TREATMENTS &
RESEARCH

Search the
latest
treatment
information
here.

Dr. Huntley's
Diagnosis
Checklist

Have a symptom?
See what questions
a doctor would ask.

Next Prev

Diseases » Holoprosencephaly » Glossary

Glossary for Holoprosencephaly

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.
Anophthalmos: A rare defect where one or both eyes are absent. The amount of eye socket tissue affected is variable.
Baycol - Teratogenic Agent: There is evidence to indicate that exposure to Baycol (a statin medication) 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.
Brain conditions: Medical conditions that affect the brain
Brain symptoms: Symptoms affecting the brain
Cerivastatin - Teratogenic Agent: There is evidence to indicate that exposure to Cerivastatin (a statin medication) 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.
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 13 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 13 rather than the normal two resulting in various abnormalities. Most die within months and there are few survivors after 10 years.
Chromosome 14q deletion syndrome: A rare chromosomal disorder involving deletion of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities.
Chromosome 17, deletion 17q23 q24: A rare chromosomal disorder involving deletion of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
Chromosome 19p duplication syndrome: A rare chromosomal disorder where the short arm of chromosome 19 is duplicated resulting in various abnormalities.
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 22q duplication syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is duplicated.
Chromosome 2p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
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 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 9q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 9 is deleted resulting in variable symptoms.
Cleft palate: Birth defect of lip and mouth.
Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
Dysgnathia complex: A very rare disorder characterized by a small or absent jaw, ear abnormalities and a small mouth and tongue. The severity and range of symptoms is variable.
Facial feature symptoms: Different facial features as symptoms
Franek-Bocker-Kahlen syndrome: A rare syndrome characterized mainly by a small head, brain defect, spasticity and high sodium level.
Gabapentin - Teratogenic Agent: There is evidence to indicate that exposure to Gabapentin 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.
Head symptoms: Symptoms affecting the head or brain
Hidradenitis Suppurativa: A bacterial skin infection that occurs when sweat glands become blocked. Inflamed, pus producing nodules develop and eventually cause scarring. Mainly affects sweat glands in the armpits, groin, breasts and anal areas.
Hing Torack Dowston syndrome: A rare syndrome that results in death due to severe malformations. The condition is similar to branchio-oculo-facial syndrome as it involves eye, facial and branchial abnormalities.
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.
Hypopituitarism: A disorder caused by reduced pituitary hormone levels. Hormones produce by the pituitary gland produces growth hormones, prolactin, thyroid stimulating hormone, antidiuretic hormone and others.
Insulin Dependent Diabetes Mellitus - Teratogenic Agent: There is strong evidence to indicate that the development of insulin dependent diabetes mellitus 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 stage of pregnancy that the exposure occurred at.
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.
Lip symptoms: Symptoms affecting one or both lips.
Lipobay - Teratogenic Agent: There is evidence to indicate that exposure to Lipobay (a statin medication) during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the level of exposure and the stage of pregnancy that the exposure occurred at.
Microcephaly: Small head circumference
Microcephaly brain defect spasticity hypernatremia: A rare syndrome characterized mainly by a small head, brain defect, spasticity and high sodium level.
Miscarriage: Loss of fetus without human interference
Morning Glory Fundus Anomaly - Optic Nerve Coloboma - Porencephaly - Hydronephrosis: A rare condition observed in a newborn and characterized by the association of particular eye, brain and kidney problems.
Pallister-Hall Syndrome: A rare genetic disorder characterized by hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and polydactyly.
Pseudotrisomy 13 syndrome: A very rare chromosomal disorder characterized mainly by abnormal forebrain development (holoprosencephaly), underdeveloped midface and extra fingers
Rubinstein-Taybi Syndrome: A rare congenital disorder characterized by very small stature, broad thumbs and toes, slanted palpebral fissures and hypoplastic maxilla.
Single upper central incisor: A very rare syndrome characterized by various defects in the middle of the face.
Smith-Lemli-Opitz Syndrome: A rare genetic condition involving a severe defect in the process of cholesterol synthesis resulting in low cholesterol levels in cells but high levels of the chemicals that are made into cholesterol.
Steinfeld syndrome: A very rare syndrome characterized by kidney abnormalities, single brain lobe and a heart defect.
Tretinoin (topical) - Teratogenic Agent: There is evidence to indicate that exposure to Tretinoin (topical) 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.
Trigonocephaly - ptosis - coloboma: A rare syndrome characterized by droopy eyelids, brain malformation, a triangular shaped prominent forehead and an eye abnormality.
Trimethoprim-Sulfamethoxazole - Teratogenic Agent: There is evidence to indicate that exposure to Trimethoprim-Sulfamethoxazole 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.
Triploid syndrome: A complete extra set of chromosomes.
Varicella Vaccine - Teratogenic Agent: There is evidence to indicate that exposure to Varicella Vaccine 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.