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Symptoms » Pectus excavatum » Glossary
 

Glossary for Pectus excavatum

Medical terms related to Pectus excavatum 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.
  • 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.
  • Aarskog Syndrome: A rare genetic condition characterized by facial, hand, genital and growth abnormalities.
  • 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.
  • 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.
  • 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.
  • 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.
  • Bannayan-Zonana syndrome: A rare genetic disorder characterized by macrocephaly, intestinal polyposis, pigmentation of penis and benign tumor-like growths.
  • 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.
  • 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.
  • 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 deformity: Malformation or distortion the normal appearance of teh chest.
  • 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.
  • 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 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 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 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.
  • Craniofrontonasal syndrome Teebi type: A very rare syndrome characterized primarily by widely spaced eyes and other head and face abnormalities.
  • 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.
  • 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.
  • 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.
  • 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: An inherited disorder of the connective tissue causing it to become weak and fragile. Connective tissue is found in skin, muscles, tendons and ligaments and hence all of these may be affected by weakness
  • Ehlers-Danlos syndrome: An inherited disorder of the connective tissue causing it to become weak and fragile. Connective tissue is found in skin, muscles, tendons and ligaments and hence all of these may be affected by weakness
  • 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, progeroid form: A connective tissue disorder caused by an enzyme (xylosylprotein 4-beta-galactosyl transferase) deficiency.
  • Eng Strom syndrome: A rare syndrome characterized by short stature and episodes of locked finger joints.
  • FACES syndrome: A rare syndrome characterized mainly by short stature, webbed fingers and toes and skeletal abnormalities.
  • Face symptoms: Symptoms affecting the face
  • Faciothoracogenital syndrome: A rare syndrome characterized by facial, chest and genital abnormalities.
  • Fragile-X Syndrome: A rare inherited characterized by various physical anomalies as well as mental retardation. The symptoms are milder in females.
  • Frank-Ter Haar syndrome: A rare genetic bone disorder characterized by skeletal abnormalities, enlarged corneas and characteristic facial abnormalities.
  • 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.
  • 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
  • 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.
  • 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.
  • 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.
  • 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.
  • Kosztolanyi syndrome: A very rare syndrome characterized mainly by severely retarded development, long thin fingers, mental retardation and skull and facial abnormalities.
  • 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
  • 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.
  • Marden-Walker Syndrome: A rare genetic disorder characterized by blepharophimosis, joint contractures and fixed facial expression.
  • 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.
  • 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.
  • 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, 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.
  • 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.
  • 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.
  • 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.
  • 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 Type 1 (NF-1): Neurofibromatosis Type 1 is a genetic disorder often leading to the development of nerve tumors. The condition is also characterized by skin pigmentation abnormalities.
  • 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).
  • 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.
  • Oral facial digital syndrome, type 4: A rare inherited disorder characterized by facial, digital and oral abnormalities. Type IV is differentiated from the other types by the presence of severe shinbone deformity.
  • Orofaciodigital syndrome, type 3: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger, teeth and eye abnormalities.
  • 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.
  • Osteogenesis imperfecta: Weak bones ("brittle bone disease") and loose joints
  • 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 excavatum macrocephaly dysplastic nails: A rare syndrome characterized mainly by a sunken chest, large head and abnormal nails.
  • Peptidic growth factors deficiency: A very rare syndrome characterized mainly by diabetes, skin abnormalities, small jaw and muscle contractures.
  • 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.
  • 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.
  • Prune belly syndrome: A hereditary condition affecting only males and involving a deficiency of abdominal muscles, urinary tract malformations, undescended testes and occasionally underdeveloped lungs.
  • 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
  • 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.
  • 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.
  • 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.
  • 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.
  • 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.
  • Sunken chest in children:
  • 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, 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
  • 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: Pectus excavatum:

The following list of conditions have 'Pectus excavatum' 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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