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192 Possible Causes for Blonde Hair, Mental Retardation, Round Face

  • 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 ).[hwns.com.au] (Menkes, Textbook of Child Neurology, 5th ed, p229) Definition (CSP) congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting[fpnotebook.com] Prader-Willi syndrome is a genomic imprinting disorder, characterized by obesity, hyperphagia, mental retardation, short stature and hypogonadism.[ncbi.nlm.nih.gov]

  • Zellweger Syndrome

    Patients with Lowe’s syndrome often exhibit typical facial determinants such as deep-set eyes, frontal bossing, chubby cheeks, as well as a fair complexion with a blonde hair[news-medical.net] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club[rarediseases.info.nih.gov] A 13-year-old girl with severe mental retardation, tapetoretinal degeneration, an extinguished electroretinogram and sensoneurinal hearing loss is described.[ncbi.nlm.nih.gov]

  • Acrodysostosis

    hair.[rarediseases.org] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Scoliosis Abnormal curving of the spine 0002650 Short metacarpal Shortened long bone of hand[rarediseases.info.nih.gov] retardation.[ncbi.nlm.nih.gov]

  • Mandibulofacial Dysostosis

    hair.[rarediseases.org] The hallmarks of the syndrome are a round, flat face, severe hypertelorism, downslanting palpebral fissures extending to the temples, a broad nasal base, anteverted nares,[ncbi.nlm.nih.gov] Follow-up of these patients revealed growth and mental retardation, and severe language and speech delay.[ncbi.nlm.nih.gov]

  • Trichorhinophalangeal Syndrome

    Common clinical features of trichorhinophalangeal syndrome include fine, usually blond hair that requires infrequent cutting, eyebrows that are thick medially and sparse laterally[healio.com] Figure 1 Phenotypic appearance of patient 1 (A) and patient 2 (D), revealing a round face, sparse hair, thin lips and pear-shaped nose.[degruyter.com] The absence of exostosis and mental retardation rule out TRPS II.[ncbi.nlm.nih.gov]

  • Barth Syndrome

    He had a big shock of blonde hair and my mother had laboured with him for a long time. My parents never got to bring him home.[globalgenes.org] face with full cheeks, broad forehead, prominent chin, large ears and deep-set eyes What are the causes of Barth syndrome?[childrenshospital.org] There was no associated mental retardation. Disease-causing mutations have been found in all exons of the TAZ gene [ 4 , 40 , 41 ].[ojrd.biomedcentral.com]

  • Autosomal Recessive Primary Microcephaly 13

    Mental deterioration, hypopigmentation (blond hair and blue eyes), mousy body odor (from phenylacetic acid in urine and sweat).[kumc.edu] retarded.[jmg.bmj.com] retardation but without other associated malformations and no apparent aetiology.[nature.com]

  • MASS Syndrome

    If someone tried to do that today -- if you had a blonde haired, blue eyes guy who made all women wear a certain outfit, and wouldn't let women drive, and they weren't allowed[realclearpolitics.com] Cushing's Disease (ACTH secreting adenoma) Symptoms vary, but most people have central (upper body) obesity, rounded face, increased fat around the neck, and thinning arms[pituitary.mgh.harvard.edu] The acronym MASA describes four major signs: Mental retardation, Aphasia, Shuffl ing gait and Adducted thumbs.[hrcak.srce.hr]

  • Payr's Syndrome

    ‘I think it’s because of the pressure society puts on us to look a certain way - to be stick thin with blonde hair and big boobs.[dailymail.co.uk] […] name «mongoloidism» was taken) • round face straightened profile, abnormal shape of auricles • short hands, there is a specific transversal furrow on the palm • small mouth[downcentar.hr] It is difficult to establish which men with retarded psychomotor development have X-linked mental retardation.[thyroid.org]

  • Kwashiorkor

    Notice four of the children with gray-blond hair, a symptom of the protein-deficiency disease kwashiorkor. Image courtesy of Dr.[emedicine.medscape.com] Over time, the physical appearance changes to include a protruded stomach, edema, discolored hair, pigmented skin, rash and a round face.[livestrong.com] Mental and physical disability: Uncontrolled metabolic imbalance that afforded chronic insults to the brain may result in a permanent mental retardation and physical incapacities[symptoma.com]

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