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Glossary for Fuqua-Berkovitz syndrome

  • 3-Beta-HSD, Deficiency of: A rare condition where the deficiency of a particular enzyme (3-Beta-Hydroxysteroid Dehydrogenase) results in reduced levels of adrenal hormones - mineralocorticoids, glucocorticoids and sex steroids. The condition results in variable degrees of salt wasting and abnormal sexual organ development depending on the level of deficiency.
  • 3-Beta-Hydroxysteroid Dehydrogenase deficiency: A rare condition where the deficiency of a particular enzyme (3-Beta-Hydroxysteroid Dehydrogenase) results in reduced levels of adrenal hormones - mineralocorticoids, glucocorticoids and sex steroids. The condition results in variable degrees of salt wasting and abnormal sexual organ development depending on the level of deficiency.
  • 3-Beta-Hydroxysteroid Dehydrogenase, Type II, Deficiency of: A rare condition where the deficiency of a particular enzyme (3-Beta-Hydroxysteroid Dehydrogenase) results in reduced levels of adrenal hormones - mineralocorticoids, glucocorticoids and sex steroids. The condition results in variable degrees of salt wasting and abnormal sexual organ development depending on the level of deficiency.
  • 3?-hydroxysteroid dehydrogenase deficiency: A ver rare form of congenital adrenal hyperplasia involving a deficiency of 3?-hydroxysteroid dehydrogenase which results in reduced production of adrenal steroids (mineralocorticoids, sex steroids and glucocorticoids). The disorder can occur in classical, non-salt wasting and late-onset varieties.
  • Acrofacial dysostosis -- ambiguous genitalia: A rare disorder characterized mainly by ambiguous genitals and abnormal development of bones in the face, jaw, hands and feet.
  • Ambiguous genitalia: A rare syndrome characterized by ambiguous genitalia involving normal testes and Mullerian structures.
  • Amitriptyline -- Teratogenic Agent: There is strong evidence to indicate that exposure to Amitriptyline during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Amphetamine -- Teratogenic Agent: There is strong evidence to indicate that exposure to Amphetamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Androgen Insensitivity Syndrome: Females with male XY genetics but inability to respond to testosterone.
  • 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.
  • Chondrodysplasia -- disorder of sex development: A very rare syndrome characterized mainly by severe dwarfism, abnormal bone development and central nervous system and eye problems.
  • Chondrodysplasia -- pseudohermaphrodism: A very rare syndrome characterized mainly by severe dwarfism, abnormal bone development and central nervous system and eye problems.
  • Chromosome 1, Terminal deletion: A genetic disorder where a portion of the genetic material from the long arm of chromosome 1 is missing. The symptoms or severity may vary somewhat between patients.
  • Chromosome 13 ring syndrome: A rare chromosomal disorder where genetic material from one or both ends of chromosome 13 is missing and the two broken ends have rejoined to form a ring. The resulting type and severity of symptoms is determined by the amount and location of genetic material missing.
  • Chromosome 13, Partial Monosomy 13q: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 13q deletion: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome 13q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Chromosome diploid-triploid mosaicism syndrome: A rare chromosomal disorder involving chromosomal duplication, triplication and mosaicism.
  • Congenital adrenal hyperplasia: Congenital genetic disease with insufficiency of the adrenal glands
  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Congenital conditions -- physical defects: Congenital (birth) defects causing a physical structure defect (rather than metabolic).
  • Danazol -- Teratogenic Agent: There is evidence to indicate that exposure to Danazol (used to treat endometriosis) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Danocrine -- Teratogenic Agent: There is evidence to indicate that exposure to Danocrine (used to treat endometriosis) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Deletion 13q: A rare chromosomal disorder where the long arm (q) of chromosome 13 is deleted resulting in various physical, neurological and developmental abnormalities. The type and severity of symptoms is determined by the amount and location of the deleted genetic material.
  • Desmosterolosis: A rare condition characterized by abnormal cholesterol biosynthesis where one of the intermediate products of cholesterol synthesis (desmosterol) is deposited in the body (plasma and other tissues). The condition also involves variable congenital anomalies which can be lethal in some cases.
  • Dextroamphetamine -- Teratogenic Agent: There is evidence to indicate that exposure to Dextroamphetamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Dincsoy-Salih-Patel syndrome: A very rare syndrome characterized mainly by a cleft lip and palate, brain abnormality, short limbs and genital abnormalities.
  • Ecstacy -- Teratogenic Agent: There is evidence to indicate that exposure to Ecstacy during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Ethisterone -- Teratogenic Agent: There is evidence to indicate that exposure to Ethisterone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Eunuchoidism familial: A rare inherited defect that affects production of gonadotropin which affects puberty and the development of secondary sexual characteristics.
  • Fertility conditions: Medical conditions relating to fertility, including infertility.
  • Fuqua-Berkovitz syndrome: A rare syndrome characterized by ambiguous genitalia involving normal testes and Mullerian structures.
  • German syndrome: A rare disorder caused by fetal exposure to trimethadione (anticonvulsant drug) and resulting in various physical and developemental abnormalities.
  • 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.
  • Hydroxyprogesterone -- Teratogenic Agent: There is evidence to indicate that exposure to Hydroxyprogesterone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Impossible syndrome: A very rare syndrome (only one reported case) characterized a range of severe malformations, premature birth and stillbirth.
  • Insulin -- Teratogenic Agent: There is evidence to indicate that exposure to Insulin during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Interferon Alpha -- Teratogenic Agent: There is evidence to indicate that exposure to Interferon Alpha during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • 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.
  • MDMA -- Teratogenic Agent: There is evidence to indicate that exposure to MDMA during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • McGillivray syndrome: A very rare syndrome characterized mainly by heart defects, skull and facial abnormalities and ambiguous genitalia.
  • Mental retardation -- short stature -- deafness -- genital: A very rare syndrome characterized mainly by mental retardation, short stature, deafness and genital abnormalities.
  • Methamphetamine -- Teratogenic Agent: There is evidence to indicate that exposure to Methamphetamine during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Nivelon-Nivelon-Mabille syndrome: A very rare syndrome characterized mainly by severe dwarfism, abnormal bone development and central nervous system and eye problems.
  • Osteogenesis imperfecta congenita, microcephaly, and cataracts: A rare genetic connective tissue disorder charactedrized by blue sclerae, cataracts and microcephaly - a lethal form of osteogenesis imperfecta.
  • Perineal hemangioma -- external genitalia malformations -- lipomyelomeningocele -- vesicorenal abnormalities -- imperforate anus: A term used to describe the association of infantile perineal hemangiomas with any of the following: external genitalia malformations, lipomyelomeningocele, vesicorenal abnormalities and imperforate anus.
  • Pfeiffer-Tietze-Welte syndrome: A very rare disorder characterized by mental retardation, split hand and premature fusion of the sagittal skull bones.
  • Progesterone -- Teratogenic Agent: There is evidence to indicate that exposure to Progesterone during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Reproductive conditions: Medical conditions of the reproductive system in men or women.
  • Rhabdomyomatous dysplasia -- cardiopathy -- genital anomalies: A very rare syndrome characterized mainly by genital anomalies, heart disease and lung problems.
  • SCARF syndrome: A rare syndrome characterized mainly by skeletal abnormalities, loose skin, premature fusion of skull bones, ambiguous genitalia, psychomotor retardation and facial abnormalities.
  • Sclerocornea, Syndactyly, ambiguous genitalia: A very rare syndrome characterized mainly by hardening of the corneas, webbed fingers and ambiguous genitalia.
  • Sexual Conditions: Any condition that affects sexual function
  • Short rib-polydactyly syndrome, Majewski type: A rare genetic disorder which is a lethal form of short-limb dwarfism and is characterized by short stature, disproportionately short limbs, extra fingers and toes and other deformities.
  • Smith-Lemli-Opitz syndrome, type 2: A rare birth disorder where an enzyme deficiency (7-dehydrocholesterol reductase) prevents cholesterol being metabolized properly. The condition causes a variety of physical abnormalities. Type II is a more severe form of the condition.
  • Tachipirina -- Teratogenic Agent: There is evidence to indicate that exposure to Tachipirina during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Tamoxifen -- Teratogenic Agent: There is evidence to indicate that exposure to Tamoxifen during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
  • Urorectal septum malformation sequence: A rare disorder characterized by fetal developmental problems involving the urorectal septum.
  • Weinstein Kliman Scully syndrome: A syndrome that is characterised by cardiomyopathy, hypogonadism and metablic anomalies
  • Wilms tumour and pseudohermaphroditism: A syndrome that is characterised by the occurrence of Wilms tumor with pseudohermaphroditism
  • XLAG syndrome: A rare syndrome characterized by genital anomalies and abnormal brain development which results in severe neurological symptoms. Epilepsy usually starts during infancy. The disorder is inherited in a X-linked manner so only males manifest the full severity of symptoms whereas female carriers are asymptomatic or suffer only mild symptoms.
  • XLMR-Hypotonic Facies Syndrome:

 

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