Possible: Criduchat syndrome
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| Criduchat syndrome | 3 days ago · Eykyn, the oldest child of Kasey and her husband, Mike, was born with a genetic disorder called Cri du Chat syndrome, a French term for “cat cry” or “call of the cat,” referring to the. 1 day ago · Antimongolism syndrome PJ Cri-du-chat syndrome PJ Deletion of short arm of chromosome 4 PJ Other deletions of part of a chromosome PJ Deletion of long arm of chromosome 13 PJ Deletion of long arm of chromosome 18 PJ Deletion of short arm of chromosome 18 PJ33z Other deletion of part of a chromosome NOS PJ Deletions seen only at . Lujan–Fryns syndrome (LFS) is an X-linked genetic disorder that causes mild to moderate intellectual disability and features described as Marfanoid habitus, referring to a group of physical characteristics similar to those found in Marfan syndrome. These features include a tall, thin stature and long, slender limbs. LFS is also associated with psychopathology and behavioral abnormalities. |
Criduchat syndrome Video
Cri du Chat SyndromeShowing Results for "congenital criducchat oligophrenia dwarfism centripetal obesity and hypogonadism" Filter Results Criduchat 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.
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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 Criduchat syndrome Names: Moynahan 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; Hyperostotic dwarfism Lenz-Majewski type Categories: Congenital and Genetic, Number: DefinitionAn extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa syndromee progressive bone sclerosis.
EpidemiologyNine cases have been reported in the X-linked intellectual disability - the psychodynamic approach stature — obesity Disease X-linked intellectual disability - criduchat syndrome 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 System Diseases Summary Summary Listen The following summary is from, characterized by intellectual disability, truncal criduchwt, gynecomastia, hypogonadism, dysmorphic facial features, and short criduchat syndrome.
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EpidemiologyPrevalence of WTS is not known. Criduchat syndrome 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 syndrome Title Other 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 criduchat syndrome, dwarfism, enamel hypoplasia and diabetes mellitus]
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