Osteopetrosis may be inherited as either a dominant or recessive trait and is marked by increased bone density, brittle bones, and, in some cases, skeletal abnormalities. Although symptoms may not initially be apparent in people with mild forms of this disorder, trivial injuries may cause bone fractures due to abnormalities of the bone. There are three major types of osteopetrosis: the malignant infantile form, the intermediate for  Read More

The range of severity of McCune-Albright syndrome is broad: some children are diagnosed in early infancy with obvious anomalies of bone and increased hormone production by one or more of the endocrine glands; others show no evidence of bone, skin or endocrine malfunction in childhood and may enter puberty at an appropriate age. The degree of severity of individual symptoms may also vary greatly. Therefore, it is important to note that affected  Read More

Amyotrophic lateral sclerosis facts Amyotrophic lateral sclerosis is a rapidly progressive, invariably fatal neurological disease that attacks the nerve cells responsible for controlling voluntary muscles. Amyotrophic lateral sclerosis, or ALS, is sometimes called Lou Gehrig's disease. As many as 20,000 to 30,000 people in the United States have ALS, and an estimated 5,000 people in the United States are diag  Read More

Antley-Bixler syndrome is typically characterized by structural changes of the skull, bones of the face and other skeletal abnormalities. In most affected infants, there is premature closure of the joints (sutures) between different portions of the skull (craniosynostosis) Additional craniofacial abnormalities may include a large, prominent forehead (frontal bossing), underdeveloped middle regions of the face (midfacial hypoplasia); a large no  Read More

The most common signs and symptoms of arthritis involve the joints. Depending on the type of arthritis you have, your signs and symptoms may include: Pain Stiffness Swelling Redness Decreased range of motion  Read More

Bowen Hutterite syndrome is primarily characterized by distinctive malformations of the head and facial (craniofacial) area as well as additional skeletal, genital, kidney (renal), and/or brain abnormalities. In most instances, there are abnormal growth delays before birth (intrauterine growth retardation), resulting in a low birth weight. In addition, in some cases, the fetus may be in a breech presentation, meaning that the buttocks  Read More

Simpson-Golabi-Behmel Syndrome Type 1 Many different parts of the body can be affected when a person has SGBS. Not every person with SGBS has the same symptoms, and none have all of these symptoms. Overall General muscle weakness and low muscle tone (hypotonia) in 61% of people Large size (macrosomia) Head Abnormal shape of the skull due to early bone fusion (craniosynosto  Read More

Bunions (hallux valgus), commonly known as bunions, is a complex deformity of the first ray of the forefoot. The underlying etiology is not fully understood. It is more common in women than men and is common in those who wear tight shoes or heels. Treatments are of two types: conservative therapy and surgical treatments 1. Conservative therapy It involves nonsurgical and trial-based methods. The techni  Read More

Hajdu-Cheney syndrome (HCS) is a rare, heritable disorder of connective tissue; only about 50 cases have been reported in the medical literature. The breakdown of bone (osteolysis), especially the outermost bones of the fingers and toes (acroosteolysis), is a major characteristic of HCS. In addition, patients with HCS frequently have skull deformities, short stature, joint laxity, reduction of bone mass (osteoporosis) and other sig  Read More

The most prominent feature of cleidocranial dysplasia is a premature closure of the two soft spots on the head (fontanels) and the fibrous joints where bones of the skull meet (sutures) causing abnormal development of the skull. Facial features typically include a prominent forehead, unusually wide face, prominent chin, small upper jaw (maxillary hypoplasia) and bulging of the skull cap. Narrow drooping shoulders caused by complete or partial  Read More

Freeman-Sheldon syndrome is a rare inherited disorder characterized by multiple contractures (i.e., restricted movement around two or more body areas) at birth (congenital), abnormalities of the head and face (craniofacial) area, defects of the hands and feet, and skeletal malformations. Craniofacial abnormalities may consist of characteristic facial features that cause the individual to appear to be whistling. These features include an extrem  Read More

Babies with Crouzon syndrome can have symptoms like these: short and wide or long and narrow head enlarged forehead widely spaced eyes bulging eyeballs crossed eyes (strabismus) eyes that point in two different directions vision loss eyelids that slant downward flattened cheeks curved, beak-like nose small, poorly developed upper  Read More

Treacher Collins syndrome (TCS) is a rare genetic disorder characterized by distinctive abnormalities of the head and face area resulting from underdevelopment (hypoplasia) of certain facial structures including the jaw, cheekbones and nearby structures (zygomatic complex). Craniofacial abnormalities tend to involve the cheekbones, jaws, mouth, ears, and/or eyes. In addition to the various facial abnormalities, affected individuals may have ma  Read More

Granulocytopenia primary, also known as agranulocytosis, is an immunological disorder, in which granulocyte count in the blood reduces below the normal range. Granulocytes are a family of immune cells known as white blood cells (WBCs). Treatment 1. When a person is diagnosed with the disease, any suspected medications or offending agents must be stopped. 2. In immunocompromised persons, general care, s  Read More

A herniated disc is a condition in which the annulus fibrosus is damaged, enabling the nucleus pulposus (which is normally located within the center of the disc) to displace and protrude off the center. It compresses the nerve or spinal and causes spinal cord dysfunction. Treatment The treatment is either surgical or non-surgical. 1. Non-surgical treatment -Non-surgical treatment is the primary a  Read More

Jansen disease is also called Jansen type metaphyseal chondrodysplasia. It is a rare progressive disorder in which the affected individual exhibits unusually short arms and legs and thus short stature. The bulbous portions of the long bones are malformed with unusual cartilage formation due to the condition. Jansen disease is an autosomal dominant genetic disorder associated with hypercalcemia. Affected individuals also experi  Read More

Jansen-type metaphyseal chondrodysplasia is a rare disorder of the bones that results in dwarfism, shortening and thickening of the limbs, and abnormal curvature of the spine. It is caused by mutations in a gene, which encodes dysferlin—a protein that plays an important role in cartilage formation. The disease is characterized by delayed skeletal growth with short stature, shortening of the lower extremities  Read More

In the early stage of the disease, your wrist is painful. As the disease progresses, symptoms include: tenderness over the bone stiffness swelling decreased hand grip difficulty turning the hand upward clicking sound when your wrist moves  Read More

Several medications can be used to treat Legg-Calvé-Perthes disease (LCPD). The type of medication you will receive depends on the severity of your condition and whether you have had it for a long time. The most common LCPD medications include: 1. Pain relievers: These include acetaminophen, ibuprofen, and naproxen sodium. These medications can help you feel less pain when exercising or doing d  Read More

Cri du chat syndrome (CdCS or 5p-) is a rare genetic disorder in which a variable portion of the short arm of chromosome 5 is missing or deleted (monosomic). Symptoms vary greatly from case to case depending upon the exact size and location of the deleted genetic material. Common symptoms include a distinctive cry that resembles the mewing of a cat, characteristic facial features, slow growth, and microcephaly, a condition that indicates that  Read More

Treacher Collins syndrome (TCS) is a rare genetic disorder characterized by distinctive abnormalities of the head and face area resulting from underdevelopment (hypoplasia) of certain facial structures including the jaw, cheekbones and nearby structures (zygomatic complex). Craniofacial abnormalities tend to involve the cheekbones, jaws, mouth, ears, and/or eyes. In addition to the various facial abnormalities, affected individuals may have ma  Read More

Depending on the joint that's affected, signs and symptoms of osteochondritis dissecans might include: Pain. This most common symptom of osteochondritis dissecans might be triggered by physical activity — walking up stairs, climbing a hill or playing sports. Swelling and tenderness. The skin around your joint might be swollen and tender. Joint popping or locking  Read More

Roussy-Lévy Syndrome, also known as hereditary areflexic dystasia, is a rare genetic neuromuscular disorder that typically becomes apparent during early childhood. The disorder is characterized by incoordination, poor judgment of movements, and absence of reflexes of the lower legs and, eventually, the hands; weakness and degeneration (atrophy) of muscles of the lower legs; abnormally high arches of the fee  Read More

CSS is characterized by distinctive abnormalities of the head and facial (craniofacial) region with affected individuals often described as having coarse facial features that become more prominent with age. Affected individuals may have an unusually small or large head (micro- or macrocephaly); a wide mouth with full, prominent lips; a broad nasal tip; a low nasal bridge; and an abnormally long vertical groove between the nose and the upper li  Read More

Dyggve-Melchior-Clausen (DMC) syndrome is a rare, progressive genetic disorder characterized by abnormal skeletal development, microcephaly and intellectual disability. The condition was first reported by Dyggve, Melchior and Clausen in 1962 in three of eight siblings where the father was the mother's paternal uncle. Because of physical appearance and the present of acid mucopolysaccharides in the urine, Dyggve believed that their affected pat  Read More

Spinal muscular atrophy type 3 is an inherited progressive neurodegenerative disease. SMA is caused by alterations (mutations) in the genes that make proteins needed to support motor neuron function. The degree of genetic involvement determines what type of SMA you have as well as the severity of symptoms.1 Since SMA is a genetic condition, there are no specific lifestyle factors known to cause or prevent it.  Read More

Three M syndrome is an extremely rare inherited disorder characterized by low birth weight, delayed bone age, and short stature; characteristic malformations of the head and facial (craniofacial) area; and/or finger (digital) and/or skeletal malformations. In most cases, infants with Three M syndrome are unusually small and have a low birth weight despite being carried to term. This is due to growth delays during fetal development (int  Read More

Dysplasia epiphysealis hemimelica (DEH), also known as Trevor disease, is an extremely rare, non-hereditary disease that is characterized by osteochondromas arising from the epiphyses.This disorder is rare and is characterized by an asymmetrical limb deformity due to localized overgrowth of cartilage, histologically resembling osteochondroma. It is believed to affect the limb bud in early fetal life. The condition occurs  Read More