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Symptoms » Facial anomalies » Glossary
 

Glossary for Facial anomalies

Medical terms related to Facial anomalies or mentioned in this section include:

  • ATR-X syndrome: A rare X-linked disorder that affects males and is characterized by mental retardation and alpha thalassemia.
  • Absent abdominal musculature with microphthalmia and joint laxity: A rare disorder characterized mainly by small eyes, loose joints, a lack of abdominal muscles and facial anomalies.
  • Alpha-Mannosidosis: A rare condition which is characterized by a lysosomal storage defect.
  • Arthrogryposis multiplex congenita -- pulmonary hypoplasia: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
  • Asymmetric short stature syndrome: A rare disorder characterized mainly by short stature, unequal leg lengths and facial anomalies.
  • Blomstrand syndrome: A rare lethal congenital condition characterized by abnormal bone development.
  • Bone symptoms: Symptoms affecting the body's bones
  • Brachydactyly -- small stature -- face anomalies: A rare genetic disorder characterized by short stature, short fingers and toes and facial anomalies.
  • Brosnan Syndrome: A very rare syndrome described in two sisters. The condition involved a variety of abnormalities including short stature and kidney and reproductive anomalies.
  • Burn-McKeown syndrome: A rare genetic disorder characterized by choanal atresia (narrowing or blockage of nasal airway), deafness, heart defects and eye, ear and facial anomalies.
  • Burnett-Schwartz-Berberian syndrome: A rare syndrome characterized by an inflammatory facial skin disorder and various congenital anomalies.
  • CDG syndrome (generic term): Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. The main symptom in all the disorders is psychomotor retardation but other variable symptoms also occur depending on the subtype of the disorder.
  • CDG syndrome type 3: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 3 has variable symptoms.
  • Camptodactyly syndrome, Guadalajara type 1: A rare syndrome characterized mainly by retarded fetal growth and permanently flexed fingers as well as other abnormalities such as short toes, short neck and a small head.
  • Cardiomelic syndrome Stratton Koehler type: A rare syndrome characterized mainly by heart and skeletal abnormalities.
  • Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome: A rare disorder characterized by abnormal brain development, neurological problems, scaly skin and thickened skin on the palms and soles.
  • Cerebro-facio-thoracic dysplasia: A very rare syndrome characterized by mental retardation, spinal and rib defects and facial anomalies.
  • Cerebrorenodigital syndrome: A rare group of syndromes characterized mainly by brain, kidney, finger and toe abnormalities.
  • Chitayat-Moore-Del Bigio syndrome: A rare birth disorder characterized mainly by brain abnormalities, large head and facial anomalies.
  • Chlorpropamide -- Teratogenic Agent: There is evidence to indicate that exposure to Chlorpropamide (an antidiabetic drug) 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.
  • Choanal atresia -- deafness -- cardiac defects -- dysmorphia: A rare birth disorder characterized by choanal atresia (narrowing or blockage of nasal airway), deafness, heart defects and facial anomalies.
  • Choanal atresia -- deafness -- cardiac defects -- dysmorphism: A rare genetic disorder characterized by choanal atresia (narrowing or blockage of nasal airway), deafness, heart defects and eye, ear and facial anomalies.
  • Chondrodysplasia punctata, non rhizomelic type: A group of inherited disorder affecting the skeleton, skin, eyes and mental function. The disorders are characterized mainly by stippled epiphyses (abnormal calcification near joints) during infancy. The non-rhizomelic forms tend to be milder, with minimal or no upper limb shortening. The Joints in the ends of the arms and legs tend to be more affected. Some of the specific disorders in this group are Conradi-Hunermann disease, Happle's chondrodysplasia and brachytelephalagnic chondrodysplasia punctata. The range of symptoms and severity may vary between disorders.
  • Chondrodysplasia, type Nance-Sweeney: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
  • 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 22, microdeletion 22q11: A rare chromosomal disorder where a portion of the long arm of chromosome 22 is deleted.
  • Chromosome 6, monosomy 6q1: A rare chromosomal disorder involving the deletion of a portion of the long arm of chromosome 6.
  • Chromosome 7 deletion p21.1-p22.1: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
  • Chromosome 8 deletion: A rare chromosomal disorder where there is only one copy of the genetic material of part 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 missing.
  • Cleft lip: A condition which is characterized by a congenital cleft of the upper lip
  • Cleft palate: This when there is a congenital fissure of the median line of the palate.
  • Cohen Syndrome: A rare genetic disorder characterized by reduced muscle tone, obesity and prominent front teeth.
  • Collins-Sakati syndrome: A very rare syndrome characterized mainly by a short, broad toe and a large head.
  • Cranio-facio-digito-genital syndrome: A rare disorder characterized by skull, facial, digital and genital anomalies.
  • Cranioacrofacial syndrome: A very rare syndrome characterized mainly by heart, hand, facial and skull anomalies.
  • Craniofacial and skeletal defects: A very rare syndrome characterized mainly by skeletal defects and facial and skull anomalies.
  • Craniofacial conodysplasia: A rare disorder characterized by neurological symptoms and abnormally-shaped bones in the hands and feet. The neurological symptoms are caused by a buildup of fluid inside the skull as well as compression of the spinal cord at the neck-skull junction.
  • 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.
  • Craniomicromelic syndrome: A very rare syndrome characterized by skull and facial abnormalities, short arms and legs and retarded fetal growth.
  • Cyprus facial neuromusculoskeletal syndrome: A rare inherited syndrome characterized by variable neurological, muscular and skeletal abnormalities as well as a characteristic face.
  • Davis-Lafer syndrome: A very rare syndrome characterized mainly by mental retardation and unusual facial features.
  • Del (4) (pter-p16) and dup (10) (pter-p14): A very rare chromosomal disorder where a portion of the short arm (pter-p16) of the genetic material on chromosome four is missing and a portion on chromosome 10 is duplicated (pter-p14). The type and severity of symptoms can vary depending on the exact size and location of the deleted or duplicated genetic material.
  • Deletions of chromosome 8: A rare chromosomal disorder where there is only one copy of the genetic material of part 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 missing.
  • Developmental problems: Physical or mental development difficulty.
  • Diprosopia: A very rare syndrome characterized by various facial anomalies, anencephaly and cleft lip and palate.
  • 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-p24.3) and del (7) (pter-p22.1): 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 (5)(q11-q22): A rare chromosomal disorder involving duplication of a certain section (q11-q22) of the long arm of chromosome 5 which results in various abnormalities.
  • Duplication of leg mirror foot: A birth malformation characterized by the absence of the tibia and partial duplication of the foot. The partial duplication of the foot means that one foot can have as many as nine toes. Usually only one foot is affected.
  • Epidermal nevus -- vitamin D resistant rickets: A rare syndrome characterized mainly by the presence of birth marks on the skin, bone abnormalities and mental retardation.
  • Ergotamine -- Teratogenic Agent: There is evidence to indicate that exposure to Ergotamine 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.
  • Face symptoms: Symptoms affecting the face
  • Facial pain: Pain affecting the face
  • Faciooculoacousticorenal syndrome: A very rare syndrome characterized by facial, eye, ear and kidney abnormalities.
  • Fetal minoxidil syndrome: Fetal exposure to minoxidil which can pass from the mother to the fetus through the placenta. Minoxidil is a blood vessel dilator mainly used to treat high blood pressure but has other uses as well. Increased body hair is the main consistent effect of exposure to the drug. The amount of hair usually returns to normal within the first year.
  • Fibular dimelia -- diplopodia: A birth malformation characterized by the absence of the tibia and partial duplication of the foot. The partial duplication of the foot means that one foot can have as many as nine toes. Usually only one foot is affected.
  • Free sialic Acid storage disease: A rare inherited biochemical disorder characterized by the accumulation of sialic acid in the tissues and excretion of sialic acid in the urine. There are mild and severe forms of the condition - the severe form result in death before birth or within a few years of birth.
  • Glutaric Acidemia Type II: A condition which is characterized by an inability of the body to use fats and proteins of the body for energy
  • Growth symptoms: Symptoms related to poor or excessive growth.
  • Head symptoms: Symptoms affecting the head or brain
  • Hypopigmented lesions in children: Hypopigmented lesions in children refers are sores or ulcers that are colorless or have lost color in a child.
  • Infant symptoms: Symptoms affecting babies and infants.
  • Leg Duplication -- Mirror Foot: A birth malformation characterized by the absence of the tibia and partial duplication of the foot. The partial duplication of the foot means that one foot can have as many as nine toes. Usually only one foot is affected.
  • Lethal arthrogryposis with anterior horn cell disease (LAAHD): A lethal disorder characterized by arthrogryposis and loss of anterior horn motor neurons which results in a lack of fetal movement.
  • Lymphangiectasies and lymphedema Hennekam type: A rare disorder characterized by buildup of lymphatic fluid in the limbs, face and genitals, seizures and mental and growth retardation.
  • Lymphoedema -- lymphangiectasia -- mental retardation: A rare disorder characterized by buildup of lymphatic fluid in the limbs, face and genitals, seizures and mental and growth retardation.
  • Mental retardation -- short stature -- cleft palate -- unusual facies: A very rare syndrome characterized mainly by short stature, mental retardation, cleft palate and facial anomalies.
  • Mental retardation, Buenos Aires type: A very rare syndrome characterized mainly by mental retardation, physical retardation, unusual facial appearance and heart and kidney defects.
  • Myhre-Ruvalcaba-Graham syndrome: A rare disorder characterized by mental retardation, retarded growth before and after birth, early-onset deafness and facial anomalies as well as other problems.
  • Nguyen syndrome: A rare disorder characterized by low blood cholesterol, mental retardation and various congenital anomalies.
  • OSMED, Homozygous: A very rare condition characterized mainly by bone malformations, hearing loss and facial anomalies.@
  • Oromandibular and Limb Hypogenesis Syndrome, Type V: Oromandibular-limb hypogenesis syndrome is characterized by a spectrum of disorders which can be categorized into a number of subtypes. Type V involves an underdeveloped tongue as well as various other anomalies - syndromes such as Hanhart syndrome, Pierre Robin syndrome, Moebius Syndrome and Amniotic Band syndrome fall into this category.
  • 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.@
  • Otospondylomegaepiphyseal dysplasia: A rare genetic disorder where abnormal bone growth causes hearing loss, skeletal abnormalities and characteristic facial features.
  • Pena Shokeir syndrome, type 1: A rare congenital syndrome involving degeneration of the brain and spinal cord and characterized by facial, head, skeletal and muscular abnormalities. Reduced fetal activity causes many of the problems.
  • Pointer syndrome: A rare syndrome characterized mainly by skeletal abnormalities, permanently flexed fingers, facial anomalies and feeding problems.
  • Polysyndactyly orofacial anomalies: A very rare syndrome characterized by the association of webbed digits and oral and facial anomalies. Various other abnormalities may also be present.
  • Pseudopapilledema -- blepharophimosis -- hand anomalies: A very rare syndrome characterized mainly by malformations involving the hands, feet ears and face as well as deafness.
  • Reynolds-Neri-Hermann syndrome: A very rare syndrome characterized mainly by heart defects, large head, developmental problems and facial and skin anomalies.
  • Robinow Syndrome: An extremely rare genetic disorder characterized by dwarfism and facial abnormalities
  • Saddle nose: Facial deformity from collapse of the nasal bridge
  • Skeletal symptoms: Symptoms affecting the skeletal system such as the bones.
  • Toriello-Higgins-Miller syndrome: A rare syndrome involving abnormal calcification of growing ends of bones as well as eye and facial anomalies.

Conditions listing medical symptoms: Facial anomalies:

The following list of conditions have 'Facial anomalies' 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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