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Symptoms » Syndactyly » Glossary
 

Glossary for Syndactyly

Medical terms related to Syndactyly or mentioned in this section include:

  • 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.
  • 2q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Aarskog Syndrome: A rare genetic condition characterized by facial, hand, genital and growth abnormalities.
  • Acetaminophen -- Teratogenic Agent: There is strong evidence to indicate that exposure to Acetaminophen 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.
  • Ackerman syndrome: An extremely rare condition characterized primarily by glaucoma, upper lip deformity and abnormal tooth roots.
  • Acro-reno-ocular syndrome: A disorder characterized by eye abnormalities, kidney defects and abnormalities of the arm and hand bones.
  • Acrocephalopolydactyly II: A rare genetic disorder characterized by head, hand and genital anomalies as well as mental retardation.
  • Acrocephalosyndactyly II: A rare inherited disorder characterized primarily by premature closure of skull bones, fusion of fingers and toes and eye and face abnormalities.
  • Acrofacial dysostosis atypical postaxial: A rare genetic disorder characterized by absence of some fingers and toes and characteristic facial features.
  • Apert syndrome: A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused together.
  • Aphalangia -- syndactyly -- microcephaly: A very rare syndrome characterized by the absence of one or more bones of the fingers and toes, a small head and fusion of fingers.
  • Arm symptoms: Symptoms affecting the arm
  • Arterial occlusive disease, progressive -- hypertension -- heart defects -- bone fragility -- brachysyndactyly: A rare syndrome characterized by narrowing or blockage of a number of arteries (in the kidneys, abdomen, brain and heart) as well as fragile bones, heart defects and finger abnormalities. Fractures and high blood pressure often start during the first years of life.
  • Atelosteogenesis Type III: A very rare inherited skeletal ossification disorder. Unlike types I and II, survival past infancy is possible in type III.
  • Bardet-Biedl Syndrome: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities.
  • Bartsocas Papa syndrome: A rare condition characterized by webbing of skin as well as various other physical and mental abnormalities.
  • Bloom Syndrome: A rare genetic inherited genetic disorder which mainly affects Ashkenazic Jewish people and is characterized by short stature, malar hypoplasia, and a telangiectatic erythema of the face.
  • Budesonide -- Teratogenic Agent: There is strong evidence to indicate that exposure to Budesonide 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.
  • C Syndrome: A rare inherited disorder characterized by a triangular-shaped head, facial anomalies, joint contractures and loose skin.
  • Carpenter syndrome: A rare genetic disorder characterized by premature closing of skull bones, craniofacial abnormalities, heart defects, growth retardation and other disorders.
  • Chromosome 13 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 13 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 13, Partial Monosomy 13q: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 13q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 15 inverted duplication: A rare chromosomal disorder involving an duplicated section of chromosome 15 which is reversed end-to-end resulting in various abnormalities.
  • Chromosome 17 ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 17 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 17p, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
  • Chromosome 18, Tetrasomy 18p: A rare chromosomal disorder where there are four copies of short arm of chromosome 18 instead of the normal two which results in various genital, kidney, digital, head and face abnormalities.
  • Chromosome 19 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 19 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 19p duplication syndrome: A rare chromosomal disorder where the short arm of chromosome 19 is duplicated resulting in various abnormalities.
  • Chromosome 1q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 1 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 22 monosomy syndrome: A rare chromosomal disorder where there is only one copy of chromosome 22 in the body cells instead of two which results in various physical and mental abnormalities.
  • Chromosome 22 trisomy mosaic: A rare chromosomal disorder where three copies of chromosome 22 are present in some of the body's cells instead of the normal two. Severity of symptoms is determined by how many cells have the extra chromosomal material.
  • Chromosome 22q deletion syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is deleted resulting in various abnormalities.
  • Chromosome 22q13 deletion: A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13 location which results in various abnormalities.
  • Chromosome 22q13.3 deletion syndrome: A very rare chromosomal disorder where a portion of chromosome 22 is missing at the q13.3 location which results in various abnormalities.
  • Chromosome 3, trisomy 3p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 3 is duplicated so there is three copies of it rather than the normal two.
  • Chromosome 4q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 5q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 5 is deleted resulting in various abnormalities.
  • Chromosome 5q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 5 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • 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 6q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 6 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • Chromosome 6q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 6 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Cold-induced sweating syndrome 2: A rare disorder characterized mainly by the inability to sweat in hot weather and excessive sweating on exposure to cold weather.
  • Craniostenosis with congenital heart disease mental retardation: A very rare disorder characterized mainly by premature fusion of the sagittal skull bones, mental retardation and heart disease that is present at birth. The disorder generally involves other variable features.
  • Dandy-Walker Syndrome: A congenital brain malformation characterized by increased fluid in the brain.
  • De Lange 1: A rare disorder involving a variety of congenital abnormalities including retarded growth, behavioral problems, characteristic facial features and upper limb abnormalities.
  • Dystrophic epidermolysis bullosa: A rare inherited skin blistering condition which can vary in severity depending on how it is inherited. Recessively inherited are more severe than dominantly inherited cases and can cause the loss of patches of skin and scarring which can impair limb function.
  • EEC syndrome: A rare genetic disorder characterized by absence of fingers and toes, ectodermal dysplasia and cleft lip or cleft palate.
  • Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate: A rare inherited condition characterized by abnormalities of the fingers, toes, hair, glands, eyes anr urinary tract.
  • Edwards Syndrome: A rare inherited genetic disorder where a portion of chromosome 18 is duplicated. Most affected individuals die during the fetal stage and surviving infants have serious defects and tend to live for only a short while.
  • 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.
  • Fanconi syndrome: Fanconi syndrome that occurs secondary to the accumulation of crystals of light-chain immunoglobulin molecules in the kidney tubules which affects their functioning.
  • Fanconi's anemia: Fanconi's anemia is a rare inherited blood disorder characterized by the inability of the bone marrow to produce blood cells. An increased incidence of leukemias and other cancers is associated with this condition and various skeletal abnormalities and other birth defects may also be present. The condition is present at birth but symptoms of the blood problems are often not evident until later in childhood - in rare cases, the condition may not be diagnosed until adulthood.
  • Fetal aminopterin syndrome: A rare disorder which produces multiple abnormalities and results from a failed abortion attempt using the drugs aminopterin and methotrexate.
  • Filippi Syndrome: A very rare disorder involving finger and toe abnormalities, a small head, characteristic face and physical and mental retardation. The number of digits involved and extent of webbing between digits is variable as are many of the other features.
  • Finger symptoms: Symptoms affecting any fingers
  • Focal dermal hypoplasia: A rare genetic disorder characterized by bone, skin, teeth and pigmentation abnormalities as well as asymmetry of the face, trunk and extremities.
  • Foot symptoms: Symptoms affecting one or both feet
  • Fraser Syndrome: A rare disorder characterized by the absence of one or both eyes as well as any of a number of other possible congenital abnormalities. Up to half of cases are stillborn.
  • Gordon Syndrome: A genetic musculoskeletal disorder characterized mainly by camptodactyly, cleft palate and club foot. The type and severity of symptoms is variable.
  • Greig Cephalopolysyndactyly Syndrome: A rare genetic disorder characterized by premature closing of skull bones and craniofacial abnormalities, finger and toe abnormalities.
  • Hand symptoms: Symptoms affecting the hand
  • Head symptoms: Symptoms affecting the head or brain
  • Holt-Oram Syndrome: A rare inherited disorder characterized by hand, arm and heart abnormalities. Bone abnormalities usually affect the left arm more than the right and occasionally only one arm and/or hand is affected.
  • 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.
  • Hypotrichosis, syndactyly and retinal degeneration: A rare syndrome characterized by reduced hair, syndactyly and retinal degeneration. The hand and finger anomalies are variable.
  • Incontinentia Pigmenti: A rare genetic skin pigmentation disorder characterized by eye, teeth, bone, nail and hair malformations as well as central nervous abnormalities and mental deficiency.
  • Jarcho-Levin Syndrome: A rare genetic disorder characterized by spinal column abnormalities, dwarfism and a swollen abdomen as well as other anomalies.
  • Klippel-Trenaunay Syndrome: A condition which occurs with arthritis and resembles the symptoms of general paresis.
  • Larsen syndrome, recessive type: A congenital, genetic disorder characterized by many abnormalities including joint dislocations, bone abnormalities and an unusual face.
  • Lathosterolosis: A very rare disorder where an enzyme (sterol C5-desaturase) deficiency prevents the normal synthesis of cholesterol in the body. The deficiency causes various malformations, mental retardation and liver disease.
  • Leg symptoms: Symptoms affecting the leg
  • Lenz Majewski hyperostotic dwarfism: A rare genetic disorder characterized by dense, thick bones and symphalangism.
  • Limb symptoms: Symptoms affecting the limbs
  • Lower leg symptoms: Symptoms affecting the lower legs, calves and shins.
  • Miconazole -- Teratogenic Agent: There is evidence to indicate that exposure to Miconazole 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 syndactyly brachymesophalangy: A very rare syndrome characterized mainly by the association of a small head, syndactyly and short middle bones in digits.
  • Mohr syndrome: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger abnormalities.
  • Multiple pterygium syndrome: A very rare disorder characterized by webbing of various parts of the body, contractures, short stature, fusion of neck vertebrae and facial anomalies.
  • Multiple synostosis syndrome: A rare genetic disorder characterized by multiple bone fusions involving the face, limbs and middle ear.
  • Oculodentodigital syndrome: A rare genetic disorder characterized by small eyes, underdeveloped tooth enamel and permanent flexion of one or more finger joints.
  • Oculodigitoesophagoduodenal syndrome: A very rare syndrome characterized mainly by a small head and gastrointestinal, eye, finger, and toe abnormalities.
  • Oral facial digital syndrome: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger abnormalities.
  • Orofaciodigital syndrome type1: A rare genetic disorder characterized by variable malformations of the face, digits and inside the mouth. Type 1 is distinguished from the other types of this condition by the presence of polycystic kidneys and a X-linked dominant inheritance.
  • Oromandibular-limb hypogenesis spectrum: A rare disorder characterized by a spectrum of disorders.
  • Oto-palato-digital syndrome, type 2: A rare genetic disorder characterized by head, face, mouth and bone abnormalities.
  • Pallister-Hall Syndrome: A rare genetic disorder characterized by hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and polydactyly.
  • Pfeiffer syndrome: A rare genetic disorder where some of the skull bones fuse too early which affects the size and shape of the skull and face. Thumb and toe abnormalities are also present. There are three types of Pfeiffer syndrome with varying degrees of severity.
  • Phenylketonuria: A metabolic disorder where there is a deficiency of the enzyme phenylalanine hydroxylase which leads to a harmful buildup of the phenylalanine in the body. Normally the phenylalanine is converted into tyrosine. The severity of the symptoms can range from severe enough to cause mental retardation to mild enough not to require treatment. Severity is determined by the level of impairment of enzyme activity of phenylalanine hydroxylase.
  • Poland Syndrome: A rare genetic disorder characterized by hand syndactyly and abnormality of one chest muscle.
  • Polysyndactyly type Haas: A malformation where all the fingers are webbed and there is an extra digit. The webbing did not involve any bone fusion. The feet may have variable degrees of webbing and an extra toe may be present.
  • Popliteal pterygium syndrome: A rare genetic disorder characterized by cleft palate, pits in lower lip and popliteal webs.
  • Potocki-Shaffer syndrome: A very rare syndrome caused by the absence of a portion of chromosome 11p and characterized mainly by bone growths, enlarged fontanel and parietal foramina.
  • Reese-Ellsworth syndrome: A rare disorder characterized by iridogoniodysgenesis (underdeveloped iris and fluid channels in the eye) as well as mental retardation, cleft palate, syndactyly and muscle disease.
  • Roberts Pseudothalidomide Syndrome:
  • Roberts-SC Phocomelia: A rare genetic disorder characterized by limb deformities, midfacial defects and severe growth deficiency.
  • Robinow Sorauf syndrome: A rare disorder characterized by facial and dental abnormalities as well as a partial or complete duplication of the end bone of the big toe.
  • Saethre-Chotzen Syndrome: A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include brachycephaly, ear deformities as well as craniofacial, finger and bone abnormalities.
  • Sclerosteosis: A rare genetic disorder characterized by syndactyly and thickening and overgrowth of bone.
  • Scott Craniodigital Syndrome: A condition which is characterized by deformities of the cranium and fingers
  • Septo-Optic Dysplasia: A rare birth defect characterized by impaired vision and pituitary deficiency.
  • Short rib-polydactyly syndrome, Saldino-Noonan type: A rare genetic disorder characterized by short stature, bone formation abnormalities, heart defects and other deformities.
  • Skeletal symptoms: Symptoms affecting the skeletal system such as the bones.
  • Summitt syndrome: A very rare genetic disorder abnormalities of the head, hands and feet as well as obesity.
  • Syndactyly in children:
  • Syndactyly type 1: A birth malformation involving the complete or partial webbing between the third and fourth fingers or the second and third toes. The toes and fingers may be involved together. There are four subtypes of the disorder each with varying combinations of involvement.
  • Syndactyly, type 2: A birth defect involving webbing between the 3rd and 4th fingers as well as duplication of all or some of the fourth digit within the webbed tissue. The foot may also be involved with webbing between the 4th and 5th toe with an extra 5th toe in the webbed tissue.
  • Timothy syndrome: A rare syndrome characterized by webbed fingers and a heart defect. Most affected individuals die during early childhood or infancy.
  • Toe symptoms: Symptoms affecting the toes
  • Townes-Brocks Syndrome: A rare condition characterized by anal, hand, foot and ear abnormalities.
  • Trichorhinophalangeal Syndrome Type II:
  • Trichorhinophalangeal syndrome type 2: A rare genetic disorder characterized by bony growths, bulbous nose, distinctive facial features and loose excess skin during infancy.
  • Trisomy 6: A rare chromosomal disorder involving the duplication of chromosome 6 which results in variable symptoms including mental retardation, retarded growth, facial anomalies and various other abnormalities. Full Trisomy 6 is results in spontaneous abortion whereas various degrees of Trisomy 6q can result in syndromes of variable severity depending on the size of the duplication.
  • VATER association: An association of congenital abnormalities that consists of vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia
  • Waardenburg syndrome, type 3: A rare syndrome involving deafness, pigmentation and musculoskeletal abnormalities
  • Winter Shortland Temple syndrome: A congenital syndrome characterised by multiple birth defects and dysmorphic features
  • Zlotogora syndrome: A condition that is characterised by facial dysmorphism and psychiatric problems

Conditions listing medical symptoms: Syndactyly:

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