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Glossary for Unusual facial appearance

Medical terms related to Unusual facial appearance or mentioned in this section include:

  • 3-alpha-hydroxyisobutyryl-CoA hydrolase deficiency: A metabolic disorder involving an enzyme deficiency which causes symptoms such as degeneration of the nervous system. The other features of the disorder are somewhat variable.
  • 46,XY chromosome 7 deletion p14-p14: A chromosomal disorder where a small portion of chromosome 7 is deleted which results in a range of abnormalities.
  • Absent patellae -- scrotal hypoplasia -- renal anomalies -- facial dysmorphism -- mental retardation: A rare syndrome characterized by absent kneecaps, underdeveloped scrotum, kidney anomalies, unusual facial appearance and mental retardation.
  • 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.
  • Al Awadi syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis.
  • Al Awadi-Raas-Rothschild syndrome: A rare syndrome characterized primarily by severe malformations involving the limbs and pelvis. The exact type and severity of symptoms is variable. Most cases appear to occur in cases where the parents were related.
  • Alport syndrome -- mental retardation -- midface hypoplasia -- elliptocytosis: A rare syndrome characterized by the association of Alport syndrome, mental retardation, underdeveloped midface and a blood abnormality (elliptocytosis). Alport syndrome is an inherited condition involving progressive kidney damage and hearing loss.
  • Aminopterin and methotrexate -- Teratogenic Agent: There is strong evidence to indicate that the use of Aminopterin and methotrexate during pregnancy may cause 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.
  • Aspartylglucosaminidase deficiency: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
  • Aspartylglucosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
  • Aspartylglycosaminuria: A rare glycoprotein metabolism disorder caused by a deficiency of an enzyme called aspartylglucosaminidase. Patients tend to develop normally during the first few years of life and development continues slowly until adolescence when mental retardation becomes progressively worse.
  • Axenfeld-Rieger anomaly -- hydrocephaly -- skeletal abnormalities: A rare syndrome characterized mainly by skeletal abnormalities, excess fluid inside the skull and eye anomalies.
  • Baraitser-Winter syndrome: A rare syndrome characterized by a structural eye defect, droopy eyelids and mental retardation.
  • Barrow-Fitzsimmons Syndrome: A rare (only one reported case) inherited condition characterized by short limbs, an unusual facial appearance and congenital heart disease.
  • Behavioral symptoms: Symptoms of personal behavior.
  • Brain malformation -- congenital heart disease -- postaxial polydactyly: A very rare syndrome characterized mainly by a brain defect, congenital heart disease and extra fingers.
  • C-like syndrome: A rare disorder involving poor fetal growth, limb and facial defects and severe developmental delay.
  • CDG syndrome type 1A: A very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1A involves a phosphomannomutase enzyme defect and affects most body systems especially the nervous system and liver function.
  • CDG syndrome type I: A rare genetic disorder where the body is unable to synthesize glycoproteins which results in multisystem problems.
  • Carbohydrate deficiency glycoprotein syndrome type II: 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 2 is caused by a genetic defect which involves the gene for a particular enzyme (Golgi localized N-acetyl-glucosaminyltransferase II). Type 2 tends to have more severe psychomotor retardation than type 1 but there is no peripheral neuropathy or underdeveloped cerebellum.
  • Chromosome 1, Terminal deletion: A genetic disorder where a portion of the genetic material from the long arm of chromosome 1 is missing. The symptoms or severity may vary somewhat between patients.
  • Chromosome 1, pter-p36: A very rare chromosomal disorder where the end portion of the short arm of chromosome 1 is missing. The type and severity of symptoms is variable.
  • Chromosome 13q-mosaicism: A very rare chromosomal disorder where a copy of the long arm of chromosome 13 in some of the body's cells. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
  • Chromosome 15q13.3 microdeletion syndrome: A genetic disorder characterized by the deletion of a small portion of genetic material at the chromosomal location of 15q13.3. A rare syndrome characterized mainly by seizures, mental retardation, and slightly unusual facial features.
  • Chromosome 17, trisomy 17p11.2: A rare chromosomal disorder where a portion of the short arm of chromosome 17 is duplicated.
  • Chromosome 2, monosomy 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
  • 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.
  • 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 9, partial trisomy 9p: A very rare genetic disorder where a portion of the genetic material on the short arm (p) 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.
  • Congenital disorder of glycosylation type 1G: 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 IG is caused by a defect on chromosome 22q13.33 and involves the gene for a particular enzyme (dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase).
  • Congenital disorder of glycosylation type 1K: Congenital disorders of glycosylation is a group of very rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type Ik is caused by a defect on chromosome 16p13.3 and involves a defect in the gene for beta-1,4-mannosyltransferase. The disorder is generally fatal within a year or two of birth.
  • Congenital disorder of glycosylation type 1L: 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 Il is caused by a defect on chromosome 11q23 and involves a defect in the ALG9 gene.
  • Congenital disorder of glycosylation type 1X: Congenital disorder of glycosylation is a rare inherited metabolic disorder where defective carbohydrate compounds are attached to glycoproteins and thus impairing glycoprotein function. Type 1X also involves thrombocytopenia with normal levels of phosphomannomutase and phosphomannose isomerase. This form of the condition is severe and results in death during infancy.
  • Congenital disorder of glycosylation type 2C: 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 2c is caused by a defect on chromosome 11p11.2 and involves a defect in the gene for GDP-fucose transporter.
  • Congenital disorder of glycosylation type 2E: 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 2e is caused by a defect on chromosome 16p and involves a defect in the gene for oligomeric complex-7.
  • Congenital hypoparathyroidism, seizures, growth and mental retardation and unusual facies: A rare syndrome characterized mainly by growth and mental retardation, seizures, unusual facial appearance and congenital hypoparathyroidism.
  • Cousin Walbraum Cegarra syndrome: A rare syndrome characterized mainly by short stature at birth, unusual facial appearance and skeletal abnormalities involving the shoulder blades and hips.
  • Cranio-facio-digito-genital syndrome: A rare disorder characterized by skull, facial, digital and genital anomalies.
  • Craniostenosis with congenital heart disease mental retardation: A very rare disorder characterized mainly by premature fusion of the sagittal skull bones, mental retardation and heart disease that is present at birth. The disorder generally involves other variable features.
  • Craniosynostosis -- brachysyndactyly of hands and absence of toes: A rare condition characterized mainly by premature fusion of skull bones, limb defects and a cleft lip or palate.
  • Craniosynostosis -- intracranial calcifications: A rare syndrome characterized by the premature fusion of skull bones as well as abnormal calcifications inside the skull. The features of the disorder may vary.
  • Cutis Laxa, Autosomal Recessive, Type IIB: A recessively inherited condition characterized mainly by loose wrinkly skin and a prematurely aged appearance. Many of the reported cases involved parents who were related.
  • Del (2) (q36-qter): 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.
  • Del (4) (pter-p16.2) and dup (2) (q37.1-qter): A rare syndrome characterized by the main features of Wolf syndrome which include profound mental retaradation and oral clefting. Patients tend to die soon after birth.
  • Del(1) (pter-p34): A very rare chromosomal disorder where the end portion of the short arm of chromosome one is missing. The type and severity of symptoms is variable.
  • Del(1) (pter-p35): A very rare chromosomal disorder where the end portion of the short arm of chromosome one is missing. The type and severity of symptoms is variable.
  • Del(1) (q25.2-q31.2): A very rare chromosomal disorder where a portion of the long arm (q25.2-q31.2) of chromosome one is missing.
  • Del(1) (q32-q41): A very rare chromosomal disorder where a portion of the long arm (q32-q41) 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.
  • Del(1) (q43-qter) & dup (22) (pter-q13): A very rare chromosomal disorder where a portion of the long arm (q43-qter) & dup (22) (pter-q13) of chromosome one is missing. The type and severity of symptoms is variable.
  • Deletion 10pter: A very rare syndrome caused by a chromosomal defect (10p terminal deletion) and can result in a variety of malformations that are similar to DiGeorge syndrome and velocardiofacial syndrome.
  • Deletion 2q24: A genetic disorder characterized by the deletion of a portion of the long arm of chromosome 2.
  • 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.
  • 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.
  • Dentinogenesis imperfecta -- short stature -- hearing loss -- mental retardation: A rare syndrome characterized by teeth anomalies (dentinogenesis imperfecta), short stature, hearing loss and mental retardation.
  • Developmental delay -- epilepsy -- neonatal diabetes: A rare syndrome characterized mainly by developmental delay, epilepsy and early-onset diabetes.
  • Developmental problems: Physical or mental development difficulty.
  • Duplication 9p partial: A very rare genetic disorder where a portion of the genetic material on the short arm (p) 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.
  • Emery-Nelson syndrome: A rare condition characterized by a flat face and hand and foot abnormalities.
  • Escobar syndrome, type B: A rare genetic disorder characterized by a pursed mouth, creased tongue, eye anomalies and a curved spine.
  • Face symptoms: Symptoms affecting the face
  • Facial dysmorphism -- intellectual deficit -- short stature -- hearing loss: A very rare inherited disorder characterized by retarded growth, mental retardation, bone abnormalities and distinctive facial features.
  • Facial pain: Pain affecting the face
  • Facio-auriculo-radial dysplasia: A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm.
  • Facio-cardio-musculo-skeletal syndrome: A rare syndrome characterized by facial, heart, muscle and skeletal abnormalities.
  • Fischer Syndrome: A rare condition characterized by unusual facial appearance, thickened skin on palms and soles, physical and mental delay and various other anomalies.
  • Fryns-Aftimos syndrome: A rare syndrome characterized mainly by abnormal brain development, epilepsy, mental retardation and unusual facial appearance.
  • Fryns-Fabry-Remans syndrome: A rare syndrome characterized by the progressive fusion of the front of the vertebrae as well as the excessive growth of the whole body.
  • Gaucher disease -- perinatal lethal form: A rare syndrome characterized by the association of abnormally tight skin and Gaucher disease which is a lipid storage disease. This is the most severe form of Gaucher disease.
  • Glutaric aciduria 2: A metabolic disorder involving an enzyme deficiency - electron transfer flavoprotein ubiquinone oxydoreductase. The severity of symptoms depends on the level of deficiency. The infant onset form is the most severe and often results in death. Severe cases usually develop during childhood or infancy and usually involve metabolic acidosis and its associated symptoms. Milder cases may simply present with muscle weakness initially that develops in adulthood. Some cases may involve additional symptoms such as heart, liver and kidney problems, facial anomalies and genital abnormalities.
  • Goldberg syndrome: A rare lysosomal storage disorder characterized by an enzyme deficiency (neuraminidase and beta-galactosidase) which results in a build-up of glycoproteins in the urine. There are three main subtypes: infantile, juvenile and adult forms. The early infantile form is the most severe and often results in death during infancy.
  • Goldblatt-Wallis syndrome: A very rare syndrome characterized by mental retardation and an abnormally placed urethral opening in males.
  • Goossens-Devriendt syndrome: A very rare syndrome characterized mainly by a brain defect, congenital heart disease and extra fingers.
  • Gracile bone dysplasia: An inherited disorder characterized by brittle bones and thin, slender long bones and ribs as well as other abnormalities.
  • Growth deficiency brachydactyly unusual facies: A rare syndrome characterized mainly by short stature, short fingers and toes and facial anomalies.
  • Growth symptoms: Symptoms related to poor or excessive growth.
  • Guizar-Vasquez-Sanchez-Manzano syndrome: A rare syndrome characterized by loose joints, chest deformity and unusual facial appearance.
  • Halal syndrome: A very rare syndrome characterized mainly by a small head and a cleft palate.
  • Harrod Doman Keele syndrome: A very rare syndrome characterized mainly by skull, facial, genital, finger and toe abnormalities.
  • Head symptoms: Symptoms affecting the head or brain
  • 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-MacDonald syndrome: A rare syndrome characterized by multiple skeletal abnormalities, short stature, unusual facial features, hearing loss and a predisposition for developing meningiomas.
  • 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.
  • Hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency: A rare disorder involving an enzyme deficiency which results in increased methionine levels in the blood. The condition manifests as psychomotor delay and severe muscle disease.
  • Hypertrophy and Asymmetry of the Facial Muscles: A very rare condition characterized by the enlargement of the facial muscles on one side of the face only.
  • Hypothyroidism -- dermoid cyst -- cleft palate: A rare syndrome characterized by primary hypothyroidism, dermoid cyst, cleft palate and other abnormalities.
  • Hypotonia, Seizures and Precocious Puberty: A rare syndrome observed in three siblings and characterized mainly by seizures and reduced muscle tone. Early puberty was also observed in two of the children.
  • ICF syndrome: A very rare, recessively inherited syndrome characterized mainly by a weak immune system and facial anomalies.
  • IMAGe syndrome: A rare syndrome characterized by retarded fetal growth, abnormal bone development, underdeveloped adrenal glands and genital abnormalities.
  • Inborn amino acid metabolism disorder: A group of inherited disorders where the body is not able to metabolize amino acids consumed in the diet. Amino acids are a part of carbohydrates, fats and proteins and are metabolized in order to provide energy or to make other needed compounds. There are many steps involved in metabolism and the severity can be greatly variable depending on the exact nature of the disorder.
  • Infant symptoms: Symptoms affecting babies and infants.
  • 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.
  • Iridogoniodysgenesis and skeletal anomalies: A rare syndrome characterized by skeletal anomalies, congenital glaucoma and an unusual facial appearance.
  • Kennerknecht syndrome: A very rare syndrome characterized mainly by absent gonads, mental retardation, short stature, retarded bone age and heart abnormalities. The observed cases involved a family whose parents were related.
  • Larsen-like osseous dysplasia -- dwarfism: A very rare syndrome characterized mainly by bone abnormalities, joint dislocations, unusual facial appearance and dwarfism.
  • Lathosterolosis: A very rare disorder where an enzyme (sterol C5-desaturase) deficiency prevents the normal synthesis of cholesterol in the body. The deficiency causes various malformations, mental retardation and liver disease.
  • Lichtenstein syndrome: A very rare disorder characterized by the association of neutropenia, immunoglobulin deficiency, peculiar facies and bony anomalies.
  • Lissencephaly type 1, due to LIS 1 anomalies: A rare brain malformation where the surface of the brain is smoother than normal. Type 1 is caused by a defect on the LIS1 gene on chromosome 17p13.3. The severity of the symptoms are variable depending on the severity of the brain abnormality. Miller-Dieker syndrome is a subtype of this condition.
  • Lissencephaly type III -- metacarpal bone dysplasia: A rare syndrome characterized by an abnormally smooth brain as well as abnormal bone development in the hands.
  • Macrocephaly -- mental retardation -- facial dysmorphism: A rare syndrome characterized mainly by a large head, mental retardation and an unusual facial appearance.
  • Malocclusion -- short stature syndrome: A rare inherited disorder characterized by an open bite, short stature and a triangular face.
  • Masklike facies: Masklike facies refers to a condition in which there is a facial expression that is flat, mask-like, and lacks expression due to a disease, disorder, or condition.
  • Mental Retardation, Autosomal Dominant, 1: A form of mental retardation inherited mental retardation linked to a defect on chromosome 2q23.1.
  • Mental Retardation, Autosomal Dominant, 2: A form of mental retardation inherited mental retardation linked to a defect on chromosome 9p24.
  • Mental Retardation, Autosomal Dominant, 3: A form of mental retardation inherited mental retardation linked to a defect on chromosome 16q24.3.
  • Mental Retardation, Autosomal Dominant, 4: A form of mental retardation inherited mental retardation linked to a defect on chromosome 11q24.2.
  • Mental Retardation, Autosomal Dominant, 5: A form of mental retardation inherited mental retardation linked to a defect on chromosome 6p21.3.
  • Mental retardation -- short stature -- unusual facies: A very rare syndrome characterized mainly by mental retardation, short stature and an unusual facial appearance.
  • Mental retardation microcephaly unusual facies: A rare condition characterized by mental retardation, a small head and an unusual facial appearance.
  • Mental retardation syndrome, Belgian type: A rare form of mental retardation reported in a Belgian family.
  • Mental retardation, Smith-Fineman-Myers type: A rare inherited disorder characterized mainly by mental retardation and low facial muscle tone.
  • Mental retardation, X-linked -- cubitus valgus -- typical face: A rare disorder characterized by mental retardation, unusual facial appearance and a turned out elbow (cubitus valgus). 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 -- hypotonia -- facial dysmorphism -- aggressive behavior: A rare X-linked disorder characterized by mental retardation, reduced muscle tone, aggressive behavior 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 -- hypotonic face: A group of syndromes characterized mainly by mental retardation and reduced tone in the facial muscles. Various other abnormalities may be present.
  • Mental retardation, X-linked, Pai type: A rare X-linked disorder characterized by mental retardation and a slightly 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, Seemanova type: A rare X-linked disorder characterized by mental retardation, retarded growth and small genitals. 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, Siderius type: A rare inherited form of mental retardation involving a defect on chromosome Xp11.2.
  • Mental retardation, X-linked, syndromic 11: A rare form of mental retardation inherited in a X-linked manner. It is also associated with an unusual facial appearance and results from a defect on chromosome Xq26-q27. Female carriers tended to have some degree of facial dysmorphism but no mental retardation.
  • Mental retardation, X-linked, syndromic type 11: A rare form of mental retardation inherited in a X-linked manner. It is also associated with an unusual facial appearance and results from a defect on chromosome Xq26-q27. Female carriers tended to have some degree of facial dysmorphism but no mental retardation.
  • 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.
  • Methylmalonic acidemia -- homocystinuria: A rare inborn error of metabolism which results in impaired vitamin B12 metabolism. There are a number of forms of this condition with variable severity.
  • 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 micropenis convulsions: A syndrome which is characterized by the association of symptoms such as abnormal facial appearance, short stature and psychomotor retardation.
  • Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance: A rare syndrome characterized by the association of a small head, retarded growth, cataracts, hearing loss and an unusual facial appearance. It was reported in a brother and sister.
  • Microcephaly-Faciocardioskeletal syndrome: A rare syndrome characterized mainly by a small head and heart, facial and skeletal abnormalities. The specific abnormalities can vary somewhat e.g. heart abnormalities may include pulmonary artery atresia, ventricular septal defect, atrial septal defect, overriding aorta, tetralogy of Fallot, right ventricular hypertrophy or subpulmonary obstruction. Skeletal abnormalities tend to involve mainly the digits, forearms and lower legs.
  • Microlissencephaly -- micromelia: A rare syndrome characterized mainly by short arms, a brain defect called microlissencephaly, small head and early death.
  • Morava-Mehes syndrome: A rare syndrome characterized mainly by an underdeveloped bones in the forearm, calf and fourth and fifth fingers, short stature and unusual facial appearance.
  • Mucolipidoses: A group of inherited metabolic disorders involving the accumulation of carbohydrates (glycosaminoglycans) and lipids within the tissues of the body due to a deficiencies or abnormal action of various lysosomal enzymes. This abnormal accumulation of carbohydrates and lipids within cells causes them to be damaged which often results in symptoms such as mental retardation and skeletal deformities. Symptoms may become apparent at birth or during childhood or adolescence. Premature death can occur in severe cases. There is a vast array of symptoms that can occur depending on the specific disorder involved.
  • Mucopolysaccharidosis type I Hurler-Scheie syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (?-L-diuronidase) needed to break it down.
  • Multiple endocrine abnormalities -- adenylyl cyclase dysfunction: A rare syndrome characterized by an enzyme defect (adenylyl cyclase) and a number of endocrine abnormalities.
  • Multiple vertebral anomalies unusual facies: A rare condition characterized by the associated of a number of vertebral anomalies and an unusual facial appearance.
  • Osteopaenia -- myopia -- hearing loss -- intellectual deficit -- facial dysmorphism: A rare syndrome characterized mainly by osteopenia, myopia, hearing loss, mental retardation and an unusual facial appearance.
  • Osteopetrosis, mild autosomal recessive form: A rare disorder characterized by abnormally increased bone density as old bone is not resorbed and replaced with new bone. This form is relatively mild.
  • Panostotic fibrous dysplasia: A rare disorder characterized by an unusual facial appearance, fragile bones, high blood phosphatase levels that low blood phosphate levels.
  • Parkinson's Disease: Degenerative brain condition characterised by tremor.
  • Perinatal-lethal Gaucher disease: A disorder caused by a deficiency of an enzyme called glucocerebrosidase. The foetal form is one of several forms of Gaucher disease and is the rarest. The fetal form causes death before birth or soon after.
  • Peritonitis: Inflammation of the peritoneum.
  • Pfeiffer Syndrome Type II: 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 craniofacial and cardiovascular malformations with death often occurring early.
  • Phenylketonuria -- Teratogenic Agent: There is strong evidence to indicate that the development of Phenylketonuria during pregnancy may have a teratogenic effect on the fetus. A teratogen is a substance that can cause birth defects. The likelihood and severity of defects may be affected by the stage of pregnancy that the exposure occurred at.
  • Phocomelia ectrodactyly deafness sinus arrhythmia: A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm.
  • Phocomelia ectrodactyly ear malformation deafness sinus arrhythmia: A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm.
  • Poor growth: Poor body growth or delayed physical development.
  • Potocki-Lupski syndrome: A rare chromosomal disorder where a portion of the short arm of chromosome 17 is duplicated.
  • Pterygia -- mental retardation -- facial dysmorphism: A very rare syndrome characterized mainly by mental retardation, unusual facial features and joint webbing.
  • Radioulnar synostosis mental retardation hypotonia: A very rare syndrome involving mental retardation, reduced muscle tone and fusion of the forearm bones.
  • Riddle syndrome: A rare syndrome characterized by sensitivity to ionizing radiation, immunodeficiency, learning difficulties and unusual facial appearance.
  • 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.
  • Roifman syndrome: A rare syndrome characterized by abnormal bone growth, immune deficiency and an eye disorder.
  • Schofer beetz bohl syndrome: A rare syndrome characterized mainly by brain calcification, mental retardation, short stature, diabetes insipidus and unusual facial appearance.
  • Scholte syndrome: A very rare syndrome characterized mainly by premature balding, dislocated kneecap, hypogonadism and small hands and feet.
  • Scleroderma: A rare, progressive connective tissue disorder involving thickening and hardening of the skin and connective tissue. There are a number of forms of scleroderma with some forms being systemic (involving internal organs).
  • Serpentine fibula -- polycystic kidney syndrome: A very rare syndrome characterized mainly by unusual s-shaped calf bone (fibula) as well as the development of numerous cysts in the kidneys.
  • Short limbs -- abnormal face -- congenital heart disease: A very rare syndrome characterized by the association of short arms and legs, an abnormal facial appearance and congenital heart disease. Limb shortening tends to affects the arms more than the legs.
  • Short stature -- dysmorphic face -- pelvic scapula dysplasia: A very rare disorder characterized mainly by unusual facial appearance, short stature and abnormality development of the pelvis and shoulder blade.
  • Short stature deafness neutrophil dysfunction: A very rare syndrome characterized by short stature, deafness and frequent infections due to abnormal neutrophils.
  • Short stature deafness neutrophil dysfunction dysmorphism: A rare condition characterized mainly by the association of short stature, deafnes, neutrophil dysfunction and an unusual facial appearance.
  • Short stature webbed neck heart disease: A rare syndrome characterized mainly by heart disease, short stature and a webbed neck.
  • Short stature, Brussels type: A very rare syndrome characterized mainly by short stature.
  • Shprintzen omphalocele syndrome: A rare syndrome characterized mainly by abnormal development of the pharynx and larynx which can result in a narrowed airway. Protrusion of intestines through the belly button also occurs. The voice is high pitched and spinal curvature and learning problems are other common symptoms.
  • Shprintzen syndorme: An inherited syndrome of cardiac defects and craniofacial anomalies and various other abnormalities.
  • Siderius type X-linked mental retardation syndrome: A rare inherited form of mental retardation involving a defect on chromosome Xp11.2. The symptoms are evident in males but females may be carriers.
  • Skeletal symptoms: Symptoms affecting the skeletal system such as the bones.
  • Skull symptoms: Symptoms affecting the skull surrounding the brain.
  • Smith-Fineman-Myers syndrome 1: A rare inherited disorder characterized mainly by mental retardation and low facial muscle tone. The genetic defect occurs on chromosome Xq13.
  • Spondylo-ocular syndrome: A rare, recessively inherited syndrome characterized mainly by eye and spinal abnormalities.
  • Spondyloepimetaphyseal dysplasia, genevieve type: A recessively inherited disorder characterized mainly by abnormal bone development (epiphyses, metaphyses and vertebrae) as well as mental retardation. The abnormalities become progressively worse with age.
  • Stoll Levy Francort Syndrome: A very rare syndrome characterized mainly by limb abnormalities, deafness and an abnormal heart rhythm.
  • Syndromic diarrhea: Severe, early-onset diarrhea associated with facial, hair and immune system abnormalities. Most require permanent parenteral nutrition.
  • Thiele syndrome: A very rare syndrome characterized mainly by mental retardation, unusual facial appearance and a small head.
  • Thrombocytopenia -- Multiple Congenital Anomalies: A rare inherited condition characterized by thrombocytopenia, neurological problems and various malformations.
  • Timothy syndrome: A rare syndrome characterized by webbed fingers and a heart defect. Most affected individuals die during early childhood or infancy.
  • Toe syndactyly, telecanthus, and anogenital and renal malformations: A rare X-linked syndrome characterized by webbed toes, telecanthus and kidney, genital and anal malformations.
  • Trimethadione -- Teratogenic Agent: There is evidence to indicate that exposure to Trimethadione 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.
  • Trisomy 12 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 12 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.
  • Trisomy 18 mosaicism: A rare genetic chromosomal syndrome where the child has an extra third copy of chromosome 18 in only some of the body's cells. It is a less severe form of Edwards syndrome - the most severe form involves and extra copy of chromosome 18 in all of the body's cells. The severity of the condition is highly variable depending on how many of the body's cells are involved.
  • Trisomy 21 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 1 in some of the body's cells. The presence of trisomy 20 in all cells causes Down's syndrome and thus the presence in fewer body cells results in conditions that are similar to Down's but tend to be milder.
  • Trisomy 3 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 3 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.
  • Trisomy 4 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 4 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.
  • Trisomy 5 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 5 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.
  • Trisomy 6 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 6 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.
  • Trisomy 8 mosaicism: 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.
  • Unusual facies, Myelodysplasia and immunodeficiency: A rare syndrome characterized mainly by an unusual facial appearance, myelodysplasia and immunodeficiency.
  • Unusual facies, digital anomalies, and supernumerary teeth: A rare, dominantly inherited syndrome characterized mainly by an unusual face, extra teeth and anomalies of the fingers and toes.
  • Unusual facies, hepatic fibrosis, renal cysts and mental retardation: A rare syndrome characterized mainly by liver fibrosis, unusual facial appearance, kidney cysts and mental retardation.
  • Unusual facies, mental retardation, short stature, hemolytic anemia and delayed puberty: A rare syndrome characterized mainly by an unusual facial appearance, mental retardation, short stature, hemolytic anemia and delayed puberty.
  • Unusual facies, oligodontia and precocious choroid calcifications: A rare syndrome characterized mainly by an unusual facial appearance, missing teeth and calcification of part of the brain called the choroid plexus.
  • Unusual facies, preauricular pits, fifth finger clinodactyly and tetralogy of Fallot: A rare syndrome characterized mainly by facial anomalies, finger defect and a heart abnormality.
  • Unusual facies, renal and Mullerian hypoplasia and severe somatic and mental retardation: A rare syndrome characterized mainly by underdeveloped kidneys and Mullerian structures, unusual facial appearance and severe somatic and mental retardation.
  • Unusual facies, short stature, enamel hypoplasia, stiff joints and high-pitched voice: A rare syndrome characterized mainly by short stature, stiff joints, unusual facial appearance, high-pitched voice and underdeveloped tooth enamel.
  • Unusual facies, short webbed neck, mental retardation, short stature: A rare syndrome characterized by an unusual facial appearance, short webbed neck, mental retardation and short stature
  • Unusual facies, skeletal abnormalities, communicating hydrocephalus: A newly described malformation syndrome characterized by unusual facial appearance, various skeletal abnormalities and communicating hydrocephalus.
  • Valproic Acid -- Teratogenic Agent: There is evidence to indicate that exposure to Valproic Acid 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.
  • Visceral neuropathy -- brain anomalies -- facial dysmorphism -- developmental delay: A rare syndrome characterized by developmental delay, unusual facial appearance, brain anomalies and impaired intestinal motility.
  • Wagner-Stickler Syndrome: There is confusion about whether Wagner and Stickler disease are actually extremes of the same disorder and thus the term Wagner-Stickler syndrome is sometimes used. Both conditions involve varying degrees of degeneration of eye structures with Stickler syndrome also involving other variable symptoms such as deafness and facial, oral and skeletal abnormalities.
  • Warfarin -- Teratogenic Agent: There is evidence to indicate that exposure to Warfarin 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.
  • Wiedemann Grosse Dibbern syndrome: A syndrome which is characterized by the association of symptoms such as abnormal facial appearance, short stature and psychomotor retardation.
  • Wilkie Taylor Scambler syndrome: A syndrome characterised by cataracts with microphthalmia and septal defect
  • Zechi-Ceide Syndrome: A rare syndrome characterized mainly by a brain anomaly, unusual facial appearance and large feet. The three observed siblings were born to related parents and the range of anomalies was variable amongst them.

Conditions listing medical symptoms: Unusual facial appearance:

The following list of conditions have 'Unusual facial appearance' 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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