Glossary for Chest deformity

Medical terms related to Chest deformity or mentioned in this section include:

• 18p minus syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing which is characterized by mental and growth deficiencies, drooping upper eyelid and prominent ears. The type and severity of symptoms is determined by the amount of genetic material that is missing.
• 1q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• 3-M Syndrome: A rare genetic condition which is characterized by distinctive physical features and severe growth retardation that starts during the fetal stage. Intelligence is not affected.
• 3q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 3 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• 47 XYY syndrome: A genetic condition where males have an extra Y chromosome in each of their cells. Normally male cells have one X and one Y chromosome. This is not usually an inherited condition but a defect that occurs during cell division. Often the condition is asymptomatic.
• Abscess: This is an area of puss collected in a cavity which is constituted by necrotised tissue
• 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.
• Achondroplasia: A rare disease characterized by abnormal bone growth which results in short stature with short arms and legs, large head and characteristic facial features.
• 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.
• Acrorenal mandibular syndrome: A very rare condition characterized by a split hand or foot deformity, kidney abnormalities and underdeveloped lower jaw.
• Actinomycosis: A chronic infection usually caused by an organism normally found in human bowels and mouths. The disease usually affects the face and neck and results in deep, lumpy abscesses that emit a grainy pus through multiple sinuses.
• Adducted thumb syndrome recessive form: A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
• Adducted thumbs -- arthrogryposis, Christian type: A rare recessively inherited disorder characterized mainly by a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
• Agenesis of the corpus callosum -- mental retardation -- coloboma -- micrognathia: A rare inherited disorder characterized by mental retardation, coloboma, small jaw and a brain anomaly.
• Amastia, bilateral, with ureteral triplication and dysmorphism: A very rare disorder characterized mainly by the absence of both breasts, triplicated ureters (normally they are duplicated), facial anomalies and various other defects.
• Amniotic Bands: A rare condition where abnormal fetal development occurs when bands of tissue encircle parts of the fetus and affect the growth of that portion. The band of tissue develops from the internal womb lining. The location of the band on the fetus determines the symptoms and the seriousness of the condition.
• Ampicillin -- Teratogenic Agent: There is strong evidence to indicate that exposure to Ampicillin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Ankylosing Spondylitis: A form of chronic inflammation of the spine which may also affect joints in the shoulder, hip, neck, ribs and jaw. May result in loss of mobility. Also called Marie-Strumpell disease.
• Anophthalmia -- megalocornea -- cardiopathy -- skeletal anomalies: A rare genetic syndrome characterized by absent or very small eyes, large corneas, congenital heart defects and skeletal abnormalities.
• Arthrogryposis -- ophthalmoplegia -- retinopathy: A very rare syndrome characterized by congenital contractures of the hands and feet as well as eye problems.
• Arthrogryposis -- spinal muscular atrophy: A group of inherited motor neuron diseases involving progressive muscle weakness and wasting due to degeneration of motor neurons in the spinal cord. Joint contractures are also present at birth.
• Asthma: A condition which is characterized by recurrent attacks of paroxysmal dyspnoea
• Bannayan-Zonana syndrome: A rare genetic disorder characterized by macrocephaly, intestinal polyposis, pigmentation of penis and benign tumor-like growths.
• Barrel chest: increased AP diameter of the lung.
• Becker nevus syndrome: A rare disorder characterized by a pigmented hairy skin patch associated with skin, muscle or bone defects on the same side of the body as the skin lesion.
• Bentham-Driessen-Hanveld syndrome: A rare syndrome characterized mainly by the association of undescended testes, long thin fingers and mental retardation.
• Blastomycosis: A fungal infection caused by Blastomyces dermatitidis and resulting in lung, skin, bone and genitourinary involvement.
• Bone symptoms: Symptoms affecting the body's bones
• Brachioskeletogenital syndrome: A rare syndrome characterized by
• Brachycephalofrontonasal dysplasia: A very rare syndrome characterized primarily by widely spaced eyes and other head and face abnormalities.
• Brachycephaly -- deafness -- cataract -- mental retardation: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
• Brachycephaly -- deafness -- cataract -- microstomia -- mental retardation: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
• CDG syndrome type 1A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
• COPD: Severe obstruction of bronchial air flow typically from bronchitis and/or emphysema.
• 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, tall stature, and hearing loss syndrome: A rare syndrome characterized mainly by camptodactyly, tall stature and hearing loss. The hearing loss starts at birth or during infancy and progresses during childhood resulting in mild to severe hearing impairment.
• Cardiofaciocutaneous Syndrome: A rare genetic disorder characterized by short stature, congenital heart defects skin anomalies and frontal bossing.
• Chest conditions: Any condition affecting the chest
• Chest pain: Any chest pain must be considered as cardiac in origin until proven otherwise.
• Chest symptoms: Symptoms affecting the chest region.
• Chitayat-Moore-Del Bigio syndrome: A rare birth disorder characterized mainly by brain abnormalities, large head and facial anomalies.
• 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.
• 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.
• Chromosome 10, Monosomy 10p:
• Chromosome 10, distal trisomy 10q: A rare chromosomal disorder where the distal portion of the long arm of chromosome 10 is duplicated so there is three copies of it instead of the normal two. The condition is characterized by drooping upper eyelid, short palpebral fissures and camptodactyly.
• Chromosome 10p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 10 resulting in variable abnormalities.
• Chromosome 12 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 12 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
• Chromosome 12p deletion: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 12p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 12 resulting in various abnormalities.
• Chromosome 15q duplication syndrome: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 15q, trisomy: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 17, deletion 17q23 q24: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
• Chromosome 17q, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• Chromosome 18, Monosomy 18p: A rare chromosomal disorder where a portion of chromosome 18 is missing which is characterized by mental and growth deficiencies, drooping upper eyelid and prominent ears. The type and severity of symptoms is determined by the amount of genetic material that is missing.
• Chromosome 18p minus syndrome: A rare genetic disorder where a portion of the genetic material from the short arm of chromosome18 is missing. The symptoms or severity may vary somewhat between patients.
• Chromosome 18q, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 18. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
• Chromosome 1q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 2 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 2 instead of the normal two.
• Chromosome 2, trisomy 2p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
• Chromosome 2p duplication syndrome: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
• Chromosome 2p16.1-p15 Deletion Syndrome: A rare genetic disorder characterized by a range of manifestations including mental retardation and skull and facial anomalies.
• Chromosome 3, Monosomy 3p2: A very rare chromosomal disorder involving the deletion of the end portion of short arm of chromosome 3. Symptoms vary according to the exact size and location of the deletion.
• Chromosome 6p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 6 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 7, Partial Deletion of Short Arm: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
• Chromosome 7, monosomy 7q3: A very rare chromosomal disorder involving a deletion of material from chromosome 7 at a location known as q3 which results in a wide range of abnormalities.
• Chromosome 7, partial monosomy 7p: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
• Chromosome 7p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 8 recombinant syndrome: A rare recombinant chromosomal disorder involving chromosome 8 which results in various abnormalities.
• Chromosome 8 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities.
• Chromosome 8, trisomy: A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Chromosome 8, trisomy 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
• Chromosome 8q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 8 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
• Chromosome 9, Tetrasomy 9p: A rare chromosomal disorder where there is four copies of the short arm of chromosome 9 instead of the normal two resulting in various abnormalities.
• Chromosome 9p tetrasomy syndrome: A rare chromosomal disorder where there is four copies of the short arm of chromosome 9 instead of the normal two resulting in various abnormalities.
• Chromosome 9q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 9 is deleted resulting in variable symptoms.
• Congenital Disorders of Glycosylation Type Ia: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
• Congenital SMA with arthrogryposis: Type of SMA (genetic motor neuron disease) appearing from birth
• Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
• Congenital disorder of glycosylation type 1A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
• 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.
• Cryptorchidism -- arachnodactyly -- mental retardation: A very rare syndrome characterized mainly by undescended testes, long thin fingers and mental retardation.
• Currarino-Silverman: A rare disorder characterized by bone abnormalities in the chest region.
• Cystic Hygroma: A progressive condition characterized by a sac filled with lymphatic fluid that forms in the lymphatic system, usually at the nape of the neck but sometimes in other parts of the body.
• Deformity symptoms: Various types of deformity
• Del (2) (p15-p13): A rare chromosomal disorder characterized by severe developmental delay. The observations were made in two reported cases.
• Del (2) (q34-q36): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
• Desbuquois dysplasia: A rare condition characterized by short-limbed dwarfism, characteristic facial features and skeletal abnormalities.
• Desbuquois dysplasia-like syndrome: A rare syndrome characterized by various anomalies similar to Desbuquois syndrome but there is no mental retardation, hand abnormalities or facial anomalies involved.
• Developmental problems: Physical or mental development difficulty.
• Down Syndrome: A chromosome syndrome causing physical effects and mental retardation.
• Dup (1) (q32-qter) and del (7)(q32-qter): A very rare chromosomal disorder where a portion of the long arm (q32-qter) of chromosome one is duplicated and the long arm of chromosome 7 (q32) is deleted. There have only been a couple of reported cases and symptoms may vary somewhat between patients.
• Dup (2) (p22-p21): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in the few reported cases. The manifestations linked to most genetic defects are often variable to some degree.
• Dup (3) (pter-p25): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in nine reported cases. The manifestations linked to most genetic defects are often variable to some degree.
• Dup(1) (q25-q32): A very rare chromosomal disorder where a portion of the long arm (q25-q32) of chromosome one is duplicated. The type and severity of symptoms may vary.
• Duplication 2p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 2 is duplicated so there is three copies of it rather than the normal two.
• Duplication 8q: A rare chromosomal disorder where the long arm (q) of chromosome 8 is duplicated resulting in variable abnormalities depending on the location and length of genetic material deleted.
• Dursun Syndrome: A rare syndrome characterized mainly by the association of heart anomalies, pulmonary hypertension and leukopenia (reduced number of white blood cells).
• Dysharmonic skeletal maturation -- muscular fiber disproportion: A very rare syndrome characterized mainly by abnormal bone development and muscle problems.
• Ectodermal dysplasia -- mental retardation -- CNS malformation: A rare syndrome characterized mainly by mental retardation, central nervous system disorders and skin, hair and nail abnormalities.
• Ehlers-Danlos syndrome with periventricular heterotopia: The association of a brain malformation (periventricular nodular heterotopia) with a connective tissue disorder called Ehlers-Danlos syndrome.
• Ehlers-Danlos syndrome, classic type: A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility - a combination of ED types I and II.
• Ehlers-Danlos syndrome, progeroid form: A connective tissue disorder caused by an enzyme (xylosylprotein 4-beta-galactosyl transferase) deficiency.
• Emphysema: Emphysema is a type of chronic obstructive pulmonary disease (COPD). It is defined as an abnormal, permanent enlargement of the air spaces distal to the terminal bronchioles accompanied by destruction of their walls and without obvious fibrosis.
• Endocrine-Cerebroosteodysplasia: A rare condition observed in six members from two families. The condition is severe with all affected individuals dying before, during or soon after birth. A number of the pregnancies were voluntarily terminated due to the detected malformations. Endocrine-Cerebroosteodysplasia primarily involves brain, skeletal and endocrine abnormalities.
• Eng Strom syndrome: A rare syndrome characterized by short stature and episodes of locked finger joints.
• Ethanol -- Teratogenic Agent: There is evidence to indicate that exposure to Ethanol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Ewing's sarcoma: Ewing's sarcoma is a malignant round-cell tumor. It is a rare disease in which cancer cells are found in the bone or in soft tissue. The most common areas in which it occurs are the pelvis, the femur, the humerus, and the ribs.
• FACES syndrome: A rare syndrome characterized mainly by short stature, webbed fingers and toes and skeletal abnormalities.
• FG Syndrome: A rare genetic disorder characterized by anal abnormalities, reduced muscle tone and a prominent forehead.
• FG syndrome 1: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 1, the genetic defect is located on chromosome Xq12-q21.31.
• FG syndrome 2: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 2, the genetic defect is located on chromosome Xq28.
• FG syndrome 3: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 3, the genetic defect is located on chromosome Xp22.3.
• FG syndrome 4: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 4, the genetic defect is located on chromosome Xp11.4-p11.3.
• FG syndrome 5: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 5, the genetic defect is located on chromosome Xq22.3.
• Face symptoms: Symptoms affecting the face
• Faciothoracogenital syndrome: A rare syndrome characterized by facial, chest and genital abnormalities.
• Fine-Lubinsky syndrome: A very rare syndrome characterized mainly by a short head, deafness, cataracts and mental retardation.
• Fractures: Breakage of bones
• Frank-Ter Haar syndrome: A rare genetic bone disorder characterized by skeletal abnormalities, enlarged corneas and characteristic facial abnormalities.
• Frontometaphyseal dysplasia: A rare genetic disorder characterized by craniofacial abnormalities, skeletal abnormalities, hearing problems and wasting of arm and leg muscles.
• Funnel Chest: Depression of the breast bone - sunken chest appearance. The condition is usually a congenital deformity but may occur in association with conditions such as rickets, Marfan syndrome and Poland syndrome. Severe cases may result in breathing problems or may affect heart function.
• Gloomy syndrome: A rare genetic condition which is characterized by distinctive physical features and severe growth retardation that starts during the fetal stage. Intelligence is not affected.
• Golden-Lakin syndrome: A rare syndrome characterized by a webbed neck, sunken chest, curved spine and various other abnormalities.
• Head symptoms: Symptoms affecting the head or brain
• Hemangioma: A condition which is characterized by a benign tumour cause by newly formed blood vessels
• Homocystinuria: A rare inherited metabolic disorder involving the amino acid methionine and resulting in a harmful accumulation of homocysteine in the body.
• Homocystinuria due to cystathionine beta-synthase deficiency: A rare genetic biochemical disorder where a deficiency of cystathionine beta-synthase results in high levels of methionine and homocysteine in the blood and reduced levels of cyteine in the blood. There are two subtypes of the disorder with varying manifestations. One type responds to Vitmain B6 supplementation and the other doesn't. Those who do respond to Vitamin B6 tend to have milder manifestations.
• Homocystinuria due to defect in methylation cbl e: An inherited organic acid disorder where an enzyme deficiency (methionine synthase reductase) impairs the body's ability to break down certain proteins consumed in the diet. This results in a buildup of methylmalonic acid and homocystine which results in harmful affects. It is a form of vitamin B12 deficiency.
• Homocystinuria syndrome: A rare genetic connective tissue disorder caused by an enzyme deficiency and characterized by dislocation of eye lens, malar flush and osteoporosis.
• Hunter-Mcdonald syndrome: A rare syndrome characterized mainly be short stature, characteristic facial appearance and a predisposition for developing brain tumors.
• Hypomelanosis of Ito: A rare genetic neurocutaneous disorder characterized by unusual patterns of depigmented skin and associated disorders such as seizures, psychomotor retardation and eye abnormalities.
• Ichthyosis-cheek-eyebrow syndrome: A rare genetic disorder involving sparse eyebrows, full cheeks and a skin condition characterized by fish-like scales.
• Inheritable disorders of connective tissue: Disorders that affect the connective tissue of the body that are handed down from generation to generation
• Intellectual deficit -- cataracts -- calcified pinnae -- myopathy: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
• Intellectual deficit -- multiple anomalies: A very rare syndrome characterized mainly by mental retardation and multiple birth abnormalities such as heart defects, undescended testes, curved spine and distinctive facial appearance.
• Intracranial aneurysms -- multiple congenital anomaly: A very rare syndrome characterized mainly by brain aneurysms (dilated blood vessel) and various other abnormalities.
• Jaffer-Beighton syndrome: A rare inherited syndrome characterized by loose joints, slipped vertebrae and long, thin fingers.
• Jarcho-Levin Syndrome: A rare genetic disorder characterized by spinal column abnormalities, dwarfism and a swollen abdomen as well as other anomalies.
• Juvenile osteoporosis: Osteoporosis (progressive bone loss) that occurs in children. Osteoporosis in children can be caused by certain medical conditions (e.g. diabetes, malabsorption syndromes, kidney disease, hyperthyroidism), certain medications (e.g. corticosteroids, anticonvulsants), prolonged immobility or sometimes for no detectable reason (idiopathic).
• Kaplan-Plauchu-Fitch syndrome: A very rare syndrome characterized mainly by cone-shaped skull, short stature, deafness and various facial and digital abnormalities.
• King-Denborough syndrome: A rare birth disorder characterized by musculoskeletal abnormalities and nerve muscle problems.
• Kosztolanyi syndrome: A very rare syndrome characterized mainly by severely retarded development, long thin fingers, mental retardation and skull and facial abnormalities.
• Kozlowski-Celermajer syndrome: A rare disorder characterized by congenital heart disease and spine and upper arm bone abnormalities.
• Kyphosis: Increased curvature of the thoracic spine, giving the appearance of being hunched over.
• LEOPARD Syndrome: A rare genetic disorder characterized by multiple lentigines, pulmonic stenosis, widely spaced eyes and deafness.
• Limb symptoms: Symptoms affecting the limbs
• Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules: A rare inherited disorder characterized by loss of fat under the skin, diabetes, heart muscle disease, fatty liver
• Lipoma: Tumor of fat cells usually just under the skin
• Lockwood-Feingold syndrome: A rare genetic disorder characterized mainly by arthritis, skeletal abnormalities and a lack of subcutaneous fat.
• Lujan-Fryns syndrome: A rare genetic disorder characterized by mental retardation and marfanoid habitus (features of Marfan's syndrome).
• Lumbar malsegmentation -- short stature: A very rare syndrome characterized mainly by short stature and abnormal segmentation of the vertebrae in the abdominal segment of the spine.
• Lumbar malsegmentation, short stature and facial anomalies: A rare syndrome characterized by vertebral abnormalities, short stature and facial anomalies.
• Lung fibrosis: Formation of fibrous tissue in the lung
• Lung inflammation: Inflammation that occurs in the lung
• MPS-IV (Morquio Disease): A condition which is characterized by biochemically distinct mucopolysaccharidosis
• Marden-Walker Syndrome: A rare genetic disorder characterized by blepharophimosis, joint contractures and fixed facial expression.
• Marfan Syndrome type 2: A very rare syndrome characterized by some of the skeletal and heart blood vessel abnormalities seen in Marfan syndrome but there are no eye abnormalities. The genetic cause of the two types is different.
• Marfan syndrome: A genetic connective tissue disorder involving a defect of chromosome 15q21.1 which affects the production of the fibrillin needed to make connective tissue.
• Marfan's syndrome: A genetic connective tissue disorder involving a defect of chromosome 15q21.1 which affects the production of the fibrillin needed to make connective tissue.
• Marfan-Like syndrome: Any congenital condition with a group of symptoms that resembles Marfan syndrome but doesn't quite fulfill all the criteria. Marfan syndrome is a connective tissue disorder that affects the skeleton, lungs, eyes, heart and blood vessels.
• Marfanoid -- mental retardation syndrome autosomal: A very rare syndrome characterized mainly by psychomotor retardation, a flat face and some symptoms of Marfan syndrome (long arms and legs, tall stature, reduced skin fat and poor muscle tone).
• McDonough syndrome: A very rare syndrome characterized mainly by mental retardation and multiple birth abnormalities such as heart defects, undescended testes, curved spine and distinctive facial appearance.
• Medrano-Roldan syndrome: A very rare syndrome characterized mainly by mental retardation, reduced muscle tone and increased skin pigmentation.
• Melnick-Needles syndrome: A rare genetic bone disorder characterized by skeletal abnormalities and characteristic facial abnormalities.
• Mental retardation -- coloboma -- slimness: A very rare syndrome characterized mainly by mental retardation, retinal coloboma and a slim build.
• Mental retardation cataracts calcified pinnae myopathy: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
• Mental retardation, Buenos Aires type: A very rare syndrome characterized mainly by mental retardation, physical retardation, unusual facial appearance and heart and kidney defects.
• Mental retardation, X-linked syndromic 14: A syndromic form of mental retardation which also involves variable features including poorly muscled build and facial anomalies. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms. The genetic defect is located on chromosome Xq25-q26.
• Mental retardation, X-linked, Brooks type: A rare syndrome characterized by mental retardation, unusual facial appearance and retarded growth.
• Mental retardation, X-linked, syndromic, due to JARID1C mutation: A rare disorder characterized by mental retardation, spasticity and other variable features. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms. The disorder is caused by a defect on the JARID1C gene on chromosome Xp11.22-p11.21.
• Metatrophic dysplasia: A very rare form of dwarfism involving short limbs and a long trunk. Less than 100 cases of the condition have been reported.
• Methotrexate -- Teratogenic Agent: There is evidence to indicate that exposure to Methotrexate during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Microcephaly -- cervical spine fusion anomalies: A very rare syndrome characterized mainly by a small head and fused neck vertebrae.
• Misoprostol -- Teratogenic Agent: There is evidence to indicate that exposure to Misoprostol during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Morquio syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (galactosamine-?-sulfate - type A, ? galactosidase - type B) needed to break it down. The symptoms are variable with type A and B being clinically indistinguishable.
• Morquio syndrome type A: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (galactosamine-?-sulfate) needed to break it down.
• Morquio syndrome, type B: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (? galactosidase) needed to break it down.
• Mouth symptoms: Symptoms of the mouth or oral area.
• Multicore disease: A nonprogressive congenital muscle disease which mainly involves weakness of the proximal muscles. The severity of symptoms is variable.
• Multiple Sulfatase Deficiency: A condition characterized by multiple sulfatase deficiencies
• Multiple endocrine neoplasia type 2b: A rare genetic disorder characterized by multiple tongue neuromas and medullary thyroid carcinoma.
• Multiple synostosis syndrome: A rare genetic disorder characterized by multiple bone fusions involving the face, limbs and middle ear.
• Musculoskeletal symptoms: Symptoms affecting muscles or bones of the skeleton.
• Myeloma: A primary malignancy of the plasma cells
• N syndrome: A rare genetic disorder characterized by mental and physical retardation, eye abnormalities, retarded growth, hearing impairment and a high risk of developing cancers, particularly leukemia. It is an extremely rare condition originally described in two brothers.
• Nephroblastomatosis -- fetal ascites -- macrosomia -- wilms tumor: A rare condition characterized by kidney abnormalities, macroxomia, endocrine pancreas abnormalities, large fetus and mental retardation.
• Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor: A rare condition characterized by kidney abnormalities, macroxomia, endocrine pancreas abnormalities, large fetus and mental retardation.
• Neurofaciodigitorenal syndrome: A very rare syndrome characterized by brain problems, mental retardations, kidney and limb defects as well as a range of other physical abnormalities.
• Neurofibromatosis: Nerve disorders often leading to tumors on nerves.
• Neurofibromatosis-Noonan syndrome: A rare disorder where the patients has symptoms of neurofibromatosis (nerve tumors) and Noonan syndrome (short stature, bleeding problems, heart defect, unusual facial features, skeletal anomalies, webbed neck).
• Nonkeratan-sulfate-excreting Morquio syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of certain enzymes needed to break it down. This disorder is distinguished form other similar conditions by the fact that no keratosulfate is excreted in the urine.
• Noonan Syndrome: A rare genetic disorder characterized by a webbed neck, chest deformity, undescended testes and pulmonic stenosis.
• Noonan-like syndrome: A very rare syndrome characterized mainly by heart problems, facial anomalies and a sunken chest.
• Oculopalatocerebral syndrome: A rare inherited syndrome characterized mainly by short stature, small head, mental retardation, cleft palate and eye problems.
• Ossification anomalies -- psychomotor development: A rare syndrome characterized by reduced mineralization of the skull bones and other skeletal anomalies as well as psychomotor retardation.
• Ossification anomalies -- psychomotor development delay: A rare syndrome characterized by poor mineralization of skull bones, reduced muscle tone, thin long bones and various other problems.
• Ossified Ear cartilages with Mental deficiency, Muscle Wasting and Bony Changes: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
• Osteochondroma: A bone development abnormality characterized by the development of a benign bone tumor that occurs on the ends of long bones. Symptoms, if any, are determined by the location and size of the tumor. The tumor can occur singly or in multiples and in rare instances the tumors may become malignant.
• Osteomyelitis: An infection that occurs in bone
• Osteopetrosis lethal: A severe, lethal form of the brittle bone condition called osteopetrosis.
• Osteosarcoma: Osteosarcoma is the most common type of malignant bone cancer, accounting for 35% of primary bone malignancies. There is a preference for the metaphyseal region of tubular long bones. 50% of cases occur around the knee.
• Oto-Palatal-digital syndrome: A very rare syndrome characterized a variety of abnormalities including skeletal anomalies, distinctive face and cleft palate. There are two types of the disorder (type 1 and 2) with type 2 being more severe.
• Oto-Palato-digital syndrome type 1: A rare genetic disorder characterized by deafness, cleft palate, broad fingers and toes and short nails.
• Oto-palato-digital syndrome, type 2: A rare genetic disorder characterized by head, face, mouth and bone abnormalities.
• Otopalatodigital Syndrome Type I: A rare genetic disorder characterized by ear, palate, skull, face, finger, toe and other skeletal abnormalities. Type 1 is a milder form of the condition than type 2. Males tend to have more severe symptoms than females who may exhibit only facial anomalies.
• Partial 7p Monosomy: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
• Pectus carinatum: An outward protrusion of the chest where the sternum is pressed outward.
• Pectus excavatum: An abnormal development of the chest in which the chest has a caved in appearance or sunken appearance.
• Pectus excavatum macrocephaly dysplastic nails: A rare syndrome characterized mainly by a sunken chest, large head and abnormal nails.
• Penoscrotal transposition: A very rare malformation where the penis and scrotum completely or partially swap positions. Other abnormalities are also usually associated.
• Peptidic growth factors deficiency: A very rare syndrome characterized mainly by diabetes, skin abnormalities, small jaw and muscle contractures.
• Perinatal hypophosphatasia: An inherited bone disorder due to an inborn error of metabolism characterized by a severe deficiency of alkaline phosphate which results in death before or within days of birth.
• Pierre Robin sequence with pectus excavatum and rib and scapular anomalies: A rare syndrome characterized mainly by a sunken chest, Pierre Robin sequence and rib and shoulder blade abnormalities.
• Pilotto syndrome: A very rare syndrome characterized mainly by congenital heart disease, cleft lip and palate, scoliosis, short stature and mental retardation.
• Poland Syndrome: A rare genetic disorder characterized by hand syndactyly and abnormality of one chest muscle.
• Primrose Syndrome: A very rare syndrome characterized mainly by mental retardation, cataracts, muscle disease and calcified ear cartilage. The muscle wasting starts in the lower legs and eventually involves the small hand muscles.
• Progressive spinal muscular atrophy: A group of inherited motor neuron diseases involving progressive muscle weakness and wasting due to degeneration of motor neurons in the spinal cord. The severity of symptoms and survival varies depending on the particular form of the condition. Death can occur as early as infancy whereas some forms allow survival into adulthood.
• Pseudoxanthoma elasticum, forme fruste: An inherited systemic disease of connective tissue involving progressive calcification and degeneration of elastic fibers throughout the body, including the skin, eyes and cardiovascular system.
• Pterygium syndrome multiple dominant type: A very rare syndrome characterized by joint contractures, finger webbing, difficulty fully opening mouth and scoliosis.
• Pulmonary cystic lymphangiectasis: A rare congenital condition where the lungs fail to develop normally. The disorder is characterized by the presence of dilated lymph ducts throughout the lungs.
• Pulmonary lymphangiectasia, congenital: A rare congenital condition where the lungs fail to develop normally. The disorder is characterized by the presence of dilated lymph ducts throughout the lungs.
• Rickets: A condition that affects the bones due to vitamin D deficiency
• SCARF syndrome: A rare syndrome characterized mainly by skeletal abnormalities, loose skin, premature fusion of skull bones, ambiguous genitalia, psychomotor retardation and facial abnormalities.
• Schwartz-Jampel Syndrome: A rare genetic disorder characterized by myotonia, blepharophimosis and joint limitation.
• Scoliosis: A condition which is characterized by lateral curvature of the spine
• Seven point syndrome: A specific group of deformities that is associated with infantile scoliosis.
• Short stature locking fingers: A rare syndrome characterized by short stature and episodes of locked finger joints.
• Shoulder and thorax deformity, congenital heart disease: A very rare syndrome characterized by shoulder and thorax abnormalities and congenital heart disease.
• Simpson Dysmorphia Syndrome:
• Simpson-Golabi-Behmel syndrome: A rare genetic disorder characterized by accelerated growth and other defects.
• Simpson-Golabi-Behmel syndrome, type 1 (SGBS1): A rare genetic disorder characterized by accelerated growth, a peculiar face and other defects.
• Skeletal dysplasia -- mental retardation: A rare recessively inherited disorder characterized mainly by mental retardation, a small head, arthrogryposis (joint contractures), cleft palate and various other abnormalities.
• Skeletal symptoms: Symptoms affecting the skeletal system such as the bones.
• Smith-Martin-Dodd syndrome: A very rare syndrome characterized mainly by small eyes, a hernia and a heart defect (tetralogy of Fallot).
• Spinal muscular atrophy, type I, with congenital bone fractures: A group of inherited motor neuron diseases involving progressive muscle weakness and wasting due to degeneration of motor neurons in the spinal cord. Bone fractures also occur in newborn infants.
• Split hand split foot mandibular hypoplasia: A very rare condition characterized by a split hand or foot deformity, kidney abnormalities and underdeveloped lower jaw.
• Spondyloepimetaphyseal dysplasia with multiple dislocations: A very rare syndrome characterized by abnormal bone growth and multiple joint dislocations.
• Spondyloepiphyseal dysplasia -- brachydactyly and distinctive speech: A rare disorder characterized by an unusual voice, characteristic facial appearance and various skeletal abnormalities such as short hands, feet and digits.
• Spondyloepiphyseal dysplasia, congenita: A rare genetic bone growth disorder characterized by prenatal growth deficiency, myopia and short trunk.
• Spondylometaphyseal dysplasia, Kozlowski type: A rare genetic disorder characterized by reduced calcification of the spine and pelvis resulting in short stature.
• Sternal cleft: A rare birth defect where there is a cleft or a groove in the sternum which is the bone in the middle of the chest wall that joins the two sides of the rib cage. The cleft may be partial or complete.
• Stickler Syndrome: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities.
• Stickler Syndrome, type I: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities. Type 1 is caused by a genetic defect on chromosome 12q13.11-q13.2
• Stickler Syndrome, type II: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and eye and ear abnormalities. Type 2 is caused by a genetic defect on chromosome 1p21
• Stickler Syndrome, type III: A rare genetic disorder characterized by joint problems, distinctive facial characteristics and ear abnormalities. Type 3 is caused by a genetic defect on chromosome 6q21.3. Type 3 doesn't involve any of the eye problems that occur in type 1 and 2.
• Stickler's syndrome: A condition which is characterized by a hereditary progressive arthro-ophthalmopathy
• Sulbactam -- Teratogenic Agent: There is evidence to indicate that exposure to Sulbactam during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
• Sulfatidosis juvenile, Austin type: A very rare metabolic disorder where all the sulfatase enzymes are impaired resulting in a variety of physical and developmental abnormalities.
• Swollen bone: Enlarged, swollen, or misshapen bones
• Thrombocytopenia -- Robin sequence: A very rare syndrome characterized by a variety of abnormalities such as short stature, unusual hair, reduced blood platelets, heart defects and tooth enamel anomaly.
• Trigonocephaly -- bifid nose -- acral anomalies: A rare syndrome characterized mainly by a prominent triangular shaped forehead, short head, bulbous nose, small jaw, large mouth, poor muscle tone and foot abnormalities.
• Turner Syndrome: Rare chromosome syndrome with one X but no second X or Y chromosome.
• Unusual facies, hypotonia, mental retardation and radioulnar synostosis: A very rare syndrome characterized by unusual facial appearance, reduced muscle tone, mental retardation and fused forearm bones.
• Unusual facies, oligodontia and precocious choroid calcifications: A rare syndrome characterized mainly by an unusual facial appearance, missing teeth and calcification of part of the brain called the choroid plexus.
• Unusual facies, short webbed neck, mental retardation, short stature: A rare syndrome characterized by an unusual facial appearance, short webbed neck, mental retardation and short stature
• Warburton Anyane Yeboa syndrome: A syndrome that is characterised by the occurrence of aneuploidy that can be manifested as monosomies or trisomies
• Weaver Syndrome: A syndrome that is considered a variant of the Marshall-Smith syndrome
• Wolcott-Rallison syndrome: A very rare genetic condition characterized primarily by the onset of diabetes mellitus during infancy and epiphyseal dysplasia (abnormal joint development).
• X chromosome, monosomy Xp22 pter: A condition that is characterised by the occurrence of only one X chromosome in the genotype of an individual
• X chromosome, monosomy Xq28: A condition that is characterised by the occurrence of only one X chromosome in the genotype of an individual
• Xylosylprotein 4-beta-galactosyltransferase (XGPT) deficiency: A variant of the connective tissue disorder called Ehlers-Danlos. It is caused by a deficiency of galactosyltransferase I.
• Zori Stalker Williams syndrome: A condition that is characterised by deformities of the head, chest and nails

Conditions listing medical symptoms: Chest deformity:

The following list of conditions have 'Chest deformity' or similar listed as a symptom in our database. This computer-generated list may be inaccurate or incomplete. Always seek prompt professional medical advice about the cause of any symptom.

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