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Congenital disorders of musculoskeletal system

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hernia
A hernia (: hernias or herniae, from Latin, meaning 'rupture') is the abnormal exit of tissue or an organ, such as the bowel, through the wall of the cavity in which it normally resides. The term is also used for the normal development of the intestinal tract, referring to the retraction of the intestine from the extra-embryonal navel coelom into the abdomen in the healthy embryo at about 7 weeks.
scoliosis
Scoliosis (: scolioses) is a medical condition in which the spine has an irregular curve in the coronal plane. The curve is usually S- or C-shaped over three dimensions. In some, the degree of curve is stable, while in others, it increases over time. Mild scoliosis does not typically cause problems, but more severe cases can affect breathing and movement. Pain is usually present in adults, and can worsen with age. As the condition progresses, it may alter a person's life, and hence can also be considered a disability. It can be compared to kyphosis and lordosis, other abnormal curvatures of th
abnormal kyphosis
Kyphosis () is an abnormally excessive convex curvature of the spine as it occurs in the thoracic and sacral regions. Abnormal inward concave lordotic curving of the cervical and lumbar regions of the spine is called lordosis.
flat feet
human foot arch that is very low
spina bifida
congenital disorder of nervous system
polydactyly
clubfoot
Treacher Collins syndrome
human genetic disorder
hip dysplasia
human disease
abnormal lordosis
Lordosis is historically defined as an abnormal inward curvature of the lumbar spine. However, the terms lordosis and lordotic are also used to refer to the normal inward curvature of the lumbar and cervical regions of the human spine. Similarly, kyphosis historically refers to abnormal convex curvature of the spine. The normal outward (convex) curvature in the thoracic and sacral regions is also termed kyphosis or kyphotic. The term comes .
gastroschisis
pectus excavatum
congenital deformity of the chest
syndactyly
Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some metatherian mammals, but is an unusual condition in humans. The term is .
craniosynostosis
Craniosynostosis is a condition in which one or more of the fibrous sutures in a young infant's skull prematurely fuses by turning into bone (ossification), thereby changing the growth pattern of the skull. Because the skull cannot expand perpendicular to the fused suture, it compensates by growing more in the direction parallel to the closed sutures. Sometimes the resulting growth pattern provides the necessary space for the growing brain, but results in an abnormal head shape and abnormal facial features. In cases in which the compensation does not effectively provide enough space for the gr
spondylolisthesis
Spondylolisthesis refers to a condition in which one spinal vertebra slips out of place compared to another. While some medical dictionaries define spondylolisthesis specifically as the forward or anterior displacement of a vertebra over the vertebra inferior to it (or the sacrum), it is often defined in medical textbooks as displacement in any direction.
Crouzon syndrome
Congenital disorder of the skull and face
brachydactyly
Brachydactyly () is a medical term denoting the presence of abnormally short digits (fingers or toes) at birth. The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an inherited, dominant trait. It most often occurs as an isolated dysmelia, but can also occur with other anomalies as part of many congenital syndromes. Brachydactyly may also be a signal that one is at risk for congenital heart disease due to the association between congenital heart disease and Carpenter syndrome and the link between Carpenter syndrome and brachydactyly.
cleidocranial dysplasia
osteochondrodysplasia that has material basis in mutations in the RUNX2 gene which results in undeveloped or absent located in clavicle along with delayed closing of fontanels in the located in skull
Scheuermann's disease
osteochondrosis that results in abnormal bone growth and curvature located in thoracic vertebral column
neurogenic arthrogryposis multiplex congenita
Arthrogryposis (AMC) is congenital joint contracture in two or more areas of the body. It derives its name from Greek, actually meaning 'curving of joints' ('''', 'joint'; ', late Latin form of late Greek ', 'hooking').
Poland syndrome
Human disease
ectrodactyly
Ectrodactyly, split hand, or cleft hand () involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation (SHFM). The hands and feet of people with ectrodactyly (ectrodactyls) are often described as "claw-like" and may include only the thumb and one finger (usually either the little finger, ring finger, or a syndactyly of the two) with similar abnormalities of the feet.
brachycephaly
Brachycephaly (from Ancient Greek βραχύς (brakhús), meaning "short", and κεφαλή (kephalḗ), meaning "head") is the shape of a skull shorter than average in its species. It is perceived as a cosmetically desirable trait in some domesticated dog and cat breeds, notably the pug and Persian, and can be normal or abnormal in other animal species.
plagiocephaly
Plagiocephaly, also known as flat head syndrome, is a condition characterized by an asymmetrical distortion (flattening of one side) of the skull. A mild and widespread form is characterized by a flat spot on the back or one side of the head caused by remaining in a supine position for prolonged periods.
phocomelia
Phocomelia is a congenital disorder that involves malformations of human arms and legs which result in a flipper-like appendage. A prominent cause of phocomelia is the mother being prescribed the use of the drug thalidomide during pregnancy; however, the causes of most cases are to be determined.
omphalocele
An omphalocele or omphalocoele, also known as an exomphalos, is a rare abdominal wall defect. Beginning at the 6th week of development, rapid elongation of the gut and increased liver size reduces intra abdominal space, which pushes intestinal loops out of the abdominal cavity. Around 10th week, the intestine returns to the abdominal cavity and the process is completed by the 12th week. Persistence of intestine or the presence of other abdominal viscera (e.g. stomach, liver) in the umbilical cord results in an omphalocele.
genu valgum
orthopaedic condition known as "knock knees"
hammer toe
deformity of the proximal joint of the second, third or fourth toe
Klippel-Feil syndrome
physical disorder that has material basis in abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra
genu varum
varus deformity marked by (outward) bowing at the knee
dolichocephaly
Dolichocephaly (derived from the Ancient Greek δολιχός 'long' and κεφαλή 'head') is a term used to describe a head that is longer than average relative to its width. In humans, scaphocephaly is a form of dolichocephaly.
hypertelorism
Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits (eyes), or orbital hypertelorism. In this condition, the distance between the inner eye corners, as well as the distance between the pupils, is greater than normal. Hypertelorism should not be confused with telecanthus, in which the distance between the inner eye corners is increased, but the distances between the outer eye corners and the pupils remain unchanged.
pectus carinatum
Congenital deformity of the chest
macrocephaly
Macrocephaly is a condition in which circumference of the human head is abnormally large. It may be pathological or harmless, and can be a familial genetic characteristic. People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by particular disorders. Those with benign or familial macrocephaly are considered to have megalencephaly.
Pierre Robin syndrome
a congenital condition with micrognathia and glossoptosis
clinodactyly
Clinodactyly is a medical term describing the curvature of a digit (a finger or toe) in the plane of the palm, most commonly the fifth finger (the "little finger") towards the adjacent fourth finger (the "ring finger").
pes cavus
Misalignment of the foot
dactyly
alt=Human hand anatomy|thumb|Human hand anatomy (pentadactyl) In biology, dactyly is the arrangement of digits (fingers and toes) on the hands, feet, or sometimes wings of a tetrapod animal. The term is derived from the Ancient Greek word δάκτυλος (dáktulos), meaning "finger."
arachnodactyly
Arachnodactyly ("spider fingers") is a medical condition that is characterized by fingers and toes that are abnormally long and slender, in comparison to the palm of the hand and arch of the foot. In some cases, the thumbs of an individual with the condition are pulled inwards towards the palm. This condition is present at birth.
congenital diaphragmatic hernia
diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs
polydactyl cat
cats with genetic anomaly that causes extra toes
Larsen syndrome
autosomal dominant disease that is characterized by large-joint dislocations and characteristic craniofacial abnormalities
trigonocephaly
Trigonocephaly is a congenital condition due to premature fusion of the metopic suture (), leading to a triangular forehead. The premature merging of the two frontal bones leads to transverse growth restriction and parallel growth expansion. It may occur as one component of a syndrome together with other abnormalities, or in isolated form. The term is .
scaphocephaly
Scaphocephaly or sagittal craniosynostosis is a type of cephalic disorder which occurs when there is a premature fusion of the sagittal suture. Premature closure results in limited lateral expansion of the skull, resulting in a characteristic long, narrow head. The skull base is typically spared. The word comes .
dislocation of hip
orthopedic injury
oxycephaly
Turricephaly is a type of cephalic disorder where the head appears tall with a small length and width. It is due to premature closure of the coronal suture plus any other suture, like the lambdoid, or it may be used to describe the premature fusion of all sutures. It should be differentiated from Crouzon syndrome. Oxycephaly (or acrocephaly) is a form of turricephaly where the head is cone-shaped, and is the most severe of the craniosynostoses.
prune belly syndrome
pediatrics cases
coxa vara
hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between the neck and shaft
Hallermann-Streiff syndrome
congenital disorder
synostosis
Synostosis (; plural: synostoses) is fusion of two or more bones. It can be normal in puberty (e.g. fusion of the epiphyseal plate to become the epiphyseal line), or abnormal. When synostosis is abnormal it is a type of dysostosis. Examples of synostoses include: craniosynostosis – an abnormal fusion of two or more cranial bones; radioulnar synostosis – the abnormal fusion of the radius and ulna bones of the forearm; tarsal coalition – a failure to separately form all seven bones of the tarsus (the hind part of the foot) resulting in an amalgamation of two bones; and syndactyly – the abnor
oligodactyly
Oligodactyly () is the presence of fewer than five digits (fingers or toes) on a hand or foot.
Hajdu-Cheney syndrome
rare disease
Ortolani test
part of the physical examination for developmental dysplasia of the hip
Gorham's disease
syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones
Sprengel's deformity
human disease
amelia
birth defect in which an entire limb is missing
Greig cephalopolysyndactyly syndrome
acrocephalosyndactylia that has material basis in mutation in the GLI3 gene which results in abnormal development located in limb, located in head, located in face
saddle nose
condition characterized by a loss of height of the nose, because of the collapse of the bridge
Madelung's deformity
Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow
cervical rib
supernumerary rib bone