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Symptoms » Forehead symptoms » Glossary
 

Glossary for Forehead symptoms

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

  • 14q+ syndrome: A rare chromosomal disorder involving duplication of genetic material from the long arm (q) of chromosome 14 resulting in various abnormalities.
  • 1q proximal deletion: A rare chromosomal disorder where the proximal part of the long arm (q) of chromosome 1 is deleted resulting in various abnormalities.
  • 2p21 deletion syndrome: This syndrome is a more severe form hypotonia-cystinuria syndrome as a larger portion of genetic material from chromosome 2p21 is deleted. It is characterized by infant seizures, reduced muscle tone, developmental delay, lactic acidosis and unusual facial appearance.
  • 2q deletion: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • 3-Hydroxyisobutyric aciduria: A rare inborn metabolic disorder which causes brain and facial anomalies, seizures and growth problems.
  • 3C syndrome: A rare disorder characterized by cardiac malformations, cerebellar hypoplasia and cranial dysmorphism which gives the disease it's name.
  • 47,XXX syndrome: A genetic condition where females have an extra X chromosome in each of their cells. Normally female cells have two X chromosomes. This is not usually an inherited condition but a defect that occurs during cell division. Often the condition is asymptomatic.
  • AIDS dysmorphic syndrome: A rare syndrome involving craniofacial anomalies and developmental delay that occurs in infants infected with AIDS during the fetal stage.
  • Abidi X-linked mental retardation syndrome: A rare genetic disorder characterized by a number of physical abnormalities
  • Achondrogenesis: A type of dwarfism where the main limbs are short and the head and trunk are hydropic (contain an accumulation of clear fluid).
  • Achondroplasia: A rare disease characterized by abnormal bone growth which results in short stature with short arms and legs, large head and characteristic facial features.
  • Acne-like forehead symptoms: reddish raised elevated lesions on the forehaed
  • Acrocallosal syndrome: A rare genetic disorder characterized by underdeveloped or absent corpus callosum of brain, duplication of thumb or big toe and extra fingers or toes.
  • Acrocephalosyndactyly type 3 (ACPS 3): A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include brachycephaly, ear deformities as well as craniofacial, finger and bone abnormalities.
  • Acrofacial dysostosis Rodriguez type: One of a group of disorders characterized by defective limb and facial development. The Rodriguez type is very rare and primarily involves severe limb and organ malformations.
  • Acrofacial dysostosis postaxial, atypical: A rare disorder characterized by an unusual facial appearance, short stature and hand and foot bone anomalies. The disorder may be related to the fact that the infants were born to mothers with diabetes.
  • Acrofacial dysostosis, Palagonia type: One of a group of disorders characterized by defective limb and facial development. The Palagonia type is very rare and the symptoms are relatively mild.
  • Acrofrontofacionasal dysostosis syndrome: A very rare syndrome characterized by abnormalities of the bones of the skeleton as well as mental retardation. Various facial, eye and urogenital anomalies are also present.
  • Acromesomelic dysplasia, Maroteaux type: A rare genetic syndrome characterized by various developmental abnormalities of the skeletal bones and facial anomalies.
  • Acrosphenosyndactylia: A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused together.
  • Acutane embryopathy: A rare disorder caused by fetal exposure to retinoids and resulting in mental and physical birth defects.
  • Acute acne-like forehead symptoms: reddish raised elevated lesions on the forehaed
  • Acute pimples on forehead: acne is a disorder of the pilosebaceous unit. The inflammatory process varies from a papule, pustule to a nodule
  • Adducted thumbs Dundar type: A rare disorder characterized by a thumb abnormality as well as mental retardation, foot defects and other anomalies.
  • Aicardi syndrome: A rare genetic disorder where the structure connecting the two halves of the brain fails to develop which results in seizures and eye abnormalities .
  • Akaba-Hayasaka syndrome: A very rare syndrome characterized mainly by a prominent forehead, cloudy corneas, low nasal bridge, underdeveloped chest and short limbs.
  • 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.
  • Albers-Schonberg disease -- Adult benign dominant form: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The adult benign form is associated with a normal life expectancy and is often asymptomatic.
  • Albers-Schonberg disease -- intermediate form: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The intermediate form is more severe than the adult form but less severe than the infantile form. Life expectancy is usually normal.
  • Albers-Schonberg disease -- malignant recessive form: A rare disorder characterized primarily by increased bone density as old bone is not resorbed and replaced with new bone - is also known as marble bone disease. The malignant infantile form is the most severe form of this disorder and death usually occurs in the first decade of life.
  • Allain Babin Demarquez syndrome: A rare syndrome characterized by premature fusion of skullbones, abnormal development of skeletal bones and hypertension.
  • Alpha-Mannosidosis: A rare condition which is characterized by a lysosomal storage defect.
  • Ampola syndrome: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
  • André syndrome: A rare fatal syndrome characterized mainly by bone calcification abnormalities and facial anomalies. Death usually occurs within weeks of birth.
  • Aniridia -- renal agenesis -- psychomotor retardation: A rare genetic disorder characterized by missing irises of the eye, kidney developmental problems and mental retardation.
  • Anophthalmia -- hand and foot defects -- mental retardation: A rare syndrome characterized mainly by mental retardation, hand and foot defects and absent eyes.
  • 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.
  • Antley-Bixler Syndrome: A rare genetic disorder characterized by premature closing of skull bones, choanal atresia and craniofacial and limb abnormalities.
  • Antley-Bixler-like syndrome -- ambiguous genitalia -- disordered steroidogenesis: A rare genetic disorder involving a deficiency of an enzyme (cytochrome P450 oxidoreductase) which causes steroid abnormalities. The condition results in ambiguous genitalia in females due to excessive androgen during fetal growth. Patients can also have the bone symptoms of Antley-Bixler syndrome.
  • Aortic supravalvular stenosis: A rare congenital condition involving increased intestinal calcium absorption and characterized by development delay, distinctive facial features, small nails and short stature.
  • Apert syndrome: A rare condition characterized by abnormalities in the appearance of the face and head as well as finger and toe abnormalities. The bones of the skull fuse together too early which prevents it from growing normally. Various toes and fingers may be fused together.
  • Arthritis -- short stature -- deafness: A very rare syndrome characterized by arthritis, short stature, deafness and numerous other abnormalities.
  • Arthrogryposis IUGR thoracic dystrophy: A very rare syndrome characterized by congenital joint contractures, intrauterine growth retardation (IUGR) and ribcage abnormalities.
  • Atelosteogenesis Type III: A very rare inherited skeletal ossification disorder. Unlike types I and II, survival past infancy is possible in type III.
  • Atkin-Flatiz syndrome: A rare, X-linked syndrome characterized mainly by mental retardation and facial anomalies.
  • Aughton syndrome: A very rare syndrome characterized primarily by small eyes, cleft palate, mental retardation and dextrocardia (heart located on right side of chest instead of left).
  • Aural atresia -- multiple congenital anomalies -- mental retardation: A rare syndrome characterized by a number of malformations as well as mental retardation.
  • Auralcephalosyndactyly: A very rare syndrome characterized by ear abnormalities, premature fusion of skull bones and syndactyly (fusion of digits).
  • Axenfeld-Rieger anomaly -- hydrocephaly -- skeletal abnormalities: A rare syndrome characterized mainly by skeletal abnormalities, excess fluid inside the skull and eye anomalies.
  • BBB syndrome, X-linked: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: type I is inherited in a X-linked manner and type II is inherited in an autosomal dominant manner. Females with type I tend to have few if any symptoms - often the only symptom is wide-set eyes.
  • Bartter's syndrome, antenatal type 1: A rare genetic kidney disorder that causes hypokalemia. A defect in the NKCC2 gene impairs the functioning of the Na-Cl cotransporter and leads to electrolyte imbalance. The rate of death is high prior to diagnosis.
  • Bd syndrome: A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder.
  • Bisoprolol -- Teratogenic Agent: There is strong evidence to indicate that exposure to Bisoprolol 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.
  • Blepharophimosis -- nasal groove -- growth delay: A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove.
  • Blepharophimosis -- nasal groove -- growth retardation: A very rare syndrome characterized mainly by eyelid abnormalities, retarded growth and a nasal groove.
  • Blepharoptosis -- aortic anomaly: A rare disorder characterized mainly by the presence of droopy upper eyelids and an abnormal aorta.
  • Bone dysplasia -- corpus callosum agenesis: A very rare syndrome characterized mainly by abnormal brain development and bone growth abnormalities.
  • Bone fragility, craniosynostosis, proptosis, hydrocephalus: A very rare genetic disorder characterized by fragile bones, premature closure of skull bones, protruding eyeballs and fluid buildup in the skull.
  • Bone symptoms: Symptoms affecting the body's bones
  • Brachycephalofrontonasal dysplasia: A very rare syndrome characterized primarily by widely spaced eyes and other head and face abnormalities.
  • Broad forehead: A broad forehead is a forehead that is wider or larger than average.
  • Brow ache: The occurrence of an ache located in the brow
  • Brow bleeding: Bleeding from the brow - usually occurs due to physical injury.
  • Brow blister: Small raised fluid filled lesions seen along the brow area.
  • Brow bruise: Injury or trauma to the brow which is often characterized by ruptured blood vessels and discolorations.
  • Brow burning sensation: Abnormal burning sensations felt along the brow area.
  • Brow deformity: Alteration or distortion in the normal appearance of the brow area.
  • Brow infection: Infection of the brow area.
  • Brow inflammation: Inflammation of the brow area.
  • Brow lump: Raised irregular small swelling along the brow area.
  • Brow numb: Abnormal sensation of numbness felt along the brow area.
  • Brow redness: Redness along the brow area.
  • Brow spasm: Abnormal contraction of the muscle of the brow area.
  • Brow swelling: Swelling along the brow area.
  • Brow tingling: Abnormal tingling sensations felt along the brow area.
  • Brow ulcer: Break in the continuity of the skin along the brow area.
  • Brow weakness: Weakness in the musculature along the brow area.
  • C Syndrome: A rare inherited disorder characterized by a triangular-shaped head, facial anomalies, joint contractures and loose skin.
  • Camera-Marugo-Cohen syndrome: A rare syndrome characterized mainly by mental retardation, muscle weakness, obesity and an asymmetrical body.
  • Cantu Sanchez-Corona Garcia-cruz syndrome: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities.
  • Cantu syndrome: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities.
  • Cantú syndrome: A rare syndrome characterized mainly by excessive growth of hair, enlarged heart and abnormal development of bone and cartilage
  • Cat Eye Syndrome: A rare chromosomal disorder involving abnormalities of chromosome 22 and characterized by coloboma of the iris, down-slanting palpebral fissures and anal atresia.
  • 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.
  • Char syndrome: A very rare genetic disorder characterized mainly by an unusual facial appearance, abnormal little fingers and a heart abnormality.
  • Chitayat Meunier Hodgkinson syndrome: A very rare syndrome characterized by face and finger abnormalities
  • Chitayat-Moore-Del Bigio syndrome: A rare birth disorder characterized mainly by brain abnormalities, large head and facial anomalies.
  • Chondrodysplasia, type Nance-Sweeney: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
  • Chorioretinopathy dominant form -- microcephaly: A rare inherited disorder characterized by a small head, mental retardation and a degenerative eye condition.
  • Chromosome 1, 1p36 deletion syndrome: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as heart problems, mental retardation, developmental delay, facial dysmorphism and short stature. The symptoms are variable depending on the exact location of chromosomal deletion.
  • Chromosome 1, Partial Trisomy: A rare genetic disorder where part of the genetic material from chromosome 1 is duplicated so there are three copies in the body's cells rather than the normal two copies. The type and severity of symptoms is variable depending on the size and location of the genetic material duplicated.
  • Chromosome 1, deletion q21 q25: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as retarded fetal growth, osteoporosis, facial anomalies and hearing loss.
  • Chromosome 1, duplication 1p21 p32: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as short stature, newborn or fetal death, small head, undescended testes and various facial abnormalities.
  • Chromosome 1, proximal deletion:
  • Chromosome 1, trisomy 1q42 qter: A rare chromosomal disorder where duplication of a portion of chromosome 1 causes various abnormalities such as clubfoot, poor muscle tone, neurological dysfunction, short stature, mental retardation and narrowing of the pulmonary arteries and valves.
  • Chromosome 1, uniparental disomy 1q12 q21: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 10, Monosomy 10p:
  • Chromosome 10, trisomy 10p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 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 10, trisomy 10pter p13: A rare chromosomal disorder where duplication of a portion of chromosome 10 causes various abnormalities such as a wasted build, gut and heart placement abnormalities and lack of reflexes.
  • Chromosome 10p deletion syndrome: A rare chromosomal disorder where there is a deletion of the short arm (p) of chromosome 10 resulting in variable abnormalities.
  • Chromosome 10p duplication syndrome: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 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 10p duplication/10q deletion syndrome: A rare chromosomal disorder where a section of the short arm (p) of chromosome 10 is duplicated and a section of the long arm (q) of chromosome 10 is deleted resulting in various abnormalities.
  • 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 12, trisomy 12q: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is 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 12p tetrasomy syndrome: A rare chromosomal disorder where there are four copies of the short arm (p) of chromosome 12 rather than the normal two resulting in various abnormalities.
  • Chromosome 12q duplication syndrome: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy.
  • 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 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 13q duplication syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 13 is duplicated resulting in various physical, neurological and developmental abnormalities.
  • 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, 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 14q, terminal deletion: A very rare syndrome caused by a deletion of a part of the material on chromosome 14 and resulting in various abnormalities such as mental retardation and short fingers.
  • Chromosome 14q, terminal duplication: A very rare syndrome caused by a duplication of a part of the material on chromosome 14 and resulting in various abnormalities such as retarded growth, hearing loss and mental retardation.
  • 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 tetrasomy syndrome: A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 instead of the normal two resulting in various abnormalities.
  • Chromosome 15q, partial duplication (distal q arm): A rare chromosomal disorder involving an extra copy of genetic material from the distal part of 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, tetrasomy: A rare chromosomal disorder where there are four copies of a portion of the long arm of chromosome 15 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 involved.
  • 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 16q, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 16. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material. Severe cases often result in spontaneous abortion or infant death.
  • Chromosome 17p, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
  • Chromosome 17p, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
  • Chromosome 17q, partial duplication: A rare chromosomal disorder involving an extra copy 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 duplicated genetic material.
  • Chromosome 18, Tetrasomy 18p: A rare chromosomal disorder where there are four copies of short arm of chromosome 18 instead of the normal two which results in various genital, kidney, digital, head and face abnormalities.
  • Chromosome 1p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 1 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 1q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 1 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 1q21.1 Deletion Syndrome: A rare chromosomal disorder caused by the deletion of a portion of chromosome 1 at a specific location (1q21.1). The main symptoms were mental retardation and various physical anomalies. The manifestations in individuals is quite variable.
  • Chromosome 1q21.1 Duplication Syndrome: A rare chromosomal disorder caused by the duplication of a portion of chromosome 1 at a specific location (1q21.1). The main symptoms were autism and mental retardation as well as other physical anomalies.
  • Chromosome 2 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 2 instead of the normal two.
  • Chromosome 2, monosomy 2q: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 2, monosomy 2q37: A very rare chromosomal disorder where a part of the long arm of chromosome 2 is missing which results in various birth defects and abnormalities. The features of the disorder are determined by the exact size and location of the deletion.
  • 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 monosomy: A rare chromosomal disorder where there is only one copy of chromosome 21 instead of the normal two leading to various abnormalities.
  • 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 mosaic: A rare chromosomal disorder where three copies of chromosome 22 are present in some of the body's cells instead of the normal two. Severity of symptoms is determined by how many cells have the extra chromosomal material.
  • Chromosome 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 deletion: A rare genetic disorder where a portion of the genetic material from the long arm of chromosome 22 is missing. The symptoms or severity may vary somewhat between patients.
  • Chromosome 22q deletion syndrome: A rare chromosomal disorder where the long arm of chromosome 22 is deleted resulting in various abnormalities.
  • 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 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, 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, Monosomy 4q: A rare chromosomal disorder where a portion of the long arm (q) of chromosome 4 is missing resulting in various abnormalities.
  • Chromosome 4, trisomy 4q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 4q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
  • Chromosome 5q deletion syndrome: A rare chromosomal disorder where the long arm (q) of chromosome 5 is deleted resulting in various abnormalities.
  • Chromosome 6, monosomy 6p23: A very rare chromosomal disorder characterized by various abnormalities including mental retardation, facial, finger and toe anomalies as well as heart, skeletal and neurological problems.
  • Chromosome 6, trisomy 6q: 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 6pter-p24 Deletion Syndrome: A rare genetic syndrome characterized by deletion of genetic material in the chromosomal region 6pter-p24.
  • 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, Partial Deletion of Short Arm: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
  • Chromosome 7, deletion 7q2: A rare chromosomal disorder involving the deletion of a portion of the long arm of chromosome 7.
  • Chromosome 7, monosomy 7q2: A rare chromosomal disorder involving the deletion of a portion of the long arm of chromosome 7.
  • Chromosome 7, partial monosomy 7p: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
  • Chromosome 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 deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Chromosome 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 7q partial deletion: A rare chromosomal disorder involving deletion of the long arm (q) of chromosome 7 which results in various abnormalities depending on the size and location of the portion of deleted genetic material.
  • Chromosome 8 ring: A rare chromosomal disorder involving chromosome 8 which causes various abnormalities such as mental retardation, ureter anomalies, finger defects and facial dysmorphism.
  • Chromosome 8 trisomy syndrome: A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results in various abnormalities.
  • Chromosome 8, monosomy 8p: A rare chromosomal disorder involving deletion of genetic material from the short arm (p) of chromosome 8 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 8, mosaic trisomy: A very rare chromosomal disorder where there is an extra copy of chromosome 8 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
  • Chromosome 8, trisomy: A rare chromosomal disorder where there are three copies of chromosome 8 rather than the normal two which results 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 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 8p inverted duplication syndrome: A rare chromosomal disorder involving the inverted duplication of the short arm (p) of chromosome 8 resulting in three copies of the genetic material instead of the normal two. The type and severity of symptoms is determined by the location and size of the duplication.
  • Chromosome 8p mosaic tetrasomy: A rare chromosomal disorder where a part of the short arm of chromosome 8 is repeated four times in some of the body's cells instead of the normal two resulting in various abnormalities.
  • Chromosome 8q deletion syndrome: A rare chromosomal disorder where a part of the long arm (q) of chromosome 8 is deleted resulting in various abnormalities depending on the location and length of missing genetic material.
  • 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 9q: A very rare genetic disorder where a portion of the genetic material on the long arm (q) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
  • Chromosome 9, trisomy 9q32: A rare chromosomal disorder where duplication of a portion of chromosome 9 causes various abnormalities such as short stature and mental retardation and facial anomalies.
  • 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: A very rare genetic disorder where a portion of the genetic material on the long arm (q) of chromosome 9 is duplicated which results in various abnormalities. The type and severity of symptoms varies depending on the size and location of the genetic material involved.
  • Chromosome 9q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 9 resulting in various abnormalities.
  • Chromosome 9q duplication/chromosome 9p deletion syndrome: A rare chromosomal disorder where part of the long arm (q) of chromosome 9 is duplicated and part of the short arm (p) is deleted resulting in various abnormalities. These chromosomal abnormality occurs in only some of the body's cells (mosaicism).
  • Chromosome diploid-triploid mosaicism syndrome: A rare chromosomal disorder involving chromosomal duplication, triplication and mosaicism.
  • Chronic acne-like forehead symptoms: reddish raised elevated lesions on the forehaed
  • Chronic pimples on forehead: acne is a disorder of the pilosebaceous unit. The inflammatory process varies from a papule, pustule to a nodule
  • Cleidocranial dysplasia: A rare genetic disorder characterized by collarbone defects, late ossification of cranial sutures and delayed tooth eruption.
  • Collins-Sakati syndrome: A very rare syndrome characterized mainly by a short, broad toe and a large head.
  • Complex 5 mitochondrial respiratory chain deficiency: A rare genetic defect where an enzyme deficiency (ATP synthetase) disrupts cellular processes. Any of a variety of the components of the enzyme may be missing or defective and hence the clinical presentation and severity may vary. The deficiency may result in a variety of symptoms and conditions of variable severity such as Leber's myopathy, Leigh syndrome, cardiomyopathy and NARP (neuropathy, ataxia, retinitis pigmentosa).
  • Corneal anesthesia deafness intellectual deficit: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
  • Corneal anesthesia deafness mental retardation: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
  • Corneal hypesthesia deafness intellectual deficit: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
  • Cortical blindness -- mental retardation -- polydactyly: A very rare syndrome characterized by mental retardation, extra fingers and vision loss.
  • Cranio-facio-cardio-skeletal dysplasia: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and facial and skeletal abnormalities.
  • Cranioectodermal dysplasia: A rare condition involving various congenital deformities such as short stature, long head, widely spaced eyes and teeth abnormalities.
  • Craniofacial dysostosis type 1: A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include poor vision, hypoplasia of maxilla an impaired hearing.
  • Craniofacial dyssynostosis: A very rare syndrome characterized primarily by the premature fusion of certain skull bones which gives the head an abnormal shape and also causes unusual facial features.
  • Craniofaciocardioskeletal syndrome: A very rare syndrome characterized by facial, skull, heart and skeletal abnormalities.
  • 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.
  • Craniolenticulosutural dysplasia: A rare syndrome characterized by skeletal defects and an unusual facial appearance consisting mainly of a prominent forehead, wide-set eyes, broad nose and a prominent forehead with a birthmark.
  • Craniometadiaphyseal dysplasia, wormian bone type: A rare syndrome characterized by various skeletal and skull anomalies.
  • Craniosynostosis exostoses nevus epibulbar dermoid: A rare syndrome characterized by the premature fusion of skull bones, excessive bone growth (hyperostosis), epibulbar dermoids (benign eye tumor) and a skin disorder (linear verrucous epidermal nevus). Patients with this condition need to avoid using aminoglycosides as they can have a negative impact on hearing.
  • Craniosynostosis mental retardation clefting syndrome: A rare disorder characterized by premature fusion of the skull bones (craniosynostosis), mental retardation a cleft lip and/or palate.
  • Craniotelencephalic dysplasia: A very rare syndrome characterized primarily by premature fusion of various skull bones and abnormal brain development.
  • Craniotubular syndrome: A rare syndrome characterized mainly by bone overgrowth and sclerosis or hardening which affects mainly the skull but other bones are often involved as well. Craniodiaphyseal dysplasia is a similar condition but involves less severe hyperostosis and sclerosis.
  • Crouzon Syndrome: A condition which is characterized by craniofacial dysostosis
  • Cystic fibrosis -- gastritis -- megaloblastic anaemia: A rare syndrome characterized mainly by cystic fibrosis, metaloblastic anemia, mental retardation and gastritis due to helicobacter pylori.
  • Dandy Walker syndrome recessive form: A rare recessively inherited brain malformation where a cyst develops in the brain which can interfere with the drainage of cerebrospinal fluid and lead to hydrocephalus. The severity of the condition is variable and symptoms tend to only occur if the fluid builds up inside the skull.
  • Dandy-Walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy: A very rare syndrome characterized mainly by mental retardation, large head, short fingers, nearsightedness and brain abnormalities (Dandy-Walker type).
  • Davis-Lafer syndrome: A very rare syndrome characterized mainly by mental retardation and unusual facial features.
  • De Barsy Syndrome: A rare inherited disorder characterized by loose, inelastic skin, involuntary limb movements, cloudy corneas and other abnormalities.
  • Deafness -- craniofacial syndrome: A very rare syndrome characterized mainly by deafness and abnormalities of the skull and face.
  • Del (2) (p25.1-p23.3): A rare chromosomal disorder characterized by variable abnormalities which makes the condition poorly defined. Observations were made on two reported cases.
  • Del (2) (q14-q21): 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 (2) (q23.3-q24.2): 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.
  • Del (2) (q37.1-qter): 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.
  • Del(1) (23-q25): A very rare chromosomal disorder where a portion of the long arm (23q-q25) of chromosome one is missing.
  • 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 membranous cranial ossification: A very rare syndrome characterized mainly by abnormal calcification of the skull.
  • 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 2q: A rare chromosomal disorder where part of the long arm (q) of chromosome 2 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
  • Deletion 8p: A rare chromosomal disorder involving deletion of genetic material from the short arm (p) of chromosome 8 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.
  • Deletion of the Short Arm of Chromosome 1: A condition characterized by deletion of the short arm of chromosome 1
  • Dennis cohen syndrome: A rare syndrome characterized mainly by unusual facial appearance, mental retardation, short stature and sparse hair.
  • 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.
  • Developmental problems: Physical or mental development difficulty.
  • Diaphoresis of the forehead: excessive sweating commonly associated with shock
  • Diaphragmatic hernia -- exomphalos -- corpus callosum agenesis: A very rare syndrome characterized mainly by a diaphragmatic hernia (defect in the diaphragm that allows some of the abdominal organs to move into the chest cavity), brain development abnormalities and deafness.
  • Digitorenocerebral syndrome: A very rare syndrome characterized by numerous abnormalities involving the brain, kidneys, fingers, toes, nails and face as well as mental retardation and vision impairment.
  • Diphallus -- rachischisis -- imperforate anus: A very rare syndrome characterized mainly by genital abnormalities, absent anal opening and malformed vertebrae.
  • Distinctive Craniofacial Features -- Pterygia -- Mental Retardation: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
  • Dup (1) (q25-qter) and del (18p): A very rare chromosomal disorder (single reported case) where the end portion of the long arm (q25-qter) of chromosome one is duplicated and the short arm of chromosome 18 is missing.
  • Dup (1) (q32-qter) and del (7)(q32-qter): A very rare chromosomal disorder where a portion of the long arm (q32-qter) of chromosome one is duplicated and the long arm of chromosome 7 (q32) is deleted. There have only been a couple of reported cases and symptoms may vary somewhat between patients.
  • Dup (1) (q42-qter) & del (18p): A rare chromosomal disorder which manifests as various physical and mental abnormalities. Patients tend to die within the first couple of decades but the condition is poorly defined.
  • Dup (2) (p24.2-p21.0): 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-p21) and del (1) (q43-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.
  • Dup (3) (pter-p23): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in fifteen reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (3) (pter-p24) and del (4) (pter-p16): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in six reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Dup (3) (pter-p25): A rare chromosomal disorder characterized by various anomalies. The listed symptoms are those observed in nine reported cases. The manifestations linked to most genetic defects are often variable to some degree.
  • Duplication 10p: A rare chromosomal disorder where there are three copies of the short arm (p) of chromosome 10 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.
  • Duplication 12q: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
  • 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 6q: 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.
  • 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.
  • 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 anhidrotic: A rare inherited condition involving skin, hair, teeth and nail abnormalities. The condition is characterized by the absence of sweat and sebaceous glands, underdeveloped hair and teeth, characteristic face and other physical deformities.
  • Edinburgh malformation syndrome: A rare syndrome characterized mental and physical retardation, infant death and various other abnormalities.
  • Enlarged forehead: An increase in the size of a persons forehead anatomically
  • Enlarged supraorbital ridge: increase in the thickness of the supraorbital ridge
  • Epimetaphyseal skeletal dysplasia: A rare syndrome characterized mainly by abnormal bone development.
  • FG Syndrome: A rare genetic disorder characterized by anal abnormalities, reduced muscle tone and a prominent forehead.
  • FG syndrome 1: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 1, the genetic defect is located on chromosome Xq12-q21.31.
  • FG syndrome 2: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 2, the genetic defect is located on chromosome Xq28.
  • FG syndrome 3: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 3, the genetic defect is located on chromosome Xp22.3.
  • FG syndrome 4: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 4, the genetic defect is located on chromosome Xp11.4-p11.3.
  • FG syndrome 5: A rare inherited disorder characterized by anal abnormalities, reduced muscle tone and abnormal brain development. In type 5, the genetic defect is located on chromosome Xq22.3.
  • Face symptoms: Symptoms affecting the face
  • Faciodigitogenital syndrome, recessive form: A rare syndrome characterized by facial, digital and genital abnormalities.
  • Facioskeletalgenital syndrome, Rippberger type: A rare syndrome characterized by facial, skeletal and genital abnormalities.
  • Fitzsimmons-McLachlan-Gilbert syndrome: A very rare syndrome characterized mainly by mental retardation paraplegia and thickened coarse skin on palms and soles.
  • Forehead bleeding: Bleeding from the forehead - usually occurs due to trauma.
  • Forehead blister: Raised fluid filled lesions less than 0.5mm in diameter on the forehead.
  • Forehead bruise: Injury or trauma to the forehead which is often characterized by ruptured blood vessels and discolorations.
  • Forehead burning sensation: Abnormal burning sensations felt on the forehead.
  • Forehead cold: Abnormal sensation of coldness felt on the forehead.
  • Forehead deformity: Distortion of malformation of the facial features either congenital or acquired in nature.
  • Forehead enlargement: broad forehead seen in infants .
  • Forehead infection: Infection involving the forehead.
  • Forehead inflammation: Inflammation which occur in the forehead area.
  • Forehead itch: Unpleasant sensation of scratching the forehead.
  • Forehead lump: Small irregular swelling on the forehead.
  • Forehead numb: Abnormal sensation of numbness felt on the forehead.
  • Forehead pain: Headache is one of the most common symptoms encountered on a daily basis by the physician.
  • Forehead rash: Raised erythematous lesions seen on the forehead.
  • Forehead redness: Redness of the forehead area - usually due to inflammation or infection.
  • Forehead sensitive: Increased responsiveness of the forehead to the any external stimuli.
  • Forehead spasm: Involuntary contractions of the muscles in the forehead.
  • Forehead swelling: Swelling of the forehead.
  • Forehead tingling: Abnormal tingling sensations felt on the forehead.
  • Forehead ulcer: Break in the lining epithelium of the skin on the forehead.
  • Forehead weakness: Weakness of the muscles of the forehead.
  • Francois dyscephalic syndrome: A rare genetic disorder characterized by very small stature, microphthalmia, small pinched nose and hypotrichosis.
  • Frank-Ter Haar syndrome: A rare genetic bone disorder characterized by skeletal abnormalities, enlarged corneas and characteristic facial abnormalities.
  • Frontal bossing: Frontal bossing is an abnormally large forehead.
  • Fryns macrocephaly: A rare syndrome characterized by a large head, seizures, spasticity, weakness and unusual facial appearance.
  • Fucosidosis type 1: A rare biochemical disorder involving deficiency of an enzyme (alpha-fucosidase) which results in accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues. It is an infantile form of fucosidosis which starts early and rapidly progresses to early death.
  • Fucosidosis type II: A form of the biochemical disorder called fucosidosis where an enzyme deficiency (alpha-fucosidase) results in the accumulation of certain chemicals (glycosphingolipids) in the central nervous system and other body tissues. Symptoms start later and progress slower than in type I and is distinguished by warty skin growths.
  • GAPO syndrome: A rare condition characterized by retarded growth, alopecia, otpic atrophy and failure of teeth to erupt.
  • Glass chapman hockley syndrome de: A rare syndrome characterized mainly by short fingers, facial anomalies and premature fusion of skull bones giving the head an abnormal shape.
  • Glass-Chapman-Hockley syndrome: A rare syndrome characterized mainly by short fingers, facial anomalies and premature fusion of skull bones giving the head an abnormal shape.
  • Gollop syndrome: A rare syndrome characterized mainly by eye, ear, facial and nasal abnormalities.
  • Gonadal dysgenesis XY type associated anomalies: A very rare syndrome characterized mainly by a large range of variable physical abnormalities and gonad anoamlies.
  • Greig Cephalopolysyndactyly Syndrome: A rare genetic disorder characterized by premature closing of skull bones and craniofacial abnormalities, finger and toe abnormalities.
  • 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.
  • Hallermann-Streiff Syndrome: A condition which affects stature, head shape and hair growth
  • 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
  • Hereditary pyropoikilocytosis: A rare inherited condition where abnormal red blood cells are very sensitive to heat resulting in their destruction and hence, hemolytic anemia.
  • Hersh-Podruch-Weisskopk syndrome: A very rare syndrome characterized mainly by progressive retinal damage, mental retardation and deafness.
  • 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.
  • 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.
  • Hunter-MacDonald syndrome: A rare syndrome characterized by multiple skeletal abnormalities, short stature, unusual facial features, hearing loss and a predisposition for developing meningiomas.
  • Hyde-Forster-Mccarthy-Berry syndrome: A very rare syndrome characterized mainly by mental retardation and an abnormal skull shape.
  • Hydrocephalus: A condition which is characterized by marked dilatation of the cerebral ventricles
  • Hyper IgE: Inherited immunodeficiency disorders involving excessive production of IgE and frequent bacterial (staphylococcal) infections mainly involving the skin as well as other problems. Recessively inherited forms of the condition tend to be more serious with bone problems.
  • Hypertelorism -- esophageal abnormalities -- hypospadias: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: one is inherited in a X-linked manner and the other is inherited in an autosomal dominant manner. Females with the X-linked form of the condition tend to have few symptoms and often only have wide set eyes.
  • Hypertelorism with esophageal abnormality and hypospadias: A congenital disorder characterized by distinctive facial features, genital abnormalities, esophageal defect and difficulty swallowing. Males are more severely affected than females.
  • Hypertrichotic osteochondrodysplasia: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and various other abnormalities.
  • Hypohidrotic Ectodermal Dysplasia: An inherited disorder involving the developmental abnormalities during the fetal stage that can affect the skin, hair, nails, teeth and sweat glands. This form of ectodermal dysplasia is characterized by a reduced ability to sweat due to a lack of sweat glands or dysfunction of present sweat glands.
  • Hypospadias -- hypertelorism: A congenital disorder characterized by distinctive facial features, genital abnormalities, esophageal defect and difficulty swallowing. Males are more severely affected than females.
  • Hypothyroidism -- dermoid cyst -- cleft palate: A rare syndrome characterized by primary hypothyroidism, dermoid cyst, cleft palate and other abnormalities.
  • I cell disease: A rare inherited biochemical disorder characterized by the harmful accumulation of chemicals (glycoproteins and glycoplipids) due to the deficiency of an enzyme (UDP-N-acetylglucosamine-I-phosphotransferase).
  • IMAGe syndrome: A rare syndrome characterized by retarded fetal growth, abnormal bone development, underdeveloped adrenal glands and genital abnormalities.
  • Imaizumi Kuroki syndrome: A very rare syndrome characterized mainly by premature skull fusion and forearm abnormalities.
  • Infant symptoms: Symptoms affecting babies and infants.
  • Infantile Neuroaxonal Dystrophy: A condition which is characterized by a slowly progressive mental and neurological condition affecting infants or young children
  • Infantile multisystem inflammatory disease: A rare autoinflammatory disease characterized by fever, rash, arthritic changes, eye problems and chronic meningitis.
  • Intermittent acne-like forehead symptoms: reddish raised elevated lesions on the forehaed
  • Intermittent pimples on forehead: acne is a disorder of the pilosebaceous unit. The inflammatory process varies from a papule, pustule to a nodule
  • 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.
  • Ischiadic hypoplasia -- renal dysfunction -- immunodeficiency: A rare disorder characterized by abnormal kidney function, immunodeficiency and an underdeveloped
  • Jackson-Weiss Syndrome: A rare inherited disorder involving bone abnormalities such as fusion of upper foot bones and premature fusion of skull bones which prevents the skull from growing normally. Symptoms can range from mild to severe.
  • Jarcho-Levin Syndrome: A rare genetic disorder characterized by spinal column abnormalities, dwarfism and a swollen abdomen as well as other anomalies.
  • Juvenile Paget's Disease:
  • Kaler-Garrity-Stern syndrome: A very rare syndrome characterized mainly by osteopenia, mental retardation and sparse hair.
  • Kaplan-Plauchu-Fitch syndrome: A very rare syndrome characterized mainly by cone-shaped skull, short stature, deafness and various facial and digital abnormalities.
  • Krause-Kivlin syndrome: A rare genetic disorder characterized by short limb dwarfism, mental retardation and Peters anomaly.
  • Kurczynski-Casperson syndrome: A very rare syndrome characterized mainly by premature fusion of skull bones, abnormal ears and webbing of the last two toes.
  • Lambdoid synostosis familial: Premature fusion of certain skull bones that results in the back of the head being flat. In familial cases, it tends to run in families and other abnormalities are occasionally associated.
  • 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-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.
  • Larsen syndrome: A rare genetic disorder characterized by multiple joint dislocation, a flat face and short fingernails.
  • Larsen syndrome, dominant type: A congenital, genetic disorder characterized by many abnormalities including joint dislocations, bone abnormalities and an unusual dish-shaped face. The dominant form tends to have less severe dwarfism and more severe flattening of the face and is less likely to include webbed fingers, cleft palate and genital anomalies than the recessive form.
  • Larsen-like syndrome, lethal form: A very rare lethal syndrome characterized mainly by joint dislocations and breathing problems due to respiratory system abnormalities. The condition is a manifestation of abnormal collagen formation.
  • Larsen-like syndrome, lethal type: A very rare lethal syndrome characterized mainly by joint dislocations and breathing problems due to respiratory system abnormalities.
  • Le Marec-Bracq-Picaud syndrome: A very rare syndrome characterized mainly by a large head, short arms and clubfoot.
  • Lenz Majewski hyperostotic dwarfism: A rare genetic disorder characterized by dense, thick bones and symphalangism.
  • Lymphedema, microcephaly and chorioretinopathy syndrome: A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies.
  • Lymphoedema -- Microcephaly -- Chorioretinopathy Syndrome: A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies.
  • Lymphoedema -- Microcephaly -- chorioretinopathy: A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies.
  • Lymphoedema -- atrial septal defects -- facial changes: A rare inherited syndrome characterized by lymphoedema of the legs at birth, heart defects and facial anomalies.
  • MLCRD Syndrome: A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies.
  • MULIBREY Nanism: A genetic condition
  • Macrocephaly, facial abnormalities, disproportionate tall stature and mental retardation: A rare syndrome characterized by tall stature, mental retardation, large head and facial abnormalities.
  • Macrocephaly, mental retardation, short stature, spastic paraplegia and CNS malformations: A very rare syndrome characterized mainly by a large head, short stature and central nervous system problems.
  • Macrosomia with lethal microphthalmia: A very rare syndrome characterized mainly by very small eyes and a large body size at birth.
  • Malignant Teratocarcinosarcoma: A rare type of cancer that involves connective (bone, cartilage, fat) and epithelial (skin and lining of internal organs) tissue and tends to be of a large size. It often tends to occur in the nose, pharynx and sinus areas. Symptoms are determined by the size and location of the tumor.
  • Maroteaux-Stanescu-Cousin syndrome: A very rare lethal syndrome characterized mainly by abnormal bone development.
  • Marshall-Smith Syndrome: A rare genetic disorder characterized by accelerated growth and maturation, shallow orbits and broad middle bones of fingers.
  • Meckel Syndrome: A rare genetic disorder involving numerous abnormalities and characterized by death within the first few weeks.
  • Medrano-Roldan syndrome: A very rare syndrome characterized mainly by mental retardation, reduced muscle tone and increased skin pigmentation.
  • Megarbane-Jalkh Syndrome: A rare condition reported in two related infants and involving a range of abnormalities such as developmental delay, unusual facial features, wrinkled skin, liver failure and fragile bones. One of the infants died before the age of 2 years due to liver failure.
  • Melnick-Needles syndrome: A rare genetic bone disorder characterized by skeletal abnormalities and characteristic facial abnormalities.
  • 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 mixed retardation -- deafness -- clubbed digits: A rare disorder characterized mainly by mental retardation, deafness and clubbed fingers.
  • Mental mixed retardation deafnes clubbed digits: A rare disorder characterized mainly by mental retardation, deafness and clubbed fingers.
  • Mental retardation -- coloboma -- slimness: A very rare syndrome characterized mainly by mental retardation, retinal coloboma and a slim build.
  • 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 -- macrocephaly -- coarse facies -- hypotonia: A very rare syndrome characterized mainly by mental retardation, large head, coarse face and reduced muscle tone.
  • Mental retardation -- short stature -- heart and skeletal anomalies: A very rare syndrome characterized mainly by mental retardation, short stature and heart and skeletal anomalies.
  • Mental retardation athetosis microphthalmia: A very rare syndrome characterized mainly by the association of mental retardation, small eyes and a movement disorder.
  • Mental retardation unusual facies ampola type: A rare genetic disease characterized primarily by mental retardation, facial anomalies, short stature, seizures and finger and toe abnormalities.
  • Mental retardation, Buenos Aires type: A very rare syndrome characterized mainly by mental retardation, physical retardation, unusual facial appearance and heart and kidney defects.
  • Mental retardation, Wolff type: A very rare syndrome characterized mainly by severe mental retardation and facial anomalies. The parents came from the same bloodline.
  • Mental retardation, X-linked, Armfield type: A rare disorder characterized by mental retardation, seizures, short stature, small hands and small feet. The disorder is X-linked and hence only males exhibit the symptoms. The genetic defect occurs on chromosome Xq28.
  • Mental retardation, X-linked, Brooks type: A rare syndrome characterized by mental retardation, unusual facial appearance and retarded growth.
  • Mental retardation, X-linked, Stoll type: A rare disorder characterized by mental retardation, short stature and unusual facial appearance. 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, Wittwer type: A rare disorder characterized by severe mental retardation, retarded growth, seizures and vision and hearing 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, 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.
  • Mephenytoin -- Teratogenic Agent: There is evidence to indicate that exposure to Mephenytoin 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.
  • Metaphyseal chondrodysplasia, recessive type: A recessively inherited skeletal disorder characterized by abnormal development of the bone metaphyses which results in short stature from birth.
  • Metatrophic dysplasia: A very rare form of dwarfism involving short limbs and a long trunk. Less than 100 cases of the condition have been reported.
  • Methimazole -- Teratogenic Agent: There is evidence to indicate that exposure to Methimazole 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.
  • Mickleson syndrome: A very rare syndrome characterized mainly by mental retardation and facial and skull anomalies.
  • Microcephalic osteodysplastic dysplasia, Saul-Wilson type: A rare skeletal disorder characterized by various abnormalities including short stature, short digits, cataracts and small head.
  • Microcephalic osteodysplastic primordial dwarfism types 1 and 3: Microcephalic osteodysplastic primordial dwarfism types 1 and 3 were originally regarded as separate conditions but it was recently concluded that they were different expressions of the same condition. The main differences between the two forms is a difference in the radiological bone anomalies. The condition is characterized mainly by bone abnormalities, short stature and a small head.
  • Microcephaly -- cervical spine fusion anomalies: A very rare syndrome characterized mainly by a small head and fused neck vertebrae.
  • Microcephaly -- hypergonadotropic hypogonadism -- short stature: A very rare syndrome characterized mainly by a small head, short stature and hypogonadism.
  • Microcephaly -- lymphoedema -- Chorioretinopathy Dysplasia Syndrome: A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies.
  • Microcephaly -- lymphoedema -- chorioretinopathy: A very rare syndrome characterized mainly by a small head, lymphedema and eye anomalies.
  • Microcephaly -- microphthalmos -- blindness: A very rare syndrome characterized mainly by a small head, small eyes and blindness.
  • Microcephaly immunodeficiency lymphoreticuloma: A very rare syndrome characterized mainly by a small head, reduced immunity and increased risk of cancer. There are a wide range of other abnormalities and symptoms that can occur.
  • Microcephaly, hiatal hernia and nephrotic syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease.
  • Mild acne-like forehead symptoms: reddish raised elevated lesions on the forehaed
  • Mild pimples on forehead: acne is a disorder of the pilosebaceous unit. The inflammatory process varies from a papule, pustule to a nodule
  • Miller-Dieker syndrome: A rare genetic disorder characterized by a smooth brain surface. The condition occurs because of deletion of genetic material from the short arm of chromosome 17 ath a particular location (17p13.3).
  • Mohr syndrome: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger abnormalities.
  • Monosomy 1p36: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as heart problems, mental retardation, developmental delay, facial dysmorphism and short stature. The range and severity of symptoms is variable with some cases being relatively mild.
  • Monosomy 8q21 q22: A very rare chromosomal disorder where a portion of chromosome 8q is missing resulting in various abnormalities.
  • Morse-Rawnsley-Sargent syndrome: A very rare syndrome characterized mainly by abnormal brain development and reduced fetal movement.
  • Mouth symptoms: Symptoms of the mouth or oral area.
  • Mucopolysaccharidoses: A lysosomal storage disorder that is caused by a deficiency of the ability to metabolise glycosaminoglycans
  • Mucopolysaccharidosis II: Disorder of mucopolysaccharide metabolism in juveniles.
  • Mulibrey Nanism syndrome: A very rare inherited malformation characterized by very small stature (dwarfism), pericardial constriction and yellow dots in fundus of the eye.
  • Multicentric osteolysis -- nodulosis -- arthropathy: A rare syndrome characterized by joint disease, loss of bone mineral density and nodulosis.
  • NOMID syndrome: A rare autoinflammatory disease characterized by fever, rash, arthritic changes, eye problems and chronic meningitis.
  • Naguib syndrome: A rare syndrome characterized mainly by wide-set eyes, hypospadias and extra fingers.
  • Naproxen -- Teratogenic Agent: There is evidence to indicate that exposure to Naproxen 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.
  • Narrow forehead: Narrow forehead refers to a forehead that is unusually thin or slender.
  • Nasopalpebral lipoma -- coloboma syndrome: A very rare syndrome characterized mainly by a hole in the eyelids, telecanthus and fat deposits (lipomas) on the nose and eyelids.
  • Neonatal Progeroid Syndrome: A condition affecting the neonate which causes a more elderly appearance
  • Nephrosis neuronal dysmigration Syndrome: A rare genetic disorder primarily involving physical and developmental abnormalities as well as kidney disease. The type and severity of symptoms that can occur is variable.
  • Neu-Laxova Syndrome: A rare fatal genetic disorder characterized by microcephaly and multiple congenital abnormalities. Death occurs during the fetal or newborn stage.
  • Neurofaciodigitorenal syndrome: A very rare syndrome characterized by brain problems, mental retardations, kidney and limb defects as well as a range of other physical abnormalities.
  • Nijmegen Breakage Syndrome: A very rare syndrome characterized mainly by a small head, reduced immunity and increased risk of cancer. There are a wide range of other abnormalities and symptoms that can occur.
  • Nodulosis-arthropathy-osteolysis syndrome: A rare syndrome characterized by joint disease, loss of bone mineral density and nodulosis.
  • OFD syndrome type 8: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger abnormalities.
  • OFD syndrome type Figuera: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps, finger abnormalities and absence of all or part of the fibula.
  • OFD syndrome type IX: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger and retinal abnormalities.
  • OSMED, Homozygous: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
  • Occupational Cancer -- Nasal Cavity and Sinus cancer: Occupational exposure to wood dust can increase the risk of developing nasal cavity and sinus cancer.
  • Oligodontia, microcephaly, short stature and characteristic facies: A rare syndrome characterized mainly by missing teeth, small head, short stature and an unusual facial appearance.
  • Opitz G Syndrome: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: one is inherited in a X-linked manner and the other is inherited in an autosomal dominant manner. Females with the X-linked form of the condition tend to have few symptoms and often only have wide set eyes.
  • Opitz G/BBB Syndrome: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: one is inherited in a X-linked manner and the other is inherited in an autosomal dominant manner. Females with the X-linked form of the condition tend to have few symptoms and often only have wide set eyes.
  • Opitz G/BBB Syndrome, Type II: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: Type I inherited in a X-linked manner and type II is inherited in an autosomal dominant manner.
  • Opitz G/BBB Syndrome, X-linked: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: type I is inherited in a X-linked manner and type II is inherited in an autosomal dominant manner. Females with type I tend to have few if any symptoms - often the only symptom is wide-set eyes.
  • Opitz G/BBB Syndrome, type I: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: type I is inherited in a X-linked manner and type II is inherited in an autosomal dominant manner.
  • Opitz G/BBB syndrome, Autosomal dominant: A rare genetic disorder characterized by defects along the midline of the body. The type and severity of symptoms can vary considerably. There are two subtypes of the disorder: type I is inherited in a X-linked manner and type II is inherited in an autosomal dominant manner.
  • Opitz syndrome , X-linked: A congenital disorder characterized by distinctive facial features, genital abnormalities, esophageal defect and difficulty swallowing. Males are more severely affected than females.
  • Opitz-Reynolds-Fitzgerald syndrome: A very rare syndrome characterized mainly by extra little fingers, deafness and bone abnormalities of the face.
  • Oral facial digital syndrome: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger abnormalities.
  • Oral facial digital syndrome, type IV: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps, finger abnormalities, brain defects and short stature.
  • Orofaciodigital syndrome Thurston type: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger abnormalities.
  • Orofaciodigital syndrome type 10: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps, finger abnormalities and absence of all or part of the fibula.
  • Orofaciodigital syndrome, type 3: A rare genetic disorder characterized by oral frenula, oral clefts, underdeveloped nose flaps and finger, teeth and eye abnormalities.
  • Osteoglophonic dwarfism: A form of dwarfism characterized by premature fusion of skull bones, short limbs and digits, facial abnormalities and bone development anomalies.
  • Osteopathia striata, cranial sclerosis: A rare disorder characterized by striations along most long bones as well as increased bone density in the skull which is associated with various craniofacial defects.
  • Osteopetrosis lethal: A severe, lethal form of the brittle bone condition called osteopetrosis.
  • Osteopetrosis, intermediate form: A recessively inherited bone disease characterized bybrittle bones with increased density. The intermediate form is less severe than the infantile form but more severe than the adult form.
  • Osteoporosis -- macrocephaly -- blindness -- joint hyperlaxity: A very rare syndrome characterized mainly by mental retardation, osteoporosis, blindness and a large head.
  • Osteoporosis -- macrocephaly -- mental retardation -- blindness: A very rare syndrome characterized mainly by mental retardation, osteoporosis, blindness and a large head.
  • Osteosclerosis, abnormalities of nervous system and meninges: A very rare syndrome characterized mainly by increased bone density and nervous system abnormalities.
  • Oto-Palatal-digital syndrome: A very rare syndrome characterized a variety of abnormalities including skeletal anomalies, distinctive face and cleft palate. There are two types of the disorder (type 1 and 2) with type 2 being more severe.
  • Oto-Palato-Digital Syndrome:
  • Oto-Palato-digital syndrome type 1: A rare genetic disorder characterized by deafness, cleft palate, broad fingers and toes and short nails.
  • Oto-facio-osseous-gonadal syndrome: A rare syndrome characterized by ear, facial, bone and gonadal abnormalities.
  • Oto-palato-digital syndrome, type 2: A rare genetic disorder characterized by head, face, mouth and bone abnormalities.
  • Oto-spondylo-megaepiphyseal dysplasia, autosomal recessive: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
  • Oto-spondylo-megaepiphyseal dysplasia, homozygous: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
  • Otopalatodigital Syndrome Type I and II: A rare genetic disorder characterized by ear, palate, skull, face, finger, toe and other skeletal abnormalities.
  • Otospondylomegaepiphyseal dysplasia: A rare genetic disorder where abnormal bone growth causes hearing loss, skeletal abnormalities and characteristic facial features.
  • Paget's disease of bone: A chronic, slowly progressing bone disorder where the bone is destroyed rapidly and replaced by abnormal bone which is dense and fragile.
  • Paget's disease, type 1: A chronic, slowly progressing bone disorder where the bone is destroyed rapidly and replaced by abnormal bone which is dense and fragile. Type 1 is caused by a mutation on chromosome 6p21.3.
  • Paget's disease, type 4: A chronic, slowly progressing bone disorder where the bone is destroyed rapidly and replaced by abnormal bone which is dense and fragile. Type 1 is caused by a mutation on chromosome 5q31.
  • Paranasal sinus cancer, adult: Cancer that develops in the paranasal sinus which are spaces behind the cheeks and nose.
  • Parkinsonism, early onset with mental retardation: An early onset form of Parkinson's disease as well as mental retardation.
  • Parkinsonism, early-onset -- mental retardation: An early onset form of Parkinson's disease as well as mental retardation.
  • Partial 7p Monosomy: A rare chromosomal disorder where part of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size and location of the deleted portion.
  • Pectus excavatum macrocephaly dysplastic nails: A rare syndrome characterized mainly by a sunken chest, large head and abnormal nails.
  • Peroxisomal bifunctional enzyme deficiency: A rare disorder involving abnormal steroid metabolism due to an enzyme 17-beta-hydroxysteroid dehydrogenase 4) deficiency. The symptoms which make the condition appear very similar to another condition called neonatal adrenoleukodystrophy.
  • Petty-Laxova-Wiedemann syndrome: A very rare syndrome characterized mainly by premature aging involving the face, skin and hair as well as other anomalies.
  • Phenytoin -- Teratogenic Agent: There is evidence to indicate that exposure to Phenytoin 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.
  • Phillips-Griffiths syndrome: A rare syndrome characterized mainly by an eye defect called a coloboma and variable skeletal abnormalities.
  • Pimples on forehead: acne is a disorder of the pilosebaceous unit. The inflammatory process varies from a papule, pustule to a nodule
  • Premature chromosome condensation with microcephaly and mental retardation: A genetic disorder characterized mainly by a small head and mental retardation.
  • Progeroid syndrome, neonatal: A rare congenital condition characterized by poor growth, aged facial appearance, and mental retardation. Death occurs usually by 6 years of age.
  • Prominent forehead: An enlarged or prominent forehead (brow) of the head.
  • Protruding forehead: Protruding forehead is a forehead that sticks out more than average.
  • Pterygia -- Mental retardation -- Distinctive Craniofacial Features: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.
  • Pterygium colli -- mental retardation -- digital anomalies: A very rare syndrome characterized mainly by mental retardation, webbed neck and finger abnormalities.
  • Pyruvate kinase deficiency, liver type: An inherited deficiency of pyruvate kinase which causes varying degrees of hemolytic anemia.
  • Pyruvate kinase deficiency, muscle type: An inherited deficiency of pyruvate kinase which causes varying degrees of hemolytic anemia.
  • Quattrin mcpherson syndrome: A rare syndrome characterized mainly by a large mouth, developmental delay and an unusual facial appearance.
  • Ramos-Arroyo Syndrome: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
  • Ramos-ArroyoClark syndrome: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
  • Recurring acne-like forehead symptoms: reddish raised elevated lesions on the forehaed
  • Recurring pimples on forehead: acne is a disorder of the pilosebaceous unit. The inflammatory process varies from a papule, pustule to a nodule
  • Retinis pigmentosa -- deafness -- hypogenitalism: A very rare syndrome characterized mainly by progressive retinal damage, deafness and genital anomalies.
  • Retinitis pigmentosa -- mental retardation -- deafness: A very rare syndrome characterized mainly by progressive retinal damage, mental retardation and deafness.
  • Retinoids embryopathy: Fetal exposure to retinoids has the potential to cause mental and physical birth defects, particularly craniofacial, heart and ear malformations. It is advised that women planning a pregnancy should avoid taking retinoids for two years before the pregnancy.
  • Rieger anomaly -- partial lipodystrophy: A very rare disorder characterized by short stature, low birth weight and loss of skin fat. SHORT is an acronym for short stature, hyperextensible joints and/or hernia, ocular depression, Reiger anomaly and teething delay. Additional symptoms are also variably present.
  • Robinow Syndrome: An extremely rare genetic disorder characterized by dwarfism and facial abnormalities
  • Robinow syndrome, autosomal recessive: A rare genetic disorder characterized by a flat face, short forearms, vertebral anomalies and hypoplastic genitalia.
  • Robinow syndrome, recessive form: A rare genetic disorder characterized by a flat face, short forearms, vertebral anomalies and underdeveloped genitals.
  • Robinow-like syndrome: A very rare syndrome characterized mainly by growth problems before and after birth as well as genital and head anomalies.
  • Rollet syndrome: A rare disorder involving damage to a part of the eye orbit resulting in eye problems and skin sensation abnormalities involving the forehead, temples and top of the head.
  • Rubinstein-Taybi Syndrome: A rare congenital disorder characterized by very small stature, broad thumbs and toes, slanted palpebral fissures and hypoplastic maxilla.
  • Rubinstein-Taybi like syndrome: A condition characterized by numerous congenital abnormalities including small head, unusual facial features, short stature, broad thumb and big toe and mental retardation.
  • Rudiger syndrome: A rare syndrome characterized by various abnormalities of the feet, hands, face and urogenital system as well as severely retarded growth. Death occurred during early infancy in the recorded cases.
  • Saethre-Chotzen Syndrome: A rare genetic disorder characterized by premature joining of certain skull bones during development which has an impact on the shape of the head and face. Features include brachycephaly, ear deformities as well as craniofacial, finger and bone abnormalities.
  • Saito-Kuba-Tsuruta syndrome: A very rare syndrome characterized by kidney abnormalities and an abnormal calf bone or forearm bone (ulna). Only a few cases of the syndrome have been reported.
  • Say-Barber-Miller syndrome: A very rare syndrome characterized mainly by immune system problems and a small head.
  • Say-Carpenter syndrome: A very rare syndrome characterized mainly by wide set eyes, abnormally placed urethral opening in males and abnormal bone development.
  • Say-Meyer syndrome: A very rare syndrome characterized mainly by short stature, developmental delay and trigonocephaly (premature fusion of skull bones giving the forehead a triangular shape).
  • Schaefer-Stein-Oshman syndrome: A rare disorder where excessive growth and abnormal hardening affects the head and facial bones.
  • Schinzel Giedion Syndrome: A rare genetic disorder characterized by many skeletal and genital anomalies, unusual face, mental retardation and kidney malformations.
  • Schwartz-Lelek syndrome: A syndrome characterized by various skeletal abnormalities.
  • Severe acne-like forehead symptoms: reddish raised elevated lesions on the forehaed
  • Severe pimples on forehead: acne is a disorder of the pilosebaceous unit. The inflammatory process varies from a papule, pustule to a nodule
  • Short stature -- craniofacial anomalies -- genital hypoplasia: A very rare syndrome characterized mainly by short stature, underdeveloped genitals and various skull and facial anomalies.

Conditions listing medical symptoms: Forehead symptoms:

The following list of conditions have 'Forehead symptoms' or similar listed as a symptom in our database. This computer-generated list may be inaccurate or incomplete. Always seek prompt professional medical advice about the cause of any symptom.

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