What is Spondyloepiphyseal dysplasia congenital?
Spondyloepiphyseal dysplasia congenita is a rare genetic disorder that involves spinal and epiphyseal enlargement (enlargement of the area at the end of the long bones). Classified as a type 2 collagen defect, it affects a structure of connective tissue (collagen) that supports many parts of the body.
How rare is Spondyloepiphyseal dysplasia?
Children with the disorder may also have craniofacial deformities including a cleft palate, a flat face and hypertelorism (wide-set eyes). SEDc is rare, occurring in less than 1 in 100,000 births. It occurs equally in males and females.
What causes Spondyloepiphyseal dysplasia congenita?
Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen.
What is Metatropic dysplasia?
What is metatropic dysplasia? The term metatropic comes from a Greek word meaning “changing form.” Patients with metatropic dysplasia have an abnormality in their growth plates. The result is the wide portion of a long bone (the metaphyses) is knobby in appearance and the spine has a flattening of the vertebral bodies.
How common is cartilage hair hypoplasia?
Cartilage-hair hypoplasia occurs most often in the Old Order Amish population, where it affects about 1 in 1,300 newborns. In people of Finnish descent, its incidence is approximately 1 in 20,000. Outside of these populations, the condition is rare, and its specific incidence is not known.
What bones are affected by Cleidocranial dysplasia?
Cleidocranial dysplasia is a rare genetic condition that affects teeth and bones, such as the skull, face, spine, collarbones and legs. The bones in people with CCD might be formed differently or might be more fragile than normal, and certain bones such as collarbones may be absent.
What is the symptoms for Sedt?
Spondyloepiphyseal dysplasia tarda (SEDT; SEDL) is a rare, hereditary skeletal disorder that only affects males. Physical characteristics include moderate short stature (dwarfism), moderate-to-severe spinal deformities, barrel-shaped chest, disproportionately short trunk, and premature osteoarthritis.
What is Seckel syndrome?
Seckel syndrome is an extremely rare inherited disorder characterized by growth delays prior to birth (intrauterine growth retardation) resulting in low birth weight. Growth delays continue after birth (postnatal), resulting in short stature (dwarfism).
How common is Metatropic dysplasia?
Metatropic dysplasia is a rare disease; its exact prevalence is unknown. More than 80 affected individuals have been reported in the scientific literature.
What causes Metatropic dysplasia?
Metatropic dysplasia is caused by mutations in the TRPV4 gene and is inherited in an autosomal dominant manner. Although there is no specific treatment or cure, there can be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person’s symptoms.
How long do people with cartilage hair hypoplasia live?
What Is the Prognosis for an Individual with Cartilage-Hair Hypoplasia? Individuals with CHH can live a normal lifespan. Those with severe immunodeficiency need to monitor their health more closely. Opportunistic infections can be fatal, particularly in childhood.
