disease: A rare genetic connective tissue disorder characterized by diaphyseal dysplasia, muscle weakness and leg pain.
  • Cantu Sanchez-Corona Garcia-cruz syndrome: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities.
  • Cantu syndrome: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities.
  • Cardiac malformation, cleft lip-palate, microcephaly and digital anomalies: A newly described syndrome characterized by heart malformations, cleft lip/palate, small head and digital anomalies.
  • Cardiocranial syndrome: A rare syndrome characterized mainly by heart and skull abnormalities.
  • Cardiomelic syndrome Stratton Koehler type: A rare syndrome characterized mainly by heart and skeletal abnormalities.
  • Carnevale-Canun-Mendoza syndrome: A rare disorder characterized by loss of bone tissue in the wrists and ankles as well as kidney problems.
  • Carnevale-Hernandez-Castillo syndrome: An extremely rare disorder characterized by missing digits or parts of digits and a thumb that has three bones like a finger instead of the normal two.
  • Carpal Fusion: A medical term for the abnormal fusion of two or more carpal bones to make a single bone. The carpal bones are the bones that make up the wrist bones.
  • Carpal Synostosis: A medical term for the abnormal fusion of two or more carpal bones to make a single bone. The carpal bones are the bones that make up the wrist bones.
  • Carpal deformity -- micrognathia -- microstomia: A very rare syndrome characterized by wrist bone defects, a small jaw and a small mouth.
  • Carpenter syndrome: A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
  • Carpotarsal osteochondromatosis: A rare disorder characterized by a painless swelling in the ankles and wrists which restricts their range of motion. The swelling is caused by abnormal growths on the wrist and ankle bones. The number of joints involved is variable.
  • 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.
  • Cartilaginous neoplasms: Tumors made up of cartilage tissue. The tumors may be benign or malignant and the symptoms will depend on the location and size of the tumors. The tumors can form on parts of the body such as the arm and leg bones or even in the pharynx. The tumors may cause no symptoms in some cases and are only discovered incidentally.
  • Cartwright-Nelson-Fryns syndrome: A rare syndrome characterized by mental and physical retardation as well as nail and digital abnormalities.
  • Cataract skeletal anomalies: A condition characterized by the association of cataracts and skeletal anomalies. Variable other symptoms may also be present.
  • Catel-Manzke Syndrome: A rare genetic disorder characterized by a small jaw, cleft palate and an extra bone at the base of the pointer finger.
  • Cephalopolysyndactyly: A rare genetic disorder characterized by premature closing of skull bones and craniofacial abnormalities, finger and toe abnormalities. The type and severity of symptoms is variable with many cases remaining undiagnosed because their condition is relatively mild and doesn't cause many problems.
  • Cerebellar atrophy with progressive microcephaly: A very rare disorder characterized mainly by a small brain, small head, underdeveloped brain, brain degeneration, contractures, eye problems and seizures.
  • Cerebro oculo skeleto renal syndrome: A very rare syndrome characterized mainly by brain, eye, skeletal and kidney abnormalities.
  • Cerebro-Oculo-Facio-Skeletal Syndrome: A genetic disorder involving degeneration of the brain and spinal cord that starts during the fetal stage.
  • Cerebro-facio-thoracic dysplasia: A very rare syndrome characterized by mental retardation, spinal and rib defects and facial anomalies.
  • Cerebrocostomandibular Syndrome: A rare genetic disorder characterized by a very small jaw, abnormal rib development and a small thorax as well as other abnormalities.
  • Cerebrorenodigital syndrome with limb malformations and triradiate acetabula: A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities as well as an abnormal hip socket.
  • Cervical Spondylosis: Condition where bony changes within the cervical spine causes spinal cord compression with associated neck pain; usually seen in patients over 40 years of age.
  • Cervical ribs, sprengel anomaly, anal atresia, urethral obstruction: A rare disorder characterized mainly by kidney and urinary system abnormalities, scoliosis and omphalocele. The features of the disorder are variable with male cases tending to be more severe than female cases. Only a few cases of this condition have been reported.
  • Cervicooculoacoustic syndrome: A rare genetic disorder characterized by ocular palsy, congenital perceptive deafness and fusion of the vertebrae in the neck.
  • Charlie M syndrome: A rare birth disorder characterized by facial abnormalities and malformed or missing parts of the ends of the arms and legs.
  • Chiari Malformation: Protrusion of the brain down the spinal column.
  • Chiari-1 Malformation: A rare malformation where the base of the brain enters into the upper spinal canal.
  • 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.
  • Chitayat Meunier Hodgkinson syndrome: A very rare syndrome characterized by face and finger abnormalities
  • Chitty Hall Baraitser syndrome: A very rare syndrome characterized by short stature (due to abnormal development of ends of thigh bones), deafness, blocked tear ducts and thigh bone abnormalities.
  • Chitty-Hall-Webb syndrome: A very rare syndrome characterized mainly by fractures, bowed shin bones, abnormal forearm bone (radius) and reduced bone mass.
  • Chondroblastoma (benign): A rare benign bone tumor that usually forms in the ends of long bones such as the leg bones.
  • Chondrocalcinosis: A rare inherited metabolic disorder where the chemical calcium pyrophosphate dihyrdate is deposited in one or more joints in the body - usually the knee is affected.
  • Chondrodysplasia: Hereditory bone dysplasia.
  • Chondrodysplasia -- disorder of sex development: A very rare syndrome characterized mainly by severe dwarfism, abnormal bone development and central nervous system and eye problems.
  • Chondrodysplasia -- pseudohermaphrodism: A very rare syndrome characterized mainly by severe dwarfism, abnormal bone development and central nervous system and eye problems.
  • Chondrodysplasia Punctata, Rhizomelic type: A rare genetic disorder characterized by slow growth, mental deficiency, characteristic facial features and skeletal deformities particularly of the limbs, spine and pelvis.
  • Chondrodysplasia punctata: A group of inherited disorder affecting the skeleton, skin, eyes and mental function. The disorders are characterized mainly by stippled epiphyses (abnormal calcification near joints) during infancy. The various forms of the disorders have varying severity with some causing death before or soon after birth. The range of symptoms also various between the various types.
  • Chondrodysplasia punctata lethal neonatal: A rare skeletal disorder which results in the infant's death before or soon after birth. Symptoms include a variety of severe skeletal abnormalities and an enlarged head.
  • Chondrodysplasia punctata with steroid sulfatase deficiency: A genetic skeletal and skin disorder involving a deficiency of steroid sulfatase. The skin condition is characterized by large brownish scales which can occur almost anywhere on the skin and can be disfiguring. The face, scalp, palms and soles are usually not involved. The skeletal disorder involves abnormal bone calcification near the joints also results in shortened limbs.
  • Chondrodysplasia punctata, Sheffield type: A rare genetic disorder characterized by bone anomalies, failure to thrive and unusual facial features. The bone anomalies consists of abnormal calcification in various parts of the body such as the feet, toes, ankle, tailbone, vertebrae, top of thigh, upper arm and laryngeal cartilage. The calcification abnormalities tend to resolve after within the first 5 years.
  • Chondrodysplasia punctata, brachytelephalangic: A rare disorder characterized by abnormal bone development involving stippled (speckled) calcification of growing ends of long bones. The main features of this disorder are retarded growth, facial anomalies and short end bones in fingers.
  • Chondrodysplasia punctata, humero-metacarpal type: A rare genetic disorder characterized mainly by abnormal bone calcification. The abnormal calcification occurred in various parts of the body such as the feet, shoulders, tailbone, spine and trachea.
  • Chondrodysplasia punctata, non rhizomelic type: A group of inherited disorder affecting the skeleton, skin, eyes and mental function. The disorders are characterized mainly by stippled epiphyses (abnormal calcification near joints) during infancy. The non-rhizomelic forms tend to be milder, with minimal or no upper limb shortening. The Joints in the ends of the arms and legs tend to be more affected. Some of the specific disorders in this group are Conradi-Hunermann disease, Happle's chondrodysplasia and brachytelephalagnic chondrodysplasia punctata. The range of symptoms and severity may vary between disorders.
  • Chondrodysplasia punctata, tibia-metacarpal type: A rare inherited disorder involving abnormal skeletal development and characterized mainly by short shin bones and shortness of some metacarpal bones (hand bones).
  • Chondrodysplasia, Grebe type: A rare genetic disorder characterized by dwarfism and various limb deformities.
  • Chondrodysplasia, acromesomelic, with genital anomalies: A very rare condition characterized by severe limb malformations and genital anomalies. The reported case involved related parents.
  • Chondrodysplasia, type Nance-Sweeney: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
  • Chondrodystrophia punctata, autosomal dominant: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
  • Chondrodystrophy: The abnormal development of cartilage which affects bone growth. The long bones of the body tend to be affected the most and results in short limbs.
  • Chondroectodermal dysplasia: A rare genetic disorder characterized by dwarfism, extra fingers and/or toes and nail and hair abnormalities.
  • Chondroma: A type of tumor that develops from cartilage tissue. The can occur on any part of the bone: enchondromas form inside the bone marrow and periosteal chondromas form on the surface of the bone.
  • Chondromatosis (benign): Benign cartilage growths that can occur in various parts of the body. Symptoms are determined by the size and exact location of the growth. For example, a spinal chondroma can result in compression of the spinal cord.
  • Chondrosarcoma: Chondrosarcoma is the second most frequent primary malignant tumor of bone, representing approximately 25% of all primary osseous neoplasms. Chondrosarcomas are a group of tumors with highly diverse features and behavior patterns, ranging from slow-growing non-metastasizing lesions to highly aggressive metastasizing sarcomas.
  • Chondrosarcoma (malignant): A form of bone cancer that originates from cartilage tissue. The most common areas affected are the pelvic bones, femur, humerus, arm, spine and ribs
  • Chorioretinopathy -- microcephaly, autosomal recessive: A rare, recessively inherited disorder characterized by a small head and a degenerative eye condition.
  • Chorioretinopathy dominant form -- microcephaly: A rare inherited disorder characterized by a small head, mental retardation and a degenerative eye condition.
  • Christian's syndrome 1: A rare recessively inherited syndrome characterized by premature skull fusion, cleft palate, permanently flexed fingers and various other anomalies.
  • Christian-Demyer-Franken syndrome: A rare syndrome characterized mainly by mental retardation and skeletal abnormalities.
  • Chronic recurrent multifocal osteomyelitis: A rare chronic inflammatory bone disease that occurs in children. The symptoms go into periods of remission only to return. The most common sites for the inflammation are the shinbone, thighbone and collarbone with usually several sites being affected at once.
  • Classic Distal Renal Tubular Acidosis: A condition which is characterized by the formation of an acidosis due to a problem with the renal distal tubule
  • Clavicle, pseudoarthrosis of, congenital: A rare congenital condition where the collarbone doesn't develop normally.
  • Cleft lip -- palate -- abnormal thumbs -- microcephaly: A very rare syndrome characterized by a small head, thumb abnormalities and a cleft lip and palate.
  • Cleft lip -- palate -- ectrodactyly: A very rare syndrome characterized by a cleft lip and palate and missing fingers and toes.
  • Cleft palate -- cardiac defect -- genital anomalies -- ectrodactyly: A very rare syndrome characterized by variable symptoms including cleft palate, heart defects, genital anomalies and hand and foot malformations.
  • Cleft palate -- heart disease -- polydactyly -- absent tibia: A rare syndrome characterized by a cleft palate, heart disease, extra digits and an absent shin bone.
  • Cleft palate -- short stature -- vertebral anomalies: A very rare syndrome characterized by a cleft palate, short stature and abnormalities of the vertebrae in the spine.
  • Cleft palate cardiac defect ectrodactyly: A very rare syndrome characterized mainly by the association of a cleft palate, heart defect and a hand malformation.
  • Cleft palate colobomata radial synostosis deafness: A very rare syndrome characterized mainly by a cleft palate, fused forearm bone, deafness and colobomata.
  • Cleidocranial dysplasia: A rare genetic disorder characterized by collarbone defects, late ossification of cranial sutures and delayed tooth eruption.
  • Cleidorhizomelic syndrome: A very rare inherited syndrome mainly involving skeletal abnormalities.
  • Cloverleaf skull micromelia thoracic dysplasia: A rare disorder characterized by a cloverleaf skull deformity, small limbs and bone abnormalities of the chest and spine. The disorder is lethal.
  • Coffin-Lowry syndrome: A rare genetic disorder characterized by down slanting space between eyelids, bulbous nose, soft hands and tapering fingers.
  • Cohen-Hayden syndrome: A very rare syndrome characterized mainly by mental retardation, eye defect and various growth abnormalities of the bone, skin and head.
  • Coloboma of macula, type B brachydactyly: A rare disorder characterized by congenital macular colobomas and finger and toe abnormalities.
  • Congenital Gigantism with Skeletal Dysplasia: A rare syndrome characterized mainly by the association of a large size at birth with various skeletal anomalies.
  • Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/Spinal abnormalities: A rare syndrome characterized by overgrowth of fatty tissue, blood vessel malformations, birth marks and skeletal and spinal abnormalities. The condition is a progressive one and there have been less than 20 reported cases.
  • Congenital craniosynostosis maternal hyperthyroiditis: The association of maternal thyroid disease with premature fusion of skull bones in infants. Studies have shown and increased risk of craniosynostosis in infants born to mothers with hyperthyroidism.
  • Congenital fiber type disproportion: A rare inherited disease involving abnormalities in the growth of type I muscle fibers.
  • Congenital heart disease -- radio ulnar synostosis -- mental retardation: A very rare syndrome characterized mainly by heart disease at birth, fusion of forearm bones and mental retardation.
  • Congenital heart disease radio ulnar synostos mental retardation: A very rare syndrome characterized mainly by the presence of mental retardation, congenital heart disease and fusion of the forearm bones.
  • Congenital heart disease, ptosis, hypodontia, craniosynostosis: A rare birth syndrome characterized by heart disease, droopy eyelids, missing teeth and premature fusion of skull bones.
  • Congenital ichthyosis, microcephalus, quadriplegia: A rare birth disorder characterized by scaly skin, small head and paralysis of legs and arms.
  • Congenital microgastria limb reduction defect: A rare syndrome characterized by micrograstia and limb reduction as well as other abnormalities.
  • Congenital pseudoarthrosis: A very rare birth defect where the middle portion of a bone fails to develop normally so that the two ends of the bone shaft are not joined. This gives the bone the appearance of having a joint. Bones commonly affected include the shin bone, collar bone, forearm bone and upper leg bone - one or more bones may be involved.
  • Congenital short femur: A birth defect where the thigh bone is abnormally short.
  • Conorenal Syndrome: A rare inherited disorder characterized mainly by kidney failure, abnormal bone development (cone-shaped epiphyses), eye problems and ataxia.
  • Conradi-Huenermann Syndrome: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
  • Conradi-Hunermann syndrome: A rare genetic disorder characterized by growth deficiency, short limbs, large skin pores, sparse hair and other abnormalities.
  • Corneal dystrophy -- ichthyosis -- microcephaly -- mental retardation: A very rare syndrome characterized by vision loss, scaly skin, small head and mental retardation.
  • Cornelia de Lange Syndrome: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. The severity of symptoms is variable.
  • Cornelia de Lange syndrome 1: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 1 is more severe than type 2 though the range and severity of symptoms is variable.
  • Cornelia de Lange syndrome 2: A very rare disorder involving delayed physical development and various malformations involving the head, face and limbs. Type 2 is not as severe as type 1 with some of the abnormalities not presenting until later in life or absent altogether. The range and severity of symptoms is variable.
  • Corneodermatoosseous syndrome: A very rare syndrome characterized mainly by thick, scaly skin on the palms and soles, corneal changes and dental problems.
  • Corpus callosum agenesis -- polysyndactyly: A rare syndrome characterized by skin and gastrointestinal defects, extra digits and skull and facial anomalies.
  • Corpus callosum agenesis double urinary collecting: A very rare syndrome characterized mainly by abnormal development of the structure separating the two halves of the brain as well as duplicated ureters that collect the urine from the kidney and deliver it to the bladder.
  • Corpus callosum agenesis double urinary collecting system and trigonocephaly: A very rare syndrome characterized mainly by abnormal development of the structure separating the two halves of the brain as well as duplicated ureters that collect the urine from the kidney and deliver it to the bladder.
  • Corpus callosum, agenesis of, blepharophimosis Robin type: A very rare syndrome characterized by abnormal brain development, various facial anomalies, heart defects and other symptoms.
  • Cortada Koussef Matsumoto syndrome: A rare syndrome characterized by various skeletal abnormalities, small head and mental retardation.
  • Cortada-Kousseff-Matsumoto syndrome: A rare syndrome characterized by various skeletal abnormalities, small head and mental retardation.
  • Cortes-Lacassie syndrome: A rare syndrome characterized by nail, hair and teeth abnormalities, malformed hands and feet and seizures. The disorder has only been reported in one cause which resulted in death at 31 months
  • Cortical blindness -- mental retardation -- polydactyly: A very rare syndrome characterized by mental retardation, extra fingers and vision loss.
  • Cortical hyperostosis-syndactyly: A rare genetic disorder characterized by webbed fingers and thickening and overgrowth of bones.
  • Cote-Katsantoni syndrome: A rare condition characterized by osteosclerosis, atrial septal defect, malabsorption, neutropenia, ectodermal dysplasia, growth retardation and mental retardation.
  • Cousin Walbrau Cegarra Syndrome:
  • Cousin Walbraum Cegarra syndrome: A rare syndrome characterized mainly by short stature at birth, unusual facial appearance and skeletal abnormalities involving the shoulder blades and hips.
  • Coxa vara, congenital: A hip deformity present at birth and characterized by a reduced angle between the ball and shaft of the thigh bone.
  • Coxoauricular syndrome: A very rare syndrome characterized by skeletal and ear abnormalities, short stature and deafness.
  • Crane-Heise syndrome: A very rare fatal disorder characterized by numerous abnormalities.
  • Cranio osteoarthropathy: A very rare syndrome characterized by large fontanelles, joint problems and finger clubbing.
  • Cranio-facio-cardio-skeletal dysplasia: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and facial and skeletal abnormalities.
  • Cranio-facio-digito-genital syndrome: A rare disorder characterized by skull, facial, digital and genital anomalies.
  • Cranioacrofacial syndrome: A very rare syndrome characterized mainly by heart, hand, facial and skull anomalies.
  • Craniodiaphyseal dysplasia: A very rare bone disorder where excess calcium is deposited mainly in the skull bones which can result in compression of various nerves in the skull and even the brain.
  • Craniodiaphyseal dysplasia, autosomal dominant: A rare inherited syndrome characterized mainly by bone overgrowth and sclerosis or hardening which affects mainly the skull but other bones are often involved as well. Craniotubular dysplasia is a similar condition but involves more severe hyperostosis and sclerosis.
  • Cranioectodermal dysplasia: A rare condition involving various congenital deformities such as short stature, long head, widely spaced eyes and teeth abnormalities.
  • Craniofacial and skeletal defects: A very rare syndrome characterized mainly by skeletal defects and facial and skull anomalies.
  • Craniofacial conodysplasia: A rare disorder characterized by neurological symptoms and abnormally-shaped bones in the hands and feet. The neurological symptoms are caused by a buildup of fluid inside the skull as well as compression of the spinal cord at the neck-skull junction.
  • Craniofacial dysostosis type 1: A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include poor vision, hypoplasia of maxilla an impaired hearing.
  • Craniofacial dyssynostosis: A very rare syndrome characterized primarily by the premature fusion of certain skull bones which gives the head an abnormal shape and also causes unusual facial features.
  • Craniofaciocardioskeletal syndrome: A very rare syndrome characterized by facial, skull, heart and skeletal abnormalities.
  • Craniofaciocervical osteoglyphic dysplasia: A very rare syndrome characterized by a short head and face, skeletal anomalies and destruction of tooth sockets.
  • Craniofacioskeletal syndrome: A rare syndrome characterized by skull, facial and skeletal abnormalities. The disorder is inherited in a X-linked manner and results in death within months of birth in males. Females do have some of the abnormalities but males tend to be more severely affected.
  • Craniofrontonasal Syndrome: A congenital condition with multiple anomalies associated with mental retardation and skeletal disfigurement.
  • Craniofrontonasal dysplasia: A rare genetic disorder mainly found in females and characterized by premature closing of skull bones and craniofacial and limb abnormalities.
  • Craniofrontonasal syndrome Teebi type: A very rare syndrome characterized primarily by widely spaced eyes and other head and face abnormalities.
  • Craniolenticulosutural dysplasia: A rare syndrome characterized by skeletal defects and an unusual facial appearance consisting mainly of a prominent forehead, wide-set eyes, broad nose and a prominent forehead with a birthmark.
  • Craniometadiaphyseal dysplasia, wormian bone type: A rare syndrome characterized by various skeletal and skull anomalies.
  • Craniometaphyseal dysplasia dominant type: A rare genetic disorder characterized by head and facial abnormalities as well as mild limb abnormalities. Increased cranial pressure can lead to further complications.
  • Craniometaphyseal dysplasia, autosomal recessive type: A rare genetic disorder characterized by head and facial abnormalities as well as mild limb abnormalities. It is a milder form of the disease than the autosomal dominant type.
  • Craniomicromelic syndrome: A very rare syndrome characterized by skull and facial abnormalities, short arms and legs and retarded fetal growth.
  • Craniorachischisis: A rare malformation characterized by skull and spinal bone defects which leaves the brain and the nerves in the spine exposed. The severity of the condition is variable and generally results in death before or soon after birth. Often other defects such as imperforate anus or hernia is also present.
  • Craniostenosis cataract: A rare condition characterized by the association of cataracts and premature fusion of the skull bones.
  • Craniosynostosis: A defect involving the fusion of one or more bones in the skull before it has finished growing which affects the head size and shape and can affect the growth of the brain. The defect is often associated with other conditions. Symptoms are determined by which skull bones are prematurely fused.
  • Craniosynostosis -- Dandy-Walker -- Hydrocephalus: A very rare disorder characterized primarily by the premature fusion of skull bones (sagittal), the Dandy-Walker malformation and a buildup of fluid in the brain (hydrocephalus). The Dandy-Walker malformation is where a cyst develops in the back of the brain and interferes with the movement of fluid through the brain resulting in an accumulation of fluid.
  • Craniosynostosis -- alopecia -- brain defect: A very rare syndrome characterized mainly by a malformed skull, lack of hair and a brain defect.
  • Craniosynostosis -- brachysyndactyly of hands and absence of toes: A rare condition characterized mainly by premature fusion of skull bones, limb defects and a cleft lip or palate.
  • Craniosynostosis -- cataract: A rare disorder characterized cataracts and the premature fusion of skull bones which gives the head an unusual shape.
  • Craniosynostosis -- congenital heart disease -- mental retardation: A rare syndrome characterized mainly by heart and skull abnormalities as well as mental retardation.
  • Craniosynostosis -- fibular aplasia: A very rare disorder characterized primarily by the premature fusion of skull bones as well missing or underdeveloped fibula (lower leg bone behind shin bone).
  • Craniosynostosis -- intracranial calcifications: A rare syndrome characterized by the premature fusion of skull bones as well as abnormal calcifications inside the skull. The features of the disorder may vary.
  • Craniosynostosis Fontaine type: A very rare disorder characterized primarily by the premature fusion of skull bones, hand, foot and stomach anomalies and a brain malformation (bilateral periventricular nodular heterotopia).
  • Craniosynostosis Maroteaux Fonfria type: A rare disorder which is similar to a condition called Apert syndrome but also involves extra fingers and toes. Apert syndrome is characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally
  • Craniosynostosis Philadelphia type: A rare disorder characterized primarily by the premature fusion of several skull bones as well as the incomplete separation of fingers and toes (syndactyly). The condition has been reported in five generations of one family.
  • Craniosynostosis arthrogryposis cleft palate: A rare syndrome characterized by the association of craniosynostosis (premature fusion of skull bones), cleft palate and arthrogryposis.
  • Craniosynostosis autosomal dominant: A dominantly inherited defect involving the fusion of one or more bones in the skull before it has finished growing which affects the head size and shape and can affect the growth of the brain. The defect is often associated with other conditions. Symptoms are determined by which skull bones are prematurely fused.
  • Craniosynostosis cleft lip palate arthrogryposis: A rare condition characterized mainly by the association of premature fusion of skull bones (craniosynostosis), cleft lip and/or palate and arthrogryposis.
  • Craniosynostosis contractures cleft: A rare condition characterized by the association of premature fusion of skull bones (craniosynostosis), contractures and oral clefting.
  • Craniosynostosis exostoses nevus epibulbar dermoid: A rare syndrome characterized by the premature fusion of skull bones, excessive bone growth (hyperostosis), epibulbar dermoids (benign eye tumor) and a skin disorder (linear verrucous epidermal nevus). Patients with this condition need to avoid using aminoglycosides as they can have a negative impact on hearing.
  • Craniosynostosis mental retardation clefting syndrome: A rare disorder characterized by premature fusion of the skull bones (craniosynostosis), mental retardation a cleft lip and/or palate.
  • Craniosynostosis radial aplasia syndrome: A rare genetic disorder characterized by premature closing of skull bones, growth deficiency and anal, limb, urogenital and craniofacial abnormalities.
  • Craniosynostosis, anal anomalies, and porokeratosis: A very rare disorder characterized primarily by the premature fusion of skull bones (coronal sutures), anal anomalies and a skin disorder called porokeratosis.
  • Craniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus: A very rare disorder characterized primarily by the premature fusion of skull bones (sagittal), the Dandy-Walker malformation and a buildup of fluid in the brain (hydrocephalus). The Dandy-Walker malformation is where a cyst develops in the back of the brain and interferes with the movement of fluid through the brain resulting in an accumulation of fluid.
  • Craniotelencephalic dysplasia: A very rare syndrome characterized primarily by premature fusion of various skull bones and abnormal brain development.
  • Craniotubular syndrome: A rare syndrome characterized mainly by bone overgrowth and sclerosis or hardening which affects mainly the skull but other bones are often involved as well. Craniodiaphyseal dysplasia is a similar condition but involves less severe hyperostosis and sclerosis.
  • Crossed polydactyly: Hand and foot anomalies involving extra digits and webbing. This form is characterized by involvement of the outer part of the hand and the inner part of the feet e.g. extra fingers next to the smallest finger and extra big toes.
  • Crossed polydactyly type 1: A birth defect where there is an extra big toe combined with and extra finger on the opposite side to the thumb or and extra thumb and an extra toe on the opposite side to the thumb. Webbing of various fingers and toes is also often present.
  • Crossed polysyndactyly: A rare malformation characterized by an extra finger beside the small finger, duplication of the big toe and webbing of various fingers and toes.
  • Crouzon Syndrome: A condition which is characterized by craniofacial dysostosis
  • Crouzonodermoskeletal syndrome: A rare disorder characterized by the premature jointing of the skull bones as well as acanthosis nigricans which is a skin condition.
  • Culler-Jones syndrome: A very rare syndrome characterized mainly by hypopituitarism (low pituitary hormone level) which affects other hormone levels and an extra little finger.
  • Currarino-Silverman: A rare disorder characterized by bone abnormalities in the chest region.
  • Cushing's symphalangism: A rare syndrome characterized by deafness and the fusion of joints in the middle of fingers and toes as well as fusion of hand and foot bones.
  • Cutis Laxa with Bone Dystrophy: A recessively inherited condition characterized mainly by loose wrinkly skin and growth and developmental delay.
  • Cutis laxa -- osteoporosis: A very rare disorder characterized mainly by loose skin and osteoporosis. The bones are so weak they fracture easily during infancy and can result in bone deformity.
  • Cyprus facial neuromusculoskeletal syndrome: A rare inherited syndrome characterized by variable neurological, muscular and skeletal abnormalities as well as a characteristic face.
  • Czeizel-Losonci syndrome: A very rare syndrome characterized by missing fingers, ureter abnormalities, webbed fingers and toes and abnormal spinal development.
  • Dahlberg syndrome: A rare condition characterized by hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and short end bones in fingers and toes.
  • Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy: A very rare syndrome characterized mainly by mental retardation, large head, short fingers, nearsightedness and brain abnormalities (Dandy-Walker type).
  • Daneman Davy Mancer syndrome: A very rare syndrome characterized mainly by kidney, thyroid and finger and toe abnormalities.
  • Dauwerse-Peters syndrome: A rare disorder characterized by short stature, unusual facial appearance, very short fingers and short toes as well as other skeletal anomalies.
  • Deafness -- cataracts -- skeletal anomalies: A rare disorder characterized by deafness, cataracts and skeletal abnormalities as well as other anomalies.
  • Deafness -- craniofacial syndrome: A very rare syndrome characterized mainly by deafness and abnormalities of the skull and face.
  • Deafness -- epiphyseal dysplasia -- short stature: A very rare syndrome characterized by short stature (due to abnormal development of ends of thigh bones), deafness, blocked tear ducts and thigh bone abnormalities.
  • Deafness -- goiter -- stippled epiphyses: A congenital metabolic disorder where the body fails to respond to thyroid hormone even though there is sufficient quantities of the hormone.
  • Deafness -- hypospadias -- metacarpal and metatarsal synostosis: A very rare syndrome characterized mainly by deafness, penis abnormalities and bone anomalies in the foot and hands.
  • Deafness -- onychodystrophy -- osteodystrophy -- mental retardation: A very rare inherited disorder involving deafness (D), onychodystrophy (O - nail malformation), osteodystrophy (O - bone malformation) and mental retardation (R).
  • Deafness -- skeletal dysplasia -- lip granuloma: A very rare syndrome characterized mainly by deafness, skeletal abnormalities, mental retardation and full lips.
  • Deafness conductive -- ptosis -- skeletal anomalies: A very rare syndrome characterized mainly by deafness, droopy eyelids and skeletal abnormalities.
  • Deafness symphalangism: A rare genetic disorder characterized by deafness, distinctive facial features and fusion of various bones in the fingers, toes and upper arms. Joint ankylosis starts in early childhood and is progressive.
  • Delayed membranous cranial ossification: A very rare syndrome characterized mainly by abnormal calcification of the skull.
  • Dennis-Fairhurst-Moore syndrome: A very rare lethal syndrome characterized mainly by dwarfism, characteristic facial features, small eyes and reduced hair.
  • Dent-Friedman syndrome: A rare form of osteoporosis that occurs in children and adolescents and no cause can be determined.
  • Dentin dysplasia -- sclerotic bones: A rare inherited disorder characterized by teeth and bone abnormalities.

 

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