NationMaster - Encyclopedia: Spondyloepiphyseal dysplasia congenita

Spondyloepiphyseal dysplasia congenita is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision and hearing. The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends of bones (epiphyses), and that it is present from birth (congenital). The signs and symptoms of spondyloepiphyseal dysplasia congenita are similar to, but milder than, the related skeletal disorders achondrogenesis type 2 and hypochondrogenesis. Spondyloepiphyseal dysplasia congenita is a subtype of collagenopathy, types II and XI.FNORD! The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD-10) is a coding of diseases and signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or diseases, as classified by the World Health Organization (WHO). ... // Q00-Q99 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q07) Congenital malformations of the nervous system (Q00) Anencephaly and similar malformations (Q01) Encephalocele (Q02) Microcephaly (Q03) Congenital hydrocephalus (Q04) Other congenital malformations of brain (Q05) Spina bifida (Q06) Other congenital malformations of spinal cord (Q07) Other congenital malformations of nervous... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... eMedicine is an online clinical medical knowledge base that was founded in 1996. ... This article is about the skeletal organs. ... This page is about the medical condition. ... This does not cite any references or sources. ... Hearing is the following: Hearing is the sense by which sound is perceived. ... The vertebral column seen from the side Different regions (curvatures) of the vertebral column The vertebral column (backbone or spine) is a column of vertebrae situated in the dorsal aspect of the abdomen. ... The word epiphysis can mean: The pineal gland, one of the endocrine glands. ... A congenital disorder is a medical condition or defect that is present at or before birth (for example, congenital heart disease). ... Achondrogenesis is a number of disorders which are the most severe form of congenital chondrodysplasia (malformation of bones and cartilage). ... Hypochondrogenesis is a severe, inherited disorder of bone growth. ... The type II and XI collagenopathies are a group of disorders that affect connective tissue, the tissue that supports the bodys joints and organs. ...

People with spondyloepiphyseal dysplasia are short-statured from birth, with a very short trunk and neck and shortened limbs. Their hands and feet, however, are usually average-sized. Adult height ranges from 0.9 metres to just over 1.4 metres. Curvature of the spine (kyphoscoliosis and lordosis) progresses during childhood and can cause problems with breathing. Changes in the spinal bones (vertebrae) in the neck may also increase the risk of spinal cord damage. Other skeletal signs include flattened vertebrae (platyspondyly), a hip joint deformity in which the upper leg bones turn inward (coxa vara), and an inward- and downward-turning foot (called clubfoot). Decreased joint mobility and arthritis often develop early in life.FNORD! Lordosis is a term used to describe the direction of the curvature of the five lumbar and seven cervical vertebrae of the vertebral column. ... A diagram of a thoracic vertebra. ... A human neck. ... The Spinal cord nested in the vertebral column. ... Bones of the Hip In anatomy, the hip is the bony projection of the femur, known as the greater trochanter, and the overlying muscle and fat. ... A Coxa vara is the deformity of the hip, whereby the angle between the ball and the shaft of the femur is reduced. ... Talipes equinovarus, otherwise known as clubfoot, is a congenital disorder where the foot is turned inward (inversion) and in plantar flexion. ...

People with this condition have mild and variable changes in their facial features. The cheekbones close to the nose may appear flattened. Some infants are born with an opening in the roof of the mouth, which is called a cleft palate. Severe nearsightedness (high myopia) is common, as are other eye problems that can affect vision. About one-quarter of people with this condition have hearing loss.FNORD! The zygomatic bone (also known as the zygoma; Os Zygomaticum; Malar Bone) is a paired bone of the human skull. ... Normal vision. ...

Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. The protein made by this gene forms type II collagen, a molecule found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). Type II collagen is essential for the normal development of bones and other connective tissues. Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones from developing properly and causes the signs and symptoms of this condition.FNORD! Image File history File links Autodominant2. ... Image File history File links Autodominant2. ... It has been suggested that this article or section be merged into Dominance relationship. ... COL2A1 (collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)) is a human gene that provides instructions for the production of the pro-alpha1(II) chain of type II collagen. ... Tropocollagen triple helix. ... Cartilage is a type of dense connective tissue. ... Vitreous refers to a material in a glassy state. ... Connective tissue is one of the four types of tissue in traditional classifications (the others being epithelial, muscle, and nervous tissue. ...

Spondyloepiphyseal dysplasia congenita is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder.FNORD!

Actor Warwick Davis's dwarfism has been attributed to spondyloepiphyseal dysplasia congenita.FNORD! Warwick Ashley Davis (born February 3, 1970) is an English actor. ...

External links

Category: Genetic disorders The U.S. National Library of Medicine (NLM), operated by the U.S. federal government, is the worlds largest medical research library. ... GPnotebook is a British medical database for general practitioners (GPs. ... The Collaborative Hypertext of Radiology (or CHORUS) is a reference database that is free of use. ... Duke University is a private coeducational research university located in Durham, North Carolina, USA. Founded by Methodists and Quakers in the present-day town of Trinity in 1838, the school moved to Durham in 1892. ... A congenital disorder is a medical condition or defect that is present at or before birth (for example, congenital heart disease). ... The musculoskeletal system is an organ system that gives animals the ability to physically move, by using the muscles and skeletal system. ... // Q00-Q99 - Congenital malformations, deformations and chromosomal abnormalities (Q00-Q07) Congenital malformations of the nervous system (Q00) Anencephaly and similar malformations (Q01) Encephalocele (Q02) Microcephaly (Q03) Congenital hydrocephalus (Q04) Other congenital malformations of brain (Q05) Spina bifida (Q06) Other congenital malformations of spinal cord (Q07) Other congenital malformations of nervous... A dislocated hip is a condition that can be congenital or acquired. ... This article covers Hip dysplasia, a condition affecting the hip joint, which occurs in humans but is more commonly associated with animals, especially dogs (Canine hip dysplasia). ... Club foot. ... Flat feet, also called pes planus or fallen arches, is a condition in which the arch of the foot collapses, with the entire sole of the foot coming into complete or near-complete contact with the ground. ... Pes cavus is a medical term for a cavus deformity of the foot due to a fixed plantar flexion of the foot. ... Plagiocephaly is a type of cephalic disorder. ... Pectus excavatum is a congenital deformity (often present at birth) of the sternum, which is pressed into the chest, resulting in a caved-in or sunken appearance. ... Pectus carinatum, also called pigeon chest, is a deformity of the chest characterized by a protrusion of the sternum. ... Genu varum A deformity marked by medial angulation of the leg in relation to the thigh; an outward bowing of the legs. ... This article is about the human congenital disorder (disease). ... Amelia (from Greek Î± = none plus Î¼ÎÎ»Î¿Ï‚ (plural Î¼ÎÎ»ÎµÎ±) = limb) is the birth defect of lacking one or more limbs. ... Phocomelia (from Greek Ï†oko = seal plus Î¼ÎÎ»Î¿Ï‚ (plural Î¼ÎÎ»ÎµÎ±) = limb) is a congenital disorder involving the limbs (dysmelia), that presents at birth very short or absent long bones and flipper-like appearance of hands and sometimes feet. ... Cleidocranial dysostosis or Cleidocranial dysplasia is a hereditary congenital abnormality of humans. ... This article is considered orphaned, since there are very few or no other articles that link to this one. ... Sprengels deformity is a relatively rare and congenital skeletal abnormality where a person has one shoulder blade that sits higher on the back than the other. ... Arthrogryposis (IPA pronunciation: /ËŒar. ... Craniosynostosis is a medical medical condition in which some or all of the sutures in the skull of an infant close too early, causing problems with normal brain and skull growth. ... Scaphocephaly is a type of cephalic disorder. ... Trigonocephaly is a type of cephalic disorder. ... Oxycephaly is a type of cephalic disorder. ... Crouzon Syndrome is a genetic disorder known as a branchial arch syndrome. ... Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the eyes (orbital hypertelorism), seen in a variety of syndromes, including DiGeorge syndrome and Loeys-Dietz syndrome. ... Macrocephaly (from the greek words Î¼Î±ÎºÏÏÏ‚, meaning long, and ÎºÎµÏ†Î¬Î»Î·, meaning head), a type of cephalic disorder, is a condition in which the head circumference is larger than average for the age and sex of the infant or child. ... Treacher Collins syndrome (also known as Franceschetti-Zwahlen-Klein syndrome or mandibulofacial dysostosis) is a rare genetic disorder characterized by craniofacial deformities. ... Platybasia is a spinal disease of a malformed relationship between the occipital bone and cervical spine. ... Klippel-Feil syndrome is a rare disorder characterized by the congenital fusion of any 2 of the 7 cervical (neck) vertebrae. ... A cervical rib is a supernumerary (extra) rib which arises from the seventh cervical vertebra. ... Bifid rib, bifurcated rib Bifid rib or bifurcated rib. ... Osteochondrodysplasia is a general term for a disorder of the development (dysplasia) of bone (osteo) and cartilage (chondro). Examples include: Achondroplasia Cleidocranial dysostosis Fibrous dysplasia Langer-Giedion syndrome Mafucci syndrome Osteosclerosis Category: ... Achondrogenesis is a lethal bone disease in utero or a few days after the birth. ... Thanatophoric dysplasia is a severe inherited skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs. ... Short rib-polydactyly syndrome is a family of four closely related dysplasias: I - Saldino-Noonan type II - Majewski type III - Verma-Naumoff type IV - Beemer-Langer type Category: ... Chondrodysplasia punctata is a punctiform osteochondrodysplasia. ... Rhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata which present with rhizomelia. ... Conradi-HÃ¼nermann syndrome is a type of chondrodysplasia punctata. ... Circus Busch, 1906 Achondroplasia is a type of autosomal dominant genetic disorder that is a common cause of dwarfism. ... Hypochondroplasia is a developmental disorder caused by an autosomal dominant genetic defect in the fibroblast growth factor receptor 3 gene (FGFR3) that results in a disproportionately short stature, micromelia, and a head that appears large when compared with the underdeveloped portions of the body. ... Ellis-van Creveld Syndrome (also called chondroectodermal dysplasia or mesoectodermal dysplasia) is a rare genetic disorder of the skeletal dysplasia type, with numerous anomalies including post-axial polydactyly, congenital heart defects (most commonly an atrial septal defect producing a common atrium, occurring in 60% of affected individuals), pre-natal tooth... Osteogenesis imperfecta (OI and sometimes known as Brittle Bone Disease) is a genetic bone disorder. ... McCune-Albright syndrome (polyostotic fibrous dysplasia), described in 1937 by Donovan James McCune and Fuller Albright, is a genetic disorder of bones, skin pigmentation and hormonal problems along with premature puberty. ... Osteopetrosis is an extremely rare inherited disorder whereby the bones harden, becoming denser. ... Metaphyseal dysplasia (also called Pyle disease)is a rare disease in which the outer part of the shafts of long bones is thinner than normal and there is an increased chance of fractures. ... Hereditary Multiple Exostoses (HME) is a medical condition whereby multiple exostoses (bony spurs or lumps, also known as osteochondromas) develop on the bones of a child. ... Peritoneopericardial diaphragmatic hernia in a cat Congenital Diaphragmatic Hernia (CDH) is a congenital abnormality that is often life-threatening because it can limit the growth of the lungs. ... An omphalocele is a type of abdominal wall defect in which the intestines, liver, and occasionally other organs remain outside of the abdomen in a sac because of a defect in the development of the muscles of the abdominal wall. ... Gastroschisis is a type of abdominal wall defect in which the intestines and sometimes other organs develop outside the fetal abdomen through an opening in the abdominal wall. ... Prune belly syndrome is a rare birth defect affecting about 1 in 40,000 births. ... Ehlers-Danlos syndrome is a group of rare genetic disorders affecting humans and domestic animals caused by a defect in collagen synthesis. ...