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58 Possible Causes for Brushfield Spot, Mental Retardation, Short Broad Feet

  • Oculopalatoskeletal Syndrome

    spots Fraser’s syndrome (219000) Cryptophthalmos, malformed lacrimal ducts, hypertelorism, blindness Glucose transport defect (606777) Abnormal paroxysmal eye movements;[] She had low set ears, broad hands, short fingers, and short broad feet [Figure 3] a-c. Figure 3: The features of Michels syndrome.[] […] neutropenia Op Oph Ophthalmic icthyosis Ophthalmo acromelic syndrome Ophthalmomandibulomelic dysplasia Ophthalmophobia Ophthalmoplegia ataxia hypoacusis Ophthalmoplegia mental[]

  • Down Syndrome

    Brushfield's spots: Speckled iris. Little white spots that slightly elevated on the surface of the iris arranged in a ring concentric with the pupil.[] Abstract Although there is considerable variability, most individuals with Down syndrome have mental retardation and speech and language deficits, particularly in language[] Short little finger. In-curved little finger. Short broad hands. Feet: Gap between hallux and second toes. Congenital heart defects. Duodenal atresia.[]

  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    Mild mental retardation. Usually not diagnosed until after puberty. One Barr body seen on buccal smear.[] […] nose, narrow nares, large lips, short neck, widely spaced nipples, puffy hand and feet, dark pigmented naevi, caf -au-lait spots, microcephaly, growth delay, speech delay[] spots Term Definition AD, TSC1/2 gene ash-leaf/hypopigmented macules, shagreen patch, facial angioma/adeoma sebaceum, ungual fibromas, seizures/infantile spasms, cardiac[]

  • Hypertelorism

    Down21 - non-disjunction causing trisomy 21; or Robertsonian translocation (14;21)Epicanthic folds; flat nasal bridge; protruding tongue; Brushfield spots; increased space[] The phenotype of the patients is different from that of all other previously described types of X-linked mental retardation (XLMR).[] […] and broad nose with anteverted nares, small hands and feet with interdigital webbing, umbilical hernia, and shawl scrotum.[]

  • Smith-Magenis Syndrome

    Smith-Magenis syndrome (SMS) is a rare syndrome with multiple congenital malformations, including development and mental retardation, behavioral problems and a distinct facial[] Both conditions share brachycephaly, upward slanting palpebral fissures, a short and broad nose, a round face with midface flattening, iris hamartomas (Brushfield spots in[] Since then, mental retardation, particularly in terms of language development, became increasingly more obvious.[]

  • Monosomy 21q

    Similarly, other signs not present in TY and LI but present in AL, such as Brushfield spots, abnormal teeth, joint hyperlaxity, and ventricular septal defect (table 17, are[] The first patient showed mild mental retardation and facial dysmorphism, slightly resembling the earlier described trisomy 8p phenotype.[] The patient may have an extremely prominent forehead (frontal bossing), enlargement of the back part of the head, low placement of ears, short broad hands and feet, unusually[]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    Brushfield spots (gray to white spots resembling grains of salt around the periphery of the iris) may be visible.[] Physical Appearance Williams syndrome (nonfamilial supravalvular aortic stenosis) is characterized by peculiar facies, short stature, and mental retardation.7'8'14'51'83'178'183'231'232[] The pupils may have light smudgy opaque Brushfield spots.[]

  • Chromosome 18p Deletion Syndrome

    spots Skin dimples 23 Cervical rib Broad nasal bridge 23 Extra rib Simian crease 23 Stubby fingers Abnormal placement of 2nd toe 21 hypertelorism Strabismus 20 Cataracts[] Knight Karger Medical and Scientific Publishers, 15.02.2010 - 178 Seiten This remarkable publication focuses on the importance of genetics in mental retardation, investigating[] Other characteristic features include funnel chest, enlarged labia majora, micropenis, cryptorchidism, small hands and feet, and a short, webbed neck.[]

  • Autosomal Dominant Mental Retardation Type 21

    ) spots overlying the iris of the eye.[] Mental Retardation Definition Mental retardation is a developmental disability that first appears in children under the age of 18.[] Phenotype Form of skeletal dysplasia characterized by brachydactyly, short stature, obesity, facial dysostosis (broad face, widely spaced eyes, maxillo-nasal hypoplasia),[]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    […] with mental retardation syndrome type 4 PGAP3 Hyperphosphatasia with mental retardation syndrome type 5 PIGW Hypogonadism, alopecia, Diabetes mellitus, mental retardation[] […] hands with broad thin fingers and elongated thumbs, a mild talipes calcaneovalgus deformity of the feet, small VSD, psychomotor retardation p15 489013, 3874588, 4043965,[] The pupils may have light smudgy opaque Brushfield spots.[]

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