Glossary for Long nose

Medical terms related to Long nose or mentioned in this section include:

• 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.
• Acromegaloid hypertrichosis syndrome: A rare genetic condition characterized by excess body hair and a coarse face. The severity of the condition is variable.
• Angelman-Like Syndrome, X-linked: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
• Arima syndrome: A rare disorder characterized mainly by eye and brain abnormalities.
• Arthrogryposis: A condition which is characterized by the persistent flexure of a joint
• Arthrogryposis multiplex congenita type 2B: A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities.
• Arthrogryposis, distal, type 2B: A form of distal arthrogryposis (joint contractures in ends of limbs) that also involves craniofacial abnormalities.
• 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).
• Blepharophimosis telecanthus microstomia: A rare syndrome characterized by a flat face, small mouth and ear anomaly as well as a range of other abnormalities.
• Carbon Baby Syndrome: A rare condition characterized by progressive increase in pigmentation of mucosal lining and skin.
• Chromosome 1, monosomy 1p34 p32: A rare chromosomal disorder where deletion of a portion of chromosome 1 causes various abnormalities such as mental retardation, fingernail anomalies and testicular problems.
• Chromosome 13p duplication: A rare chromosomal disorder where duplication of a portion of chromosome 13 causes various abnormalities such as mental retardation, short stature, facial dysmorphism, delayed puberty and heart defects.
• 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 21, monosomy 21q22: A rare chromosomal disorder where a portion of the long arm of chromosome 21 is deleted.
• Chromosome 7, monosomy 7q3: A very rare chromosomal disorder involving a deletion of material from chromosome 7 at a location known as q3 which results in a wide range of abnormalities.
• Chromosome 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 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.
• Deletion 6q16 q21: A rare chromosomal disorder characterized primarily by facial anomalies, mental retardation and a short head.
• Ehlers-Danlos syndrome, classic type: A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility - a combination of ED types I and II.
• Fitzsimmons-McLachlan-Gilbert syndrome: A very rare syndrome characterized mainly by mental retardation paraplegia and thickened coarse skin on palms and soles.
• Grix-Blankenship-Peterson syndrome: A very rare syndrome characterized mainly by mental retardation, bone defects and head and face abnormalities.
• Harrod Doman Keele syndrome: A very rare syndrome characterized mainly by skull, facial, genital, finger and toe abnormalities.
• Hydrocephaly low insertion umbilicus: A very rare syndrome characterized mainly by a buildup of fluid inside the skull, umbilical cord abnormalities and heart defects.
• MRXS-Christianson: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
• Marfanoid - mental retardation syndrome autosomal: A very rare syndrome characterized mainly by psychomotor retardation, a flat face and some symptoms of Marfan syndrome (long arms and legs, tall stature, reduced skin fat and poor muscle tone).
• Mental retardation, Microcephaly, Epilepsy and Ataxia Syndrome: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
• Mental retardation, X-linked - acromegaly - hyperactivity: A rare syndrome characterized mainly by mental retardation, hyperactivity and enlarged hands, feet and testes.
• Mental retardation, X-linked - craniofacial dysmorphology - epilepsy - ophthalmoplegia - cerebellar atrophy: A very rare syndrome characterized mainly by mental retardation, mutism, facial anomalies, epilepsy and weak eye muscles. Males tended to have severe mental retardation whereas female carriers had mild or no mental retardation. Patients do eventually walk but then often lose this ability by the age of 10 years. Female carriers tend to have mild symptoms and males have severe symptoms - symptoms are variable to some degree.
• Oculodentoosseous dysplasia recessive: A very rare recessively inherited syndrome characterized mainly by eye, tooth and finger abnormalities. The eye abnormalities tend to be more severe than in the dominant form of the disorder.
• Palmer-Pagon syndrome: A very rare syndrome characterized mainly by a buildup of fluid inside the skull, umbilical cord abnormalities and heart defects.
• Pfeiffer-Mayer syndrome: A very rare syndrome characterized mainly by mental retardation, colobomata and an extra thumb.
• Progressive black carbon hyperpigmentation of infancy: A rare condition characterized by progressive increase in pigmentation of mucosal lining and skin.
• Rapadilino syndrome: A rare genetic condition characterized primarily by a cleft palate which has a high arch and missing or underdeveloped kneecaps as well as other anomalies.
• Renpenning syndrome: A very rare genetic disorder that affects males and is characterized mainly by mental retardation and facial anomalies.
• Renpenning syndrome 1: A very rare genetic disorder that affects males and is characterized mainly by mental retardation and facial anomalies.
• Simosa craniofacial syndrome: A rare disorder characterized by a range of facial anomalies including a high forehead, long face, flat face and a small mouth.
• Stoll-Levy-Fancfort syndrome: A rare syndrome characterized mainly by deafness, missing fingers, abnormal heart rhythm and missing bones in limbs.
• Syndactyly - cataract - mental retardation: A very rare syndrome characterized mainly by webbed fingers and toes, cataract and mental retardation.
• Syndromic Dystelephalangy: A rare syndrome characterized by bowed end bones of digits, facial anomalies and various other symptoms.
• Universal Acquired Melanosis: A rare condition characterized by progressive increase in pigmentation of mucosal lining and skin.
• X-linked Genetic Diseases: Genetic disease where the mutated gene is on the X chromosome

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