Glossary for Male reproductive symptoms

Medical terms related to Male reproductive symptoms or mentioned in this section include:

11q Partial Trisomy: A very rare genetic disorder caused by a duplication of part of chromosome 11q. The characteristic symptoms of the disorder are delayed growth before and after birth, mental retardation (varying severity) and skull and facial defects. The type and severity of symptoms that can occur are variable.
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.
46,XX Gonadal dysgenesis epibulbar dermoid: A rare disorder characterized by gonad abnormalities and an eye disorder called epibulbar dermoid.
46,XX testicular DSD: A sex chromosome disorder in males which affects gonadal development and causes infertility. Males have XX chromosomes instead of the normal XY.
46,XX testicular disorder of sex development: A sex chromosome disorder in males which affects gonadal development and causes infertility. Males have XX chromosomes instead of the normal XY.
49,XXXXY syndrome: A rare sex chromosome abnormality where there are three extra copies of the X chromosome.
ACPS III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
APECED Syndrome: APECED is a recessively inherited genetic disease characterized by the presence of two of the following three conditions: impaired parathyroid function, yeast infection (candidiasis) and impaired adrenal gland function (Addison's disease). It is an autoimmune disease resulting from a genetic defect. The body's immune system malfunctions and attacks it's own body tissues.
Ablepharon macrostomia syndrome: A rare disorder involving a number of mainly physical abnormalities.
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.
Acrocephalopolydactyly -- Cardiac Disease -- Ear, Skin and Lower Limb Defects: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
Acrocephalopolysyndactyly type III: A rare genetic condition characterized by head and digital anomalies as well as other abnormalities.
Acrofacial dysostosis Catania form: One of a group of disorders characterized by defective limb and facial development. The Catania form is very rare.
Acute epididymitis:
Acute herpes-like penile ulcers: formation of vesicles similar to the presentation in herpes
Acute prostate blockage like symptoms: conditions which cause acute symptoms similar to that when there is a blockage to prostate secretions
Acute prostate pain symptoms: conditions which cause acute pain similar to that of pain due to a prostatic pathology
Acute prostate symptoms: acute symptoms related to the prostate includes painful micturition, hestiatancy and frequency of micturition
Acute prostate-related urinary dribbling: weak urinary stream
Acute prostate-related urinary symptoms: Symptoms include urinary frequency, urgency, urgency incontinence, voiding at night (nocturia), weak urinary stream, hesitency (needing to wait for the stream to begin), intermittency (when the stream starts and stops intermittently), straining to void, dysuria (burning sensation in the urethra), and dribbling
Acute prostate-related weak urinary stream: weak urinary stream
Acute prostatitis: An acute condition which affects the prostate which is the result of infammation
Acute testicular pain in children: Acute testicular pain in children is the sudden appearance of pain or discomfort in the testicle or testicles of a child.
Acute torsion of testis:
Adrenal Cortex Diseases: Diseases of the adrenal cortex. Examples includes Addison's disease, Cushing's syndrome and adrenal fatigue.
Adrenal hypoplasia congenital, X-linked: A genetic disorder which affects the body tissues that produce hormones. It is characterized by underdeveloped adrenal glands which results adrenal insufficiency and hypogonadotrophic hypogonadism.
Adrenoleukodystrophy: A rare hereditary metabolic disease that only occurs in male children and is characterized by adrenal atrophy and extensive cerebral demyelination causing progressive loss of mental functioning, aphasia, apraxia and sometimes blindness. The patient usually dies within 5 years.
Adverse reaction to chemical -- 1,2-Dibromo-3-Chloropropane: 1,2-Dibromo-3-Chloropropane is a chemical used in soil fumigants and as a nematocide for various field crops. Commercial examples include Fumagon, Nemagon, Fumazone, Nemapax, Nemafume. Some people can suffer an adverse reaction to the chemical. The severity of symptoms varies depending on the amount of chemical involved and the route of exposure.
Agnathia-holoprosencephaly-situs inversus: A very rare disorder characterized by a small or absent jaw, developmental brain defect and internal organs situated on the wrong side of the body (situs inversus). The severity and range of symptoms is variable.
Al Awadi syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis.
Al Awadi-Raas-Rothschild syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis. The exact type and severity of symptoms is variable. Most cases appear to occur in cases where the parents were related.
Alagille syndrome: A genetic disorder affecting the liver and characterized by the absence of some or all of the liver bile ducts that transport bile within the liver.
Alopecia -- hypogonadism -- extrapyramidal disorder: A rare syndrome characterized by alopecia, progressive movement problems and a lack of gonadal function which affects puberty.
Alpha thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Alpha thalassemia involves defects in one or more of the four genes required to make each ? protein chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
Alpha thalassemia -- Hemoglobin H disease: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Hemoglobin H disease involves defects in three of the four genes required to make each ? protein chain. The main symptom is moderate to severe anemia.
Alpha thalassemia major: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Alpha thalassemia major is very rare involves defects in all of the four genes required to make each ? protein chain. The condition leads to infant death before or soon after birth.
Androgen insensitivity syndrome, partial: A rare inherited condition where males are partially insensitive to the male hormones which results in varying degrees of feminization. The effect of the condition can range from the presence of normal female sexual characteristics to normal male sexual characteristics or a combination of both.
Anemia: Reduced red blood cells in the blood
Anemia, Blackfan Diamond: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. The severity of symptoms is variable but most cases are serious.
Aniridia -- absent patella: A rare genetic condition characterized by an abnormal or missing kneecap as well as the absence of the iris of the eye.
Anophthalmia -- hypothalamo-pituitary insufficiency: A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland.
Anophthalmia -- hypyothalamo-pituitary insufficiency: A rare syndrome characterized mainly by small or absent eyes and malformations of the hypothalamus and pituitary gland.
Anophthalmia -- microcephaly -- hypogonadism: A rare syndrome characterized mainly by absent eyes, a small head and hypogonadism.
Anophthalmia/microphthalmia -- esophageal atresia: A rare disorder characterized by esophageal and genital defects as well as absent or very small eyes.
Anorchidia: A rare birth defect where the testes are absent. The testes may regress at any stage of fetal development. The stage of fetal growth at which the testes regress will affect the presentation of the disorder at birth. The presentation at birth may range from varying degrees of genital ambiguity with streak gonads.
Aromatase deficiency: A congenital deficiency of the enzyme called aromatase which is needed to convert androgens to estrogens.
Arthrogryposis multiplex congenita, distal, X-linked: A rare condition characterized by the presence of contractures at birth as well as various other anomalies. The condition is X-linked.
Ataxia -- diabetes -- goiter -- gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
Ataxia -- hypogonadism -- choroidal dystrophy: A very rare disorder characterized by spinocerebellar ataxia, eye abnormalities and a failure of the pituitary to stimulate gonadal development during puberty.
Attenuated congenital adrenal hyperplasia: A late onset form of congenital adrenal hyperplasia where insufficient adrenal corticosteroids are produced by the body due to the deficiency of a particular chemical. The severity of symptoms varies from person to person and onset may occur as early as childhood.
Autoimmune Hypophysitis: Inflammation of part of the pituitary gland due to an autoimmune process resulting in impaired pituitary hormone production. The range and severity of symptoms is variable depending on the degree of damage to the pituitary gland.
Autoimmune thyroid disease associated Celiac Disease: Patients with autoimmune thyroid disease are more susceptible to developing celiac disease than the average population. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
Azoospermia: Total lack of sperm in ejaculate
Bacterial prostatitis: Bacterial prostatitis is a bacterial inflammation of the prostate gland, in men.
Balanitis: Inflammation of the glans (or head) of the penis.
Balanitis xerotica obliterans: A chronic, progressive skin condition involving sclerosis and atrophic processes of the penis.
Bangstad syndrome: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
Bardet-Biedl Syndrome: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities.
Bardet-Biedl syndrome, type 1: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 1 is caused by a defect in chromosome 11q13.
Bardet-Biedl syndrome, type 10: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 10 is caused by a defect in chromosome 12q.
Bardet-Biedl syndrome, type 11: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 11 is caused by a defect in chromosome 9q33.1.
Bardet-Biedl syndrome, type 12: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 12 is caused by a defect in chromosome 4q27.
Bardet-Biedl syndrome, type 2: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 2 is caused by a defect in chromosome 16q21.
Bardet-Biedl syndrome, type 3: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 3 is caused by a defect in chromosome 3p12-q13.
Bardet-Biedl syndrome, type 4: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 4 is caused by a defect in chromosome 15q22.3.
Bardet-Biedl syndrome, type 5: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 5 is caused by a defect in chromosome 2q31.
Bardet-Biedl syndrome, type 6: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 6 is caused by a defect in chromosome 20p12.
Bardet-Biedl syndrome, type 7: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 7 is caused by a defect in chromosome 4q27.
Bardet-Biedl syndrome, type 8: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 8 is caused by a defect in chromosome 14q32.11.
Bardet-Biedl syndrome, type 9: A rare genetic disorder characterized by mental retardation, obesity, polydactyly and retinal pigmentation as well as other abnormalities. Type 9 is caused by a defect in chromosome 7p14.
Bassoe syndrome: A very rare syndrome characterized primarily by hypogonadism, cataracts during infancy and muscle weakness.
Benign prostate hypertrophy: Non-cancerous prostrate enlargement common with aging
Bent penis: Abnormal bending or curvature of the penis
Beta Thalassemia intermedia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. There are two subtypes of the disorder (alpha and beta) depending on what portion of the hemoglobin is abnormally synthesized. Beta Thalassemia intermedia involves defects in both of the two genes required to make each ? protein chain. The condition causes varying degrees of moderate anemia.
Beta thalassemia: Thalassemia is an inherited blood disorder characterized by abnormal synthesis of hemoglobin. Hemoglobin consists of two main protein chains called alpha and beta. Beta thalassemia involves defects in one or more of the two genes required to make each ? protein chain. The main symptom is anemia, the severity of which can vary amongst patients depending on how many defective genes are involved.
Biemond syndrome type 2: A rare inherited condition characterized by mental retardation, obesity, polydactyly and underdeveloped genitals.
Bindewald-Ulmer-Muller syndrome: A rare syndrome characterized mainly by a heart defect, and mental and growth retardation.
Bird-headed dwarfism with progressive ataxia, Insulin-resistant diabetes, goiter and primary gonadal insufficiency: A rare disorder characterized by diabetes, goiter, insufficient hormone production by the gonads and progressive ataxia.
Blepharoptosis -- aortic anomaly: A rare disorder characterized mainly by the presence of droopy upper eyelids and an abnormal aorta.
Blethen-Wenick-Hawkins syndrome: A rare syndrome characterized mainly by short stature, skeletal abnormalities and reduced pituitary gland functioning.
Bloody ejaculation: Blood appearing in the ejaculate after male ejaculation
Bloody semen: Blood appearing in ejaculated semen
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.
Body symptoms: Symptoms affecting the entire body features.
Boggy enlarged prostate: enlarged painful prostate
Borjeson Syndrome: A rare genetic disorder characterized by severe mental deficiency, large ears, hypogonadism and other abnormalities.
Borjeson-Forssman-Lehmann Syndrome: A rare genetic disorder characterized by severe mental deficiency, large ears, hypogonadism and other abnormalities.
Bosma-Henkin-Christiansen syndrome: A rare syndrome characterized mainly by a reduced sense of smell, an underdeveloped nose and hypogonadism.
Boucher-Neuhauser syndrome: A very rare disorder characterized by spinocerebellar ataxia, eye abnormalities and a failure of the pituitary to stimulate gonadal development during puberty.
Brachycephalofrontonasal dysplasia: A very rare syndrome characterized primarily by widely spaced eyes and other head and face abnormalities.
Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia: A rare syndrome characterized mainly by short digits, extra digits and a small or absent shin bone.
Bullous dystrophy, macular type: A rare condition characterized by loss of scalp hair, increased skin pigmentation, small head, mental retardation, short stature and blisters. The blisters do not form necessarily on skin that has suffered trauma but occurs spontaneously.
CCFDN: A rare, recessively inherited syndrome characterized by cataracts during infancy, unusual facial appearance and neuropathy.
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.
CDG syndrome type I: A rare genetic disorder where the body is unable to synthesize glycoproteins which results in multisystem problems.
Camera-Marugo-Cohen syndrome: A rare syndrome characterized mainly by mental retardation, muscle weakness, obesity and an asymmetrical body.
Camurat-Engelmann disease, type 2: A rare syndrome characterized by a range of abnormalities including waddling gait, muscle weakness, knee and hip contractures, delayed puberty and leg pain.
Camurati Engelmann disease, type 2: A rare disorder (described in two patients) which has similar symptoms to the genetic condition called Camurati Engelmann disease but the genetic defect responsible for type 1 is not present in type 2. Type 2 has additional bone abnormalities which were noted on radiographs. Patients tend to suffer flare-ups of their condition which is accompanied by severe pain which may leave the patient incapacitated. Flare-ups can be triggered or made worse by stress, exhaustion, exercise, growth spurts, standing too long, walking too long, infection, illness, injury, surgery, cold weather and sudden changes in air pressure.
Camurati-Engelmann Disease: A very rare genetic disease thickening of areas of bone causing pain, weakness and wasting. Usually affects the legs during childhood. Also called diaphyseal dysplasia.
Cantu Sanchez-Corona Fragoso syndrome: A rare syndrome characterized mainly by severe mental retardation, dwarfism and delayed puberty.
Cardiocranial syndrome: A rare syndrome characterized mainly by heart and skull abnormalities.
Cardiomyopathy -- hypogonadism -- metabolic anomalies: A rare syndrome characterized mainly by heart muscle disease, hypogonadism, blindness, deafness and metabolic anomalies. Puberty was normal despite the hypogonadism.
Cardiomyopathy, hypogonadism, collagenoma syndrome: A rare inherited condition characterized primarily by skin nodules. The skin nodules may be associated with organ system involvement resulting in a variety of other symptoms.
Cataract -- intellectual deficit -- anal atresia -- urinary defects: A very rare syndrome characterized mainly by cataracts, mental retardation and genitourinary tract abnormalities and absent anal opening.
Cataract deafness hypogonadism: A very rare syndrome characterized mainly by deafness, cataracts and a deficiency of sex hormone production.
Caudal appendage -- deafness: A very rare syndrome characterized mainly by deafness, finger bone abnormalities and a spinal extension giving a tail-like appearance (caudal appendage).
Cephalopolysyndactyly: A rare genetic disorder characterized by premature closing of skull bones and craniofacial abnormalities, finger and toe abnormalities. The type and severity of symptoms is variable with many cases remaining undiagnosed because their condition is relatively mild and doesn't cause many problems.
Cephalothoracic progressive lipodystrophy: A rare acquired disorder that involves adipose tissue abnormalities and is characterized by loss of adipose tissue mainly in the trunk and arms.
Cerebro-oculo-nasal syndrome: A rare syndrome characterized mainly by eye, nose and brain malformations.
Cervical ribs, sprengel anomaly, anal atresia, urethral obstruction: A rare disorder characterized mainly by kidney and urinary system abnormalities, scoliosis and omphalocele. The features of the disorder are variable with male cases tending to be more severe than female cases. Only a few cases of this condition have been reported.
Chemical poisoning -- 1,2-Dibromo-3-Chloropropane: 1,2-Dibromo-3-Chloropropane is a chemical used in soil fumigants and as a nematocide for various field crops. Commercial examples include Fumagon, Nemagon, Fumazone, Nemapax, Nemafume. Excessive exposure to this chemical can cause relatively mild symptoms. The chemical may be absorbed through the skin. The severity of symptoms varies depending on the amount of chemical involved and the route of exposure.
Chemical poisoning -- Chlordecone: Chlordecone is an insecticide used to control pests in crops such as bananas and tobacco. Ingestion and other exposures to the chemical can cause various symptoms. The chemical may be readily absorbed through the skin. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
Chemical poisoning -- Lead-containing Paint: Lead pain contains lead as well as other harmful chemicals. The lead in the pain is toxic (especially to young children) and ingesting fresh or old paint can cause serious symptoms. The type and severity of symptoms varies depending on the amount of chemical involved and the nature of the exposure.
Chondrodysplasia punctata with steroid sulfatase deficiency: A genetic skeletal and skin disorder involving a deficiency of steroid sulfatase. The skin condition is characterized by large brownish scales which can occur almost anywhere on the skin and can be disfiguring. The face, scalp, palms and soles are usually not involved. The skeletal disorder involves abnormal bone calcification near the joints also results in shortened limbs.
Chromosome 1, monosomy 1p34 p32: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, fingernail anomalies and testicular problems.
Chromosome 1, trisomy 1q32 qter: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, facial anomalies, mental retardation, stillbirth, heart defects and finger and toe abnormalities.
Chromosome 10 ring:
Chromosome 10 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 10 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 11, Partial Trisomy 11q: A very rare genetic disorder caused by a duplication of part of chromosome 11q. The characteristic symptoms of the disorder are delayed growth before and after birth, mental retardation (varying severity) and skull and facial defects. The type and severity of symptoms that can occur are variable.
Chromosome 11, deletion 11p: A syndrome that is caused by the deletion of short arm (p) of chromosome 11. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
Chromosome 11q duplication syndrome: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 11 rather than the normal two resulting in various abnormalities. The type and severity of symptoms depend on the amount and location of genetic material duplicated.
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 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 13p duplication: A rare chromosomal disorder where duplication of a portion of chromosome 13 causes various abnormalities such as mental retardation, short stature, facial dysmorphism, delayed puberty and heart defects.
Chromosome 14 trisomy: A rare chromosomal disorder involving duplication of genetic material from chromosome 14 resulting 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 14 trisomy syndrome: A rare chromosomal disorder involving duplication of genetic material from chromosome 14 resulting in various abnormalities.
Chromosome 14 uniparental disomy syndrome: A rare chromosomal disorder where two homologues are obtained from one parent.
Chromosome 14, trisomy mosaic: A rare chromosomal disorder characterized by retarded growth before and after birth, mental retardation, developmental delay and various physical abnormalities. The type and severity of symptoms may vary between patients.
Chromosome 15 Ring: A rare chromosomal disorder where genetic material from one or both ends of chromosome 15 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 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, partial deletion: A rare chromosomal disorder involving deletion 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 deleted 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 15q26-qter Deletion Syndrome: A rare disorder where a portion of genetic material on a particular chromosomal location (15q26-qter) is missing which manifests in a variable range of symptoms.
Chromosome 18 deletion syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing.
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 18q- Syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing. The type and severity of symptoms is determined by the amount of genetic material that is missing.
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 2, trisomy 2q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
Chromosome 21, tetrasomy 21q: A rare chromosomal disorder where there is four copies of the long arm of chromosome 21 instead of the normal two which results in various physical and mental anomalies.
Chromosome 22, trisomy: A very rare disorder where there is an extra copy of chromosome 22 in all the body cells. The condition is usually fatal soon after birth or during the fetal stage.
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 2q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
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 3, monosomy 3p: A rare chromosomal disorder where a portion of chromosome 3 is absent and is characterized by mental and growth deficiency, drooping upper eyelid and polydactyly.
Chromosome 3, monosomy 3p25: A rare chromosomal disorder characterized by mental retardation, short stature, deafness, extra digits, facial anomalies and various other abnormalities.
Chromosome 3, monosomy 3q13: A rare chromosomal disorder characterized by a range of abnormalities including facial anomalies, kidney dysfunction, large head, small penis and impaired joint mobility.
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 3, trisomy 3q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 3 is duplicated so there is three copies of it rather than the normal two. The condition is characterized by mental and growth deficiency, broad nose root and excessive hair growth.
Chromosome 4, trisomy 4p: A rare chromosomal disorder where a portion of chromosome four is duplicated so there is three copies of it instead of the normal two.
Chromosome 6 Ring: A rare chromosomal disorder where the ends of chromosome 6 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size of the genetic deletion.
Chromosome 6 ring syndrome: A rare chromosomal disorder where the ends of chromosome 6 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size of the genetic deletion.
Chromosome 6, monosomy 6q: 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 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.
Chromosome 7 ring syndrome: A rare chromosomal disorder where the ends of chromosome 7 have been deleted and the two broken ends have rejoined to form a ring shape resulting in a range of symptoms determined by the size of the genetic deletion.
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, trisomy 7p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
Chromosome 7, trisomy 7q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
Chromosome 7p duplication syndrome: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
Chromosome 7q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
Chromosome 8 recombinant syndrome: A rare recombinant chromosomal disorder involving chromosome 8 which results in various abnormalities.
Chromosome 8, trisomy 8p: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material 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 8p duplication syndrome: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
Chromosome 8q duplication syndrome: 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 9 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting in various abnormalities.
Chromosome 9, Partial Monosomy 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is missing resulting in various abnormalities. The type and severity of symptoms is determined by the amount of genetic material that is missing.
Chromosome 9, monosomy 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is missing resulting in various abnormalities.
Chromosome 9, trisomy: A rare chromosomal disorder where there are three copies of chromosome 9 in the body's cells instead of the normal two resulting 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 9, trisomy 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is duplicated so there is three copies of it instead of the normal two.
Chromosome 9/mosaic: A rare chromosomal disorder where chromosome 9 is duplicated in some of the body's cells resulting in various abnormalities determined by the type and number of cells that contain the extra genetic material.
Chromosome 9q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 9 resulting in various abnormalities.
Chromosome Xp11.23-p11.22 Duplication syndrome: A rare syndrome characterized by the association of a large head, lack of hair, scoliosis and a skin anomaly. The reported patients tend to involve parents who were related.
Chromosome Y deletion: An inherited chromosomal disorder where the deletion of the chromosome results in male infertility.
Chromosome diploid-triploid mosaicism syndrome: A rare chromosomal disorder involving chromosomal duplication, triplication and mosaicism.
Chronic herpes-like penile ulcers: formation of vesicles similar to the presentation in herpes
Chronic prostate blockage like symptoms: conditions which cause chronic symptoms similar to that when there is a blockage to prostate secretions
Chronic prostate pain symptoms: conditions which cause chronic pain similar to that of pain due to a prostatic pathology
Chronic prostate symptoms: symptoms related to the prostate includes painful micturition, hestiatancy and frequency of micturition
Chronic prostate-related urinary dribbling: weak urinary stream
Chronic prostate-related urinary symptoms: Symptomsinclude urinary frequency, urgency, urgency incontinence, voiding at night (nocturia), weak urinary stream, hesitency (needing to wait for the stream to begin), intermittency (when the stream starts and stops intermittently), straining to void, dysuria (burning sensation in the urethra), and dribbling
Chronic prostate-related weak urinary stream: weak urinary stream
Chudley syndrome 1: A rare syndrome characterized by mental retardation, obesity, hypogonadism and a distinctive mouth.
Ciliary dyskinesia, due to transposition of ciliary microtubules: A very rare disorder where the cilia fail to move adequately due to abnormal cilia structure. The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility. The infertility results as the tails of sperm is basically cilia.
Cirrhosis of liver: diffuse hepatic process characterized by fibrosis and the conversion of normal liver architecture into structurally abnormal nodules
Cleft palate -- cardiac defect -- genital anomalies -- ectrodactyly: A very rare syndrome characterized by variable symptoms including cleft palate, heart defects, genital anomalies and hand and foot malformations.
Cockayne syndrome type 1: A rare inherited condition characterized by short stature, light sensitivity and a prematurely aged appearance. Type 1 is an early-onset form and involves progressive symptoms that usually start after 1 year of age.
Cohen Syndrome: A rare genetic disorder characterized by reduced muscle tone, obesity and prominent front teeth.
Collagenous celiac disease: Collagenous celiac disease is used to describe progressive celiac disease characterized by the presence of a layer of collagen (scarring) in the intestinal layers. This form of celiac disease usually fails to respond to treatments such as gluten-free diets. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The condition usually fails to respond to treatment and has a poor prognosis.
Combined pituitary hormone deficiency, non acquired, non syndromic: Deficiency of more than one pituitary hormone not associated with any other malformations or abnormalities. The condition may be due to a genetic defect or the result of tumors, surgery or radiation therapies. Symptoms can vary considerable depending on which hormones are affected.
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 adrenal hyperplasia -- non-classical form: A late onset form of congenital adrenal hyperplasia where insufficient adrenal corticosteroids are produced by the body due to the deficiency of a particular chemical. The severity of symptoms varies from person to person and onset may occur as early as childhood.
Congenital adrenal hyperplasia -- simple virilizing form in females: A group of disorder that occur when a deficiency of 21-hydroxylase impairs the normal process of making adrenal corticosteroids. The simple virilizing form involves a moderate deficiency of 21-hydroxylase and differs in its effects on males and females.
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency: A rare genetic condition involving deficiency of 17-alpha-hydroxylase which impairs androgen production by the testes and estrogen production by the ovaries. This results in lack of development of secondary sexual characteristics and hypertension as well as other anomalies.
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.
Congenital disorder of glycosylation type 1K: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Ik is caused by a defect on chromosome 16p13.3 and involves a defect in the gene for beta-1,4-mannosyltransferase. The disorder is generally fatal within a year or two of birth.
Congenital penile anomalies: Congenital penile anomalies are birth defects of the penis.
Congenital spherocytic hemolytic anemia: A blood disorder present at birth where the membranes of red blood cells are defective which results in them being spherical rather than doughnut-shaped. These abnormally shaped red blood cells are broken down prematurely by the body which results in anemia. The condition may range from mild to severe.
Constant scrotal pain: Constant scrotal pain is discomfort is the scrotum that is steady and continual.
Constant testicular pain: Constant testicular pain is steady and continual discomfort in the testicles.
Crandall syndrome: A very rare syndrome characterized by twisted hair, hearing loss and sex hormone deficiency.
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.
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.
Craniosynostosis -- congenital heart disease -- mental retardation: A rare syndrome characterized mainly by heart and skull abnormalities as well as mental retardation.
Cryptorchidism in children: Cryptorchidism in children refers to a boy who has an undescended testicle.
Culler-Jones syndrome: A very rare syndrome characterized mainly by hypopituitarism (low pituitary hormone level) which affects other hormone levels and an extra little finger.
Cushing syndrome, familial: A hormonal disorder caused by high levels of the cortisol hormone due to the abnormal development of the adrenal gland.
Cushing's disease: A condition of hyperadrenocorticism which is secondary to excessive pituitary secretion of ACTH. Cushing's disease is different to Cushing's syndrome which refers to the effects of glucocorticoid excess from any cause.
Cushing-like symptoms: Symptoms similar to those of Cushing's disease
Cutis laxa congenital: A rare connective tissue disorder where an infant is born with loose, elastic skin.
Cystic Fibrosis: Cystic fibrosis is a hereditary disease affecting the exocrine (mucus) glands of the lungs, liver, pancreas, and intestines, causing progressive disability due to multisystem failure.
Cystic fibrosis -- gastritis -- megaloblastic anaemia: A rare syndrome characterized mainly by cystic fibrosis, metaloblastic anemia, mental retardation and gastritis due to helicobacter pylori.
De Grouchy Syndrome: A rare chromosomal disorder where a portion of chromosome 18 is missing. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
De Sanctis-Cacchione syndrome: A rare genetic ectodermal disorder characterized by sunlight sensitivity, skin atrophy and pigmentation and skin tumors as well neurologic involvement.
De la Chapelle syndrome: A sex chromosome disorder in males which affects gonadal development and causes infertility. Males have XX chromosomes instead of the normal XY.
Deafness -- pili torti -hypogonadism: An inherited condition characterized by twisted hairs, hypogonadism and nerve deafness.
Deafness hypogonadism syndrome: A rare condition characterized by the combination of hypogonadism and deafness.
Deafness neurosensory -- pituitary dwarfism: A very rare syndrome characterized by deafness and deficient sex hormone and pituitary hormone activity.
Deafness-mental retardation, Martin-Probst type: A rare disorder characterized mainly by deafness and mental retardation.
Decreased penile sensation: Decreased penile sensation is a lowered level of feeling in the penis.
Del (2) (q37.1-qter) and dup (14) (q31.2-qter): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in two reported cases. The manifestations linked to most genetic defects are often variable to some degree.
Del(1) (q25-q32): A very rare chromosomal disorder where a portion of the long arm (q25-q32) of chromosome one is missing. The range and severity of symptoms is variable.
Del(1) (q42-qter): A very rare chromosomal disorder where a portion of the long arm (q42-qter) of chromosome one is missing. The type and severity of symptoms is variable.
Delayed ejaculation: A condition which is characterized by a delay in the males ability to ejaculate
Delayed puberty: A lack of sexual maturation in an adolescent at an age significantly higher than the average age that child of that epidemiology attains puberty.
Delayed sexual development: Delayed sexual development refers to late development of the sexual organs.
Deletion 10q: A rare disorder caused by the deletion of a portion of chromosome 10q. The range and severity of symptoms is determined by the size of the portion that is deleted.
Deletion 11p: A syndrome that is caused by the deletion of short arm (p) of chromosome 11. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
Deletion 18q: A rare chromosomal disorder where a portion of chromosome 18 is missing. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
Deletion 3p: A rare chromosomal disorder where a portion of chromosome 3 is absent and is characterized by mental and growth deficiency, drooping upper eyelid and extra digits.
Deletion 6q: 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.
Developmental problems: Physical or mental development difficulty.
Diamond-Blackfan anemia: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. The severity of symptoms is variable but most cases are serious.
Diamond-Blackfan anemia 1: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. Type 1 is caused by a defect on the RPS19 gene located on chromosome 18q13.2.
Diamond-Blackfan anemia 2: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. Type 2 is caused by a defect on chromosome 19q13.2.
Diamond-Blackfan anemia 3: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. Type 3 is caused by a defect on the RPS24 gene located on chromosome 10q22-q23.
Diamond-Blackfan anemia 4: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. Type 4 is caused by a defect on the RPS17 gene located on chromosome 15q.
Diamond-Blackfan anemia 5: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. Type 5 is caused by a defect on the RPL35A gene located on chromosome 3q29-qter.
Diamond-Blackfan anemia 6: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. Type 6 is caused by a defect on the RPL5 gene located on chromosome 1p22.1.
Diamond-Blackfan anemia 7: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. Type 7 is caused by a defect on the RPL11 gene located on chromosome 1p36.1-p35.
Diamond-Blackfan anemia 8: Diamond-Blackfan anemia is a rare genetic condition where the bone marrow is unable to make sufficient red blood cells which leads low levels of red blood cells. There are eight subtypes of the condition which differ in the location of the genetic defect and the incidence of additional symptoms such as malformations. Type 8 is caused by a defect on the RPS7 gene on chromosome 2p25.
Diethylstilbestrol: A synthetic nonsteroidal estrogen
Diethylstilbestrol antenatal infection: A very rare syndrome characterized mainly caused by exposure to diethylstilbestrol (used to prevent complications during pregnancy such as miscarriage and prematurity) during pregnancy
Discharge from penis: abnormal discharge from the penis which is not urine or semen
Distal Trisomy 11q: A very rare genetic disorder caused by a duplication of part of chromosome 11q. The characteristic symptoms of the disorder are delayed growth before and after birth, mental retardation (varying severity) and skull and facial defects. The type and severity of symptoms that can occur are variable.
Distinctive Craniofacial Features -- Pterygia -- Mental Retardation: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
Down Syndrome: A chromosome syndrome causing physical effects and mental retardation.
Down's syndrome associated Celiac Disease: Patients with Down's syndrome have a high degree of susceptibility to developing celiac disease. Up to 17% of Down's syndrome sufferers develop celiac disease but this rate varies amongst age groups and country of origin. Celiac disease is an autoimmune disorder characterized by intolerance to gluten by the small intestine. The type and severity of symptoms varies amongst people - some people have severe gastrointestinal symptoms from infancy whereas other have no symptoms other than fatigue or anemia during adulthood.
Dup (2) (p21-p13): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in one reported case. The manifestations linked to most genetic defects are often variable to some degree.
Dup (2) (pter-p23): 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) (p22-p14): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in two 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) (p35-p31): A very rare chromosomal disorder where a portion of the short arm (p35-p31) of chromosome one is duplicated. The reported case resulted in death at 6 weeks of age.
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 2q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 2 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
Duplication 7p: A rare chromosomal disorder where there are three copies of all or part of the short arm (p) of chromosome 7 rather than the normal two. The type and severity of symptoms is determined by the location and size of the genetic material duplicated.
Duplication 7q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
Duplication 8p: A rare chromosomal disorder where the short arm (p) of chromosome 8 is duplicated resulting in three copies instead of two. The type and severity of symptoms depends on the location and length of genetic material duplicated.
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.
Dysostosis acral with facial and genital abnormalities: A very rare inherited disorder characterized by short stature and head, face, skeletal and genital abnormalities. The facial appearance is that of a two-month old fetus. The severity and range of symptoms is variable. This dominantly inherited form of Robinow syndrome tends to be milder than the recessive form.
EEC syndrome: A rare genetic disorder characterized by absence of fingers and toes, ectodermal dysplasia and cleft lip or cleft palate.
Early puberty: Early puberty refers to an premature onset of the physical changes in the body that signal readiness for reproduction.
Ectodermal dysplasia -- mental retardation -- CNS malformation: A rare syndrome characterized mainly by mental retardation, central nervous system disorders and skin, hair and nail abnormalities.
Ectodermal dysplasia -- mental retardation -- central nervous system malformation: A rare syndrome characterized by severe mental retardation, hypothyroidism, abnormal brain development and hair, teeth and nail abnormalities.
Ectodermal dysplasia, Berlin type: A rare syndrome characterized mainly by the absence of many or all teeth, a lack of hair, mental retardation and skin abnormalities.
Ectrodactyly -- Ectodermal Dysplasia -- Cleft Lip/Palate Syndrome, Type 1: EEC (Ectrodactyly, ectodermal dysplasia, cleft lip/palate) is a rare inherited condition characterized by split hand and foot deformities of variable severity, cleft lip or palate and teeth and hair anomalies. There are two main types of EEC which differ in the origin of the genetic defect. Type 1 is caused by a defect on chromosome 7q11. The severity and type of symptoms and deformities is highly variable.
Ectrodactyly -- Ectodermal Dysplasia -- Cleft Lip/Palate Syndrome, Type 3: EEC (Ectrodactyly, ectodermal dysplasia, cleft lip/palate) is a rare inherited condition characterized by split hand and foot deformities of variable severity, cleft lip or palate and teeth and hair anomalies. There are two main types of EEC which differ in the origin of the genetic defect. Type 3 is caused by a defect on chromosome 3q27. The severity and type of symptoms and deformities is highly variable.
Ejaculate blood: blood in the semen, called hematospermia, maybe undectable( microscopic) or visible in the ejaculation fluid
Ejaculation symptoms: Symptoms related to ejaculation and orgasm
Emanuel syndrome: A rare chromosomal disorder where a portion of chromosome 11 is translocated with a portion of chromosome 22. The disorder involves a wide range of abnormalities such as kidney, genital and heart abnormalities, mental retardation, small head and failure to thrive.
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.
Endomyocardial fibroelastosis: A rare heart malformation involving an abnormal thickening of the part of the heart muscle called the endocardium which affects the heart's function. Death is common in infancy and during early childhood.
Enlarged testicle: Enlargement of the male testicle to a size considered to be more than normal
Epididymal nodules: presence of nodules in the epididymis
Epiphyseal dysplasia -- hearing loss -- dysmorphism: A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities.
Epiphyseal dysplasia dysmorphism camptodactyly: A rare syndrome characterized mainly by hearing loss, unusual face and bone development abnormalities.
Erectile dysfunction: The inability to obtain on normal erection
Eunuchoidism familial: A rare inherited defect that affects production of gonadotropin which affects puberty and the development of secondary sexual characteristics.
Face symptoms: Symptoms affecting the face
Facial dysmorphism -- shawl scrotum -- joint laxity syndrome: A very rare syndrome characterized mainly by loose joints, facial anomalies and a shawl scrotum.
Faciodigitogenital syndrome, recessive form: A rare syndrome characterized by facial, digital and genital abnormalities.
Factor XIII Deficiency: A very rare inherited or acquired blood disorder caused by a deficiency of Factor XIII which is involved in stabilizing blood clot formation. The condition manifests as bleeding problems.
Factor XIII deficiency, congenital: A very rare inherited blood disorder caused by a deficiency of Factor XIII which is involved in stabilizing blood clot formation. The condition manifests as bleeding problems.
Factor XIII, A1 subunit Deficiency: A very rare inherited or acquired blood disorder caused by a deficiency of subunit A of Factor XIII which is involved in stabilizing blood clot formation. The condition manifests as bleeding problems.
Factor XIII, B subunit Deficiency: A very rare inherited or acquired blood disorder caused by a deficiency of subunit B of Factor XIII which is involved in stabilizing blood clot formation. The condition manifests as bleeding problems.
Familial dysautonomia: An inherited biochemical disorder that primarily affects the autonomic and sensory nervous system.
Fanconi pancytopenia: A rare genetic disorder characterized by upper limb defects and kidney abnormalities.
Female reproductive symptoms: Symptoms affecting the female reproductive organs.
Female reproductive toxicity: There is mounting evidence which indicates that exposure to certain agents may produce adverse reproductive or fetal developmental effects. The possible range of effects includes reduced fertility, low birth weight, childhood cancer, spontaneous abortion and birth defects. Agents which may be implicated in these adverse effects includes anticancer drugs, carbon disulfide, carbon monoxide, lead, pesticides, organic solvents and tobacco smoke.
Femoral facial syndrome: A rare genetic disorder characterized by underdeveloped femur, short nose and cleft palate.
Fertility symptoms: Fertility problems for men or women.
Fibromatosis multiple non ossifying: A very rare syndrome characterized mainly by bone abnormalities which causes the bones to fracture easily.
Fleisher syndrome: A rare inherited condition characterized by a deficiency of growth hormones and reduced blood levels of antibodies in the blood.
Forbes disease: A rare inherited glycogen storage disease caused by a deficiency of the enzyme amylo-1,6-glucosidase resulting in a build up of glycogen in the liver and muscles.
Forbes-Albright syndrome: A rare condition where a hormone secreting pituitary or hypothalamic tumor causes galactorrhea and amenorrhea.
Foreskin itch: An sensation to scratch the foreskin
Foreskin paresthesia/ tingling: A loss of sensation located at or around the foreskin
Foreskin rash: An eruption on the skin of the foreskin
Foreskin symptoms: Symptoms affecting the foreskin of the penis
Foreskin tingling/ paresthesia: A tingling sensation located on the foreskin
Freire-Maia odontotrichomelic syndrome: A rare syndrome characterized by tooth, hair and limb abnormalities.
Freire-Maia syndrome: An extremely rare syndrome characterized by tooth, hair and limb abnormalities. The abnormalities can be quite severe in some cases. The parents may have been related in the reported cases.
Froelich's syndrome: A rare condition where an endocrine abnormality (caused by such things as a pituitary tumor or damage to the hypothalamus) affects hormone levels which results in a variety of symptoms.
GAPO syndrome: A rare condition characterized by retarded growth, alopecia, otpic atrophy and failure of teeth to erupt.
Garret-Tripp syndrome: A rare syndrome characterized mainly by extra digits, a lack of hair and scaly skin on the scalp, face and neck.
Genital herpes: Sexually transmitted infection of the genital region.
Genital lesions in male: most commonly are ulcers which are situated in the genital area
Genital lesions in the male: Genital lesions in the male refer to ulcers or sores that develop on the genitals.
Genital symptoms: Symptoms affecting the sex organs.
Genital warts: Skin warts in the genital regions.
Gigantism: Gigantism refers to abnormally high linear growth due to excessive action of insulin-like growth factor-I (IGF-I) while the epiphyseal growth plates are open during childhood.
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.
Glycogen debranching deficiency: A rare metabolic disorder where an enzyme deficiency (amylo-1,6-glucosidase) results in a harmful buildup of glycogen byproducts in the liver, muscle and even the heart in some cases. The severity of symptoms is variable depending on the degree of enzyme deficiency and how strictly treatment measures are adhered to.
Gonadal dysgenesis: The abnormal development of gonads which means that the sex hormones are not being produced. The gonads are the primary reproductive organs - testes in males and ovaries in females. These organs produced sperm and eggs as well as sex hormones - testes produce the male hormone called testosterone and ovaries produce the female hormone called estrogen. Abnormal gonad development and hence lack of sex hormones can affect sexual differentiation between males and females and puberty may be delayed or fail to occur altogether.
Gonadal dysgenesis Turner type: The abnormal development of gonads that occurs in Turner syndrome due to a chromosomal abnormality. It occurs when the there is only one fully functioning X chromosome instead of two which results in underdeveloped female characteristics. The severity of symptoms is determined by how much of the second sex chromosome is missing.
Gonorrhea: Common sexually transmitted disease often without symptoms.
Gradual onset of scrotal swelling: Gradual onset of scrotal swelling is a slow development of puffiness or abnormal enlargement of the scrotum.
Grahmann's syndrome: Abnormal development of the part of the brain called the diencephalon which in turn affects the pituitary gland. The main manifestations are impaired sexual development, obesity and periodic psychotic episodes.
Granuloma inguinale: Granulomous disease spread sexually.
Greig Cephalopolysyndactyly Syndrome: A rare genetic disorder characterized by premature closing of skull bones and craniofacial abnormalities, finger and toe abnormalities.
Growth Delay, Constitutional: A genetic tendency for delayed puberty. Children tend to be small for their age but once puberty does start, normal height is usually achieved.
Growth Hormone Deficiency: A deficiency in growth hormone which results in poor growth.
Growth Hormone Receptor Deficiency: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
Hall-Riggs mental retardation syndrome: A rare inherited disorder characterized by mental retardation, distinctive facial features and various bone abnormalities.
Harper dwarfism: A rare inherited disorder involving a range of abnormalities. It is a variant of the Seckel syndrome.
Haspeslagh Fryns Muelenaere syndrome: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
Head symptoms: Symptoms affecting the head or brain
Hematochromatosis: Hemochromatosis is the abnormal accumulation of iron in parenchymal organs, leading to organ toxicity. It is the most common inherited liver disease in whites and the most common autosomal recessive genetic disorder.
Hemolytic anaemia, lethal -- genital anomalies: A very rare syndrome characterized mainly by genital abnormalities and hemolytic anemia which often causes death.
Hemolytic anemia, lethal -- genital anomalies: A very rare syndrome characterized mainly by genital abnormalities and hemolytic anemia which often causes death.
Hemospermia: The presence of blood in the semen.
Herpes-like penile ulcers: formation of vesicles similar to the presentation in herpes
Hersh-Podruch-Weisskopk syndrome: A very rare syndrome characterized mainly by progressive retinal damage, mental retardation and deafness.
Holoprosencephaly deletion 2p: A very rare syndrome characterized mainly by the failure of the brain to separate into two lobes, facial deformities and various other anomalies.
Holoprosencephaly, recurrent infections, and monocytosis: A rare syndrome characterized by recurring infections and a brain anomaly. Death usually occurs during the first years of life due to sepsis.
Human Papillomavirus: Very common sexually transmitted disease causing genital warts and associated with certain cancers.
Hunter-Carpenter-Macdonald syndrome: A very rare syndrome characterized by various abnormalities including small head, facial anomalies, mental retardation and hair, skin and nail anomalies. Fetal exposure to alcohol is believed to be a factor in the syndrome.
Hydrocephalus obesity hypogonadism: A very rare syndrome characterized mainly by obesity, buildup of fluid inside the skull (hydrocephalus) and impaired sex hormone production.
Hyperpigmentation, Cutaneous, With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, Hearing Loss, And Hypogonadism: A rare syndrome characterized by various skin and nail anomalies as well as other problems.
Hypersecretion of growth hormone: increased production of growth hormone from the pituitary gland
Hypogonadism: medical term for a defect of the reproductive system that results in lack of function of the gonads (ovaries or testes).
Hypogonadism -- mitral valve prolapse -- mental retardation: A very rare syndrome characterized mainly by a heart disorder, hypogonadism and mental retardation.
Hypogonadism hypogonadotropic due to mutations in GR hormone: Hypogonadism hypogonadotropic due to mutations in GR hormone is a condition where defects in the gene for gonadotropin-releasing hormone results in problems with sexual maturation during development. The symptoms may vary in severity depending on the degree of mutation.
Hypogonadism, isolated, hypogonadotropic: A rare condition involving a deficiency of sex hormones (leutinizing and follicle-stimulating hormone) which results in partial or complete failure of puberty.
Hypogonadism, primary -- partial alopecia: A very rare syndrome characterized mainly by hypogonadism and the presence of hair in the middle of the scalp only.
Hypogonadotropic hypogonadism alopecia: A very rare syndrome characterized by partial alopecia and lack of secondary sex hormone production.
Hypogonadotropic hypogonadism without anosmia, X-linked: A rare X-linked disorder involving a deficiency of sex hormones (leutinizing and follicle-stimulating hormone). It is similar to Kallman syndrome but the sense of smell is preserved.
Hypopituitarism -- micropenis -- cleft lip palate: A very rare syndrome characterized mainly by low pituitary hormone level, small penis and a cleft lip and palate.
Hypopituitarism postaxial polydactyly: A very rare syndrome characterized mainly by hypopituitarism (low pituitary hormone level) which affects other hormone levels and an extra little finger.
Hypothalamic dysfunction: Abnormal function of the thalamus located in the brain. The thalamus controls pituitary gland function which in turn controls other hormone producing glands such as the thyroid gland, adrenal gland, ovaries and testes. The thalamus also regulates functions such as temperature control, emotions, sleep, appetite and salt balance. Abnormal thalamus functioning may be caused by such things as surgery, infection, genetic disorders, poor nutrition and tumors.
IMAGe syndrome: A rare syndrome characterized by retarded fetal growth, abnormal bone development, underdeveloped adrenal glands and genital abnormalities.
Ichthyosis and male hypogonadism: A very rare syndrome characterized mainly by scaly skin and insufficient hormone production by the male gonads.
Ichthyosis male hypogonadism: A very rare syndrome characterized mainly by scaly skin and insufficient hormone production by the male gonads.
Immotile cilia syndrome, due to defective radial spokes: A very rare disorder where the cilia fail to move adequately due to abnormal cilia structure. The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility.
Immotile cilia syndrome, due to excessively long cilia: A very rare disorder where the cilia fail to move adequately due to abnormally long cilia. The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility. The infertility results as the tails of sperm is basically cilia.
Impossible syndrome: A very rare syndrome (only one reported case) characterized a range of severe malformations, premature birth and stillbirth.
Impotence: Difficulty starting or maintaining an erection
Induration of the prostate: swelling of the prostate gland
Infantile hypothyroidism: A condition in infancy or early childhood due to an in-utero deficiency of thyroid hormones that can be caused by genetic or environmental factors, such as thyroid dysgenesis or hypothyroidism in infants of mothers treated with thiouracil during pregnancy.
Inflammatory Bowel Disease 1: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable. Inflammatory Bowel Disease 1 is linked to 16q12.
Inflammatory Bowel Disease 10: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable. Inflammatory Bowel Disease 10 is linked to 2q37.1.
Inflammatory Bowel Disease 11: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable. Inflammatory Bowel Disease 11 is linked to 7q22.
Inflammatory Bowel Disease 12: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable. Inflammatory Bowel Disease 12 is linked to 3p21.
Inflammatory Bowel Disease 13: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable. Inflammatory Bowel Disease 13 is linked to 7q21.1.
Inflammatory Bowel Disease 14: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable. Inflammatory Bowel Disease 14 is linked to 7q32.
Inflammatory Bowel Disease 15: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable. Inflammatory Bowel Disease 15 is linked to 10q21.
Inflammatory Bowel Disease 16: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable. Inflammatory Bowel Disease 16 is linked to 9q32.
Inflammatory Bowel Disease 17: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable. Inflammatory Bowel Disease 17 is linked to 1p31.1.
Inflammatory Bowel Disease 18: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable. Inflammatory Bowel Disease 8 is linked to 16p.
Inflammatory Bowel Disease 19: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable. Inflammatory Bowel Disease 19 is linked to 5q33.1.
Inflammatory Bowel Disease 2: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable. Inflammatory Bowel Disease 2 is linked to 12p13.2-q24.1.
Inflammatory Bowel Disease 20: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable. Inflammatory Bowel Disease 20 is linked to 10q24.
Inflammatory Bowel Disease 21: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable. Inflammatory Bowel Disease 21 is linked to 18p11.
Inflammatory Bowel Disease 22: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable. Inflammatory Bowel Disease 22 is linked to 17q21.
Inflammatory Bowel Disease 23: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable. Inflammatory Bowel Disease 23 is linked to 1q32.
Inflammatory Bowel Disease 24: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable. Inflammatory Bowel Disease 24 is linked to 20q13.
Inflammatory Bowel Disease 25: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable. Inflammatory Bowel Disease 25 is linked to 21q22.
Inflammatory Bowel Disease 26: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable. Inflammatory Bowel Disease 26 is linked to 12q15.
Inflammatory Bowel Disease 27: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable. Inflammatory Bowel Disease 27 is linked to 13p13.3.
Inflammatory Bowel Disease 3: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable. Inflammatory Bowel Disease 3 is linked to 6p21.3.
Inflammatory Bowel Disease 4: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable. Inflammatory Bowel Disease 4 is linked to 14q11-q12.
Inflammatory Bowel Disease 5: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable. Inflammatory Bowel Disease 5 is linked to 5q31.
Inflammatory Bowel Disease 6: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable. Inflammatory Bowel Disease 6 is linked to 19p13.
Inflammatory Bowel Disease 7: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable. Inflammatory Bowel Disease 7 is linked to 1p36.
Inflammatory Bowel Disease 9: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable. Inflammatory Bowel Disease 9 is linked to 3p26.
Inflammatory bowel disease: Inflammatory bowel disease refers to digestive symptoms resulting from chronic bowel inflammation. Crohn's disease and ulcerative colitis are two of the main subtypes of the disease. Scientists have discovered an array of genetic mutations which can result in an increased susceptibility to inflammatory bowel disease. Not all people with the genetic anomaly will develop the condition but it can increase the risk especially if other environmental factors are also present. The severity of the disease that develops is variable.
Inhibited ejaculation: The inhibition of a males ability to ejaculate
Insulin-resistance syndrome, type A: A syndrome characterized by insulin resistance resulting in distinctive skin lesions called acanthosis nigricans. It is the least severe form of insulin resistance.
Intercourse symptoms: Symptoms related to the act of sexual intercourse.
Intermittent herpes-like penile ulcers: formation of vesicles similar to the presentation in herpes
Intermittent prostate blockage like symptoms: conditions which cause symptoms similar to that when there is a blockage to prostate secretions
Intermittent prostate pain symptoms: conditions which cause intermittent pain similar to that of pain due to a prostatic pathology
Intermittent prostate symptoms: symptoms related to the prostate includes painful micturition, hestiatancy and frequency of micturition
Intermittent prostate-related urinary dribbling: weak urinary stream
Intermittent prostate-related urinary symptoms: Symptomsinclude urinary frequency, urgency, urgency incontinence, voiding at night (nocturia), weak urinary stream, hesitency (needing to wait for the stream to begin), intermittency (when the stream starts and stops intermittently), straining to void, dysuria (burning sensation in the urethra), and dribbling
Intermittent prostate-related weak urinary stream: weak urinary stream
Intrauterine growth retardation -- metaphyseal dysplasia -- adrenal hypoplasia congenita -- genital anomalies: A rare syndrome characterized by retarded fetal growth, abnormal bone development, underdeveloped adrenal glands and genital abnormalities.
Irritation of scrotum skin: A condition which is characterized by irritation of the skin of the scrotum
Johanson-Blizzard Syndrome: A rare genetic disorder involving a range of abnormalities including a characteristic beak-like small nose, hypothyroidism and deafness.
Kallmann Syndrome: A rare inherited condition characterized by hypogonadism, eunuchoidism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance.
Kallmann Syndrome 5: A rare inherited condition characterized by hypogonadism, eunuchoidism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance. The symptoms and their severity may be somewhat variable. Type 5 is linked to a defect on chromosome 8q12.1.
Kallmann Syndrome 6: A rare inherited condition characterized by hypogonadism, eunuchoidism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance. The symptoms and their severity may be somewhat variable. Type 6 is linked to a defect on chromosome 10q24.
Kallmann syndrome 2: A rare inherited condition characterized by hypogonadism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance. Type 2 is caused by a genetic defect located at chromosome 8p11.2-p11.1.
Kallmann syndrome, type 1, X-linked: A rare inherited condition characterized by hypogonadism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance. Type 1 is caused by a genetic defect located at chromosome Xp22.3.
Kallmann syndrome, type 3, recessive: A rare inherited condition characterized by hypogonadism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance. Type 3 is recessively inherited and the genetic defect is located at chromosome 20p13.
Kallmann syndrome, type 4: A rare inherited condition characterized by hypogonadism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance. Type 4 is caused by a genetic defect located at chromosome 3p21.1.
Keratoderma -- epithelioma -- dental abnormalities- hypogonadism: A rare disorder characterized by skin and dental abnormalities as well as hypogonadism.
Klinefelter syndrome: A genetic condition where males have at least one extra X chromosome or extra copies of both the X and Y chromosomes in each cell. Normally male cells contain one X and one Y chromosome in each cell. The condition is not inherited but is a result of problems during cell division. Klinefelter syndrome variants is a more severe form of the condition as it involves more than one extra X or X and Y chromosome in each cell.
Klinefelter syndrome variant:
Klinefelter syndrome, variants: A genetic condition where males have at least one extra X chromosome or extra copies of both the X and Y chromosomes in each cell. Normally male cells contain one X and one Y chromosome in each cell. The condition is not inherited but is a result of problems during cell division.
Kwashiorkor: A malnutrition state that is produced by severe protein deficiency
Laron Dwarfism: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
Laron Pituitary Dwarfism: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
Laron Syndrome: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
Laron Type Pituitary Dwarfism 1: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
Laron syndrome type 1: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
Laron syndrome type 2: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
Laron-type Dwarfism Phenotypic Syndrome: Laron syndrome is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results. Type 1 involves a defect in the growth hormone receptor gene which prevents the hormone from binding and being used. Hence there are high levels of free growth hormone in the plasma. Type II involves a problem with the processing of the growth hormone once it has been bound properly to the cell surface.
Laron-type dwarfism: A rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and hence dwarfism results.
Late start of menstruation: Late first period in adolescent girls
Laurence-Moon Syndrome: A rare inherited disorder characterized by vision loss, impaired hormone production, mental retardation and spastic paraplegia.
Lead poisoning: A type of heavy metal poisoning caused by excessive exposure to lead.
Leydig cells hypoplasia: A condition resulting from reduced or absent functioning of Leydig cells which leads to insufficient production of the male hormone androgen which can cause problems with sex differentiation in males at puberty. The severity of symptoms varies depending on the degree of functioning of the Leydig cells. Type 1 is a more severe form of the condition where males develop a female appearance whereas type II results in symptoms such as small penis and hypogonadism though the patients has an overall male appearance.
Leydig cells hypoplasia, type I: A condition resulting from reduced or absent functioning of Leydig cells which leads to insufficient production of the male hormone androgen which can cause problems with sex differentiation in males at puberty. The severity of symptoms varies depending on the degree of functioning of the Leydig cells. Type 1 is a more severe form of the condition where males develop a female appearance whereas type II results in symptoms such as small penis and hypogonadism though the patients has an overall male appearance.
Leydig cells hypoplasia, type II: A condition resulting from reduced or absent functioning of Leydig cells which leads to insufficient production of the male hormone androgen which can cause problems with sex differentiation in males at puberty. The severity of symptoms varies depending on the degree of functioning of the Leydig cells. Type 1 is a more severe form of the condition where males develop a female appearance whereas type II results in symptoms such as small penis and hypogonadism though the patients has an overall male appearance.
Lichen planus: Skin rash
Lichen sclerosis: Disease causing leathery or dry skin in genital areas.
Lissencephaly, X linked -- agenesis of the corpus callosum -- genital anomalies: A rare brain malformation where the surface of the brain is smoother than normal. Absent corpus callosum and genital anomalies are also associated. The severity of the disorder is variable.
Lissencephaly, X-linked 2: A rare brain malformation where the surface of the brain is smoother than normal. Genital anomalies are also associated. The severity of the disorder is variable.
Lissencephaly, X-linked, 1: Abnormal brain development resulting in an abnormally smooth brain surface which results in neurological symptoms such as mental retardation. This particular type is inherited in a X-linked manner is caused by a defect in the doublecortin gene on chromosome Xq22.3-q23.
Lissencephaly, type 1, X-linked: Abnormal brain development characterized by an abnormally smooth brain. This form of the disorder is inherited in a X-linked manner (defect on the DCX gene) and the corpus callosum fails to develop. Males tend to be affected more severely than females.
Liver symptoms: Symptoms affecting the liver
Lump in the testicle: not all lumps in the testicles are tumours and not all tumopurs are malignant, but all lumps must be checked by a physician
Lundberg II syndrome: A rare syndrome involving cataracts, reduced hormone production by ovaries or testes and myopathy which mainly involves the facial and muscles close to the trunk.
Luteinizing hormone releasing hormone, deficiency of, with ataxia: A very rare syndrome characterized mainly by insufficient sex hormone production and impaired balance and coordination due to nervous system dysfunction.
Lymphangiectasies and lymphedema Hennekam type: A rare disorder characterized by buildup of lymphatic fluid in the limbs, face and genitals, seizures and mental and growth retardation.
Lymphoedema -- lymphangiectasia -- mental retardation: A rare disorder characterized by buildup of lymphatic fluid in the limbs, face and genitals, seizures and mental and growth retardation.
Lymphogranuloma venereum: Type of chlamydia (sexually transmitted disease)
MORM syndrome: A rare syndrome characterized by mental retardation, truncal obesity, small penis and an eye disorder.
MacDermot-Winter syndrome: A very rare syndrome characterized mainly by a small head, underdeveloped genitalia and a protrusion of the area between the eyes (glabella).
Male conditions: Any conditions that specifically affect the male sex
Male genital conditions: Any condition that affects the male genitalia
Male genital symptoms: Symptoms affecting the male genitals.
Male impotence: it is most poorly understood and mismangaed of all medical disorders. Can be divided into primary and secondary
Male infertility: When a male is not able to produce offspring
Male reproductive conditions: Medical conditions affecting the male reproductive system.
Male reproductive toxicity -- 1,2-Dibromo-3-Chloropropane (DBCP): Exposure to 1,2-Dibromo-3-Chloropropane (DBCP), a recognized reproductive toxicant, can negatively affect the male reproductive system. 1,2-Dibromo-3-Chloropropane (DBCP) is used mainly as an ingredient in pesticides such as Fumazone and Nemagon. The severity and nature of the adverse effect is variable and can be influenced by factors such as level of exposure and individual sensitivity to the chemical. Effects on the male reproductive system can include such things as altered sexual behavior, altered fertility and problems with sperm shape or count.
Malouf syndrome: A very rare syndrome characterized mainly by heart disease as well as abnormal ovaries.
Malpuech facial clefting syndrome: A very rare syndrome characterized by mental and physical retardation, wide set eyes, genital abnormalities and a characteristic facial cleft.
Mandibuloacral dysplasia: A very rare syndrome characterized mainly by a prematurely aged appearance and bone abnormalities. There are two subtypes with type B involving loss of fat layers under the skin mainly in the extremities, face and trunk whereas type A involves mainly the extremities. The severity of the symptoms is variable.
Mandibuloacral dysplasia with type A lipodystrophy: A very rare syndrome characterized mainly by a prematurely aged appearance and bone abnormalities. Loss of fat layers under the skin occurs mainly in the extremities in type B. The severity of the symptoms is variable.
Mandibuloacral dysplasia with type B lipodystrophy: A very rare syndrome characterized mainly by a prematurely aged appearance and bone abnormalities. Loss of fat layers under the skin occurs mainly in the extremities, face and trunk in type B. The severity of the symptoms is variable.
Marijuana abuse: Illicit depressant/hallucinogenic drug
Marinesco-Sjogren syndrome: A group of recessively inherited disorder characterized mainly by incoordination due to a brain anomaly.
Martsolf syndrome: A rare inherited condition characterized by mental retardation, cataracts, small head and hypogonadism (reduced production of hormones by ovaries or testes).
McCune-Albright Syndrome: A rare genetic multisystem disorder characterized by abnormal skin pigmentation and endocrine gland dysfunction and replacement of parts of bone tissue with fibrous material.
Meier-Rotschild syndrome: A rare disorder characterized mainly by short stature, small ears and absent kneecaps.
Mens health symptoms: Symptoms closely related to men's health.
Mental Retardation -- Pterygia -- Shortness -- Distinctive Facial Appearance: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
Mental retardation -- dysmorphism -- hypogonadism -- diabetes: A very rare syndrome characterized mainly by mental retardation, hypogonadism, diabetes and facial and skull abnormalities.
Mental retardation -- epilepsy -- bulbous nose: A very rare syndrome characterized mainly by mental retardation, epilepsy and a bulbous nose. The condition has been reported in only two families.
Mental retardation -- epileptic seizures -- hypogonadism -- hypogenitalism -microcephaly -- obesity: A very rare syndrome characterized mainly by mental deficiency, epilepsy, small head, small genitals and obesity. Death occurs within the first two years of life.
Mental retardation -- hypotonic facies syndrome, X-linked, 1: A group of rare syndromes characterized by severe mental retardation, unusual facial appearance and other variable abnormalities.
Mental retardation -- myopathy -- short stature -- endocrine defect: A very rare syndrome characterized mainly by mental retardation, muscle disease, short stature and endocrine defects.
Mental retardation -- short stature -- deafness -- genital: A very rare syndrome characterized mainly by mental retardation, short stature, deafness and genital abnormalities.
Mental retardation -- unusual facies -- talipes -- hand anomalies: A very rare syndrome characterized mainly by mental retardation, unusual facial appearance, clubfoot and hand abnormalities.
Mental retardation X-linked syndromic 7: A very rare syndrome characterized mainly by mental retardation, obesity, hypogonadism and tapered fingers.
Mental retardation, X-linked -- hypogonadism -- ichthyosis -- obesity -- short stature: A rare X-linked disorder characterized by mental retardation, obesity, short stature, hypogonadism and a skin disorder. 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.
Mental retardation, X-linked -- hypotonic face: A group of syndromes characterized mainly by mental retardation and reduced tone in the facial muscles. Various other abnormalities may be present.
Mental retardation, X-linked, Cabezas type: A rare X-linked disorder characterized by mental retardation, muscle wasting, short stature and other problems. 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.
Mental retardation, X-linked, Vitale type: A rare disorder characterized by mental retardation and facial and skeletal 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 occurs on chromosome Xq24.
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.
Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance: A very rare syndrome characterized by moderate to severe mental retardation, unusual facial appearance and an underdeveloped brain.
Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity: A very rare syndrome characterized mainly by mental deficiency, epilepsy, small head, small genitals and obesity. Death occurs within the first two years of life.
Metaphyseal undermodeling, spondylar dysplasia, and overgrowth: A rare condition characterized by the association of skeletal anomalies and overgrowth. One of the three children observed with the condition died during adolescence.
Microcephaly -- hypergonadotropic hypogonadism -- short stature: A very rare syndrome characterized mainly by a small head, short stature and hypogonadism.
Microcephaly -- seizures -- mental retardation -- heart disorders: A very rare syndrome characterized mainly by a small head, seizures, mental retardation and heart disorders.
Microcephaly micropenis convulsions: A syndrome which is characterized by the association of symptoms such as abnormal facial appearance, short stature and psychomotor retardation.
Microphthalmia syndromic, type 6: A rare inherited syndrome characterized mainly by small eyes, malformed ears, small jaw and finger and genital abnormalities. The symptoms are variable to some degree.
Mild prostate blockage like symptoms: conditions which cause mild symptoms similar to that when there is a blockage to prostate secretions
Mild prostate pain symptoms: conditions which cause mild pain similar to that of pain due to a prostatic pathology
Mild prostate symptoms: mild symptoms related to the prostate includes slight pain on micturition, hestiatancy and frequency of micturition
Mild prostate-related urinary dribbling: weak urinary stream
Mild prostate-related urinary symptoms: Symptomsinclude urinary frequency, urgency, urgency incontinence, voiding at night (nocturia), weak urinary stream, hesitency (needing to wait for the stream to begin), intermittency (when the stream starts and stops intermittently), straining to void, dysuria (burning sensation in the urethra), and dribbling
Mild prostate-related weak urinary stream: weak urinary stream
Missing testicle: Absence of a testicle
Moebius axonal neuropathy -- hypogonadism: A very rare syndrome characterized mainly by facial paralysis due to problems with 6th and 7th nerve development (Moebius sequence) and hypogonadism.
Moynahan syndrome I: A rare disorder characterized mainly by multiple moles, underdeveloped genitals, short stature, mental deficiency and heart defect. The moles cover virtually the whole body.
Multiple endocrine abnormalities -- adenylyl cyclase dysfunction: A rare syndrome characterized by an enzyme defect (adenylyl cyclase) and a number of endocrine 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.
Muscular dystrophy -- congenital infantile cataract -- hypogonadism: A very rare syndrome characterized mainly by muscle wasting, infantile cataracts and hypogonadism.
Muscular dystrophy, congenital, infantile with cataract -- hypogonadism: A very rare syndrome characterized mainly by muscle wasting, infantile cataracts and hypogonadism.
Myhre-Ruvalcaba-Kelley syndrome: A rare recessively inherited X-linked disorder characterized by hearing impairment from birth and hypogonadism.
Myopathy with lactic acidosis and sideroblastic anemia: A rare disorder of the bone marrow and skeletal muscles which manifests as muscle disease and anemia. Progressive intolerance to exercise usually starts during childhood with anemia occurring around adolescence.
Naguib syndrome: A rare syndrome characterized mainly by wide-set eyes, hypospadias and extra fingers.

Conditions listing medical symptoms: Male reproductive symptoms:

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