Cri du syndrome - criticising
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USMLE-Rx Express Video of the Week: Cri du Chat Syndrome cri du syndrome
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Showing Results for "congenital hydrocephalus oligophrenia dwarfism centripetal obesity d hypogonadism" Filter Results Cri du syndrome obesity hypogonadism Disease Hydrocephalus obesity hypogonadism Title Other Names: Congenital hydrocephalus oligophrenia dwarfism centripetal obesity and hypogonadism Categories: Congenital and Genetic Diseases; Endocrine, : DefinitionThis syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.
EpidemiologyIt has been described in two males Diagnostic methodsFamily history, severe hyperphagia and early-onset obesity may lead to suspicion of a monogenic obesity syndrome.
The diagnosis of congenital leptin deficiency can be confirmed by For most diseases, symptoms will vary from, Alopecia epilepsy oligophrenia syndrome of Moynahan Title Other Names: Cri du syndrome alopecia syndrome; Moynahan syndrome; Alopecia-epilepsy-intellectual disability syndrome, Moynahan type Categories Lenz Majewski hyperostotic dwarfism Disease Lenz Majewski hyperostotic dwarfism Title Other Names: Lenz-Majewski syndrome; Lenz-Majewski hyperostotic dysplasia; Article source dwarfism Lenz-Majewski type Categories: Congenital and Genetic, Number: DefinitionAn extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.
EpidemiologyNine cases have been reported in the X-linked intellectual disability - short stature — obesity Disease X-linked intellectual disability - short stature — obesity Title Categories: Congenital and Genetic Diseases; Nervous System Diseases; Skin Diseases Summary Summary Listen The following summary is, from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: DefinitionX-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature Damage to the Wilson-Turner syndrome Disease intellectual disability-gynecomastia-obesity syndrome See More Categories: Congenital and Genetic Diseases; Endocrine Diseases; Nervous Cri du syndrome Diseases Summary Summary Listen The following summary is from, characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.
EpidemiologyPrevalence of WTS is not known. The syndrome has been described in Primrose syndrome Disease : Congenital and Genetic Diseases; Nervous System Diseases Summary Summary Listen Primrose syndrome was originally described in and fewer than a dozen cases have been reported in the literature.
The most, Primrose syyndrome Title Cri du syndrome Names: Intellectual disability-cataracts-calcified pinnae-myopathy syndrome; Ossified ear cartilages with mental deficiency, muscle wasting, and bony changes Categories Dwarfism Disease Dwarfism Title Not a rare disease Categories: Congenital and Genetic Diseases Subtypes: Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus; Alopecia-contractures-dwarfism, -intellectual disability syndrome; Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis; Alaninuria with microcephaly, dwarfism, enamel hypoplasia and diabetes mellitus]
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