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434 Possible Causes for Blonde Hair, Mental Retardation

  • Phenylketonuria

    This may explain why persons with phenylketonuria generally have blond hair, blue eyes, and fair skin.[] Abstract Well-established dietary protocols have prevented mental retardation for infants born with phenylketonuria (PKU).[] As a result, children with PKU often will have pale skin, blond hair and blue eyes.[]

  • Prader-Willi Syndrome

    […] have fair skin, blonde hair and blue eyes, regardless of what their family members look like), and a turned-down mouth ( Better Health Channel ).[] Clinical manifestations include mental retardation; muscular hypotonia; hyperphagia; obesity; short stature; hypogonadism; strabismus; and hypersomnolence.[] Around half of all children with Prader-Willi syndrome will have fair skin, blonde hair and blue eyes, regardless of what their family members look like.Children with Prader-Willi[]

  • Smith Lemli Opitz Syndrome

    Smith-Lemli-Opitz syndrome, a syndrome of multiple malformations and mental retardation that for years was relegated to the atlases of genetic esoterica, was recently found[] It comprises a characteristic combination of facial features, malformations, and mental retardation.[] Affected individuals have dysmorphism, short stature, failure to thrive, microcephaly, multiple congenital malformations, and mental retardation.[]

  • Homocystinuria

    The hereditary form features sparse blond hair, OSTEOPOROSIS with overgrowth of long bones, a hollowed chest, dislocation of the lenses of the eyes and mental retardation.[] It is important to carry out ophthalmological examination in every case of megaloblastic anemia if associated with blurring of vision and mental retardation.[] Homocystinuria usually presents with ectopia lentis, mental retardation, thromboembolic complications, and skeletal abnormalities.[]

  • Hyperphenylalaninemia

    Clinically, there is a marked mental retardation and complex basal ganglion symptoms.[] Abstract Three siblings with hyperphenylalaninemia were described, who showed convulsions and severe mental retardation despite dietary control of blood phenylalanine.[] Abstract Maternal hyperphenylalanemia during pregnancy may induce a severe embryopathy characterized by microcephaly, mental retardation, facial dysmorphy and congenital heart[]

  • Classical Phenylketonuria

    In addition to congenital anomalies and developmental delay, blond hair, fair skin and unusual urinary odor were noted.[] The high prevalence of PKU in the mentally retarded population in Iran could be indicative of a high incidence of the disease among Iranian neonates.[] This may explain why persons with phenylketonuria generally have blond hair, blue eyes, and fair skin.[]

  • Histidinemia

    The histidinemia appears to be unrelated to the mental retardation or the encephalopathy in this family.[] The results of this study indicate that histidinemia is harmless with respect to mental retardation.[] A metabolic disorder characterized by speech defects, growth deficiency, and mild mental retardation in some patients; associated with elevation of blood histidine level and[]

  • Patau Syndrome

    He would have had blond hair and blue eyes - his father and I shared that colouring. He might have had my prominent chin; definitely a grin all his own.[] Survivors suffer from severe mental retardation and health problems all their lives.[] It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities The presence[]

  • Oculocerebral Hypopigmentation Syndrome Type Cross

    hair with yellow-gray metallic sheen, small eyes with cloudy corneas, jerky nystagmus, gingival fibromatosis and severe menta...[] In addition to the cutaneous hypopigmentation, both presented deep mental retardation and spastic tetraplegia with athetoid movements.[] " Cross syndrome ", " hypopigmentation and microphthalmia ", and " oculocerebral-hypopigmentation syndrome ") is an extremely rare disorder characterized by white skin, blond[]

  • Acrodysostosis

    Blond hair Fair hair color Flaxen hair color Light colored hair Sandy hair color Straw colored hair Towhead (hair color) [ more ] 0002286 Global developmental delay 0001263[] Acrodysostosis--a rare congenital malformation syndrome--is described in a 4 1/2 year old boy with peripheral dysostosis, nasal hypoplasia, mental retardation (PNM syndrome[] retardation.[]

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