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29 Possible Causes for Flat Affect, Round Face in Infancy

  • Autism

    Her clinical features included hypotonia and feeding difficulties during infancy, coarse face with notably prominent forehead, prominent eyebrows, broad flat nasal bridge[ncbi.nlm.nih.gov] […] and round cheeks, small hands and feet with bilateral brachymetaphalangism, proximal implantation of the thumbs and short toenails, mild mental retardation and autistic behaviour[ncbi.nlm.nih.gov]

  • XXXXY Syndrome

    face in infancy,(Look very much like a cherub) coarse features in older age, hypertelorism, epicanthal folds, prognathism, gynecomastia (rare), congenital heart defects ([web.archive.org] Affected individuals have distinctive facial features that can include widely spaced eyes ( ocular hypertelorism ), outside corners of the eyes that point upward ( upslanting[ghr.nlm.nih.gov] Other features include severely impaired speech, behavioral problems, short or broad neck, low birth weight, hyperextensible joints, short stature, round face in infancy,[web.archive.org]

  • Weaver Syndrome

    Although both sexes are affected, the sex ratio is 2M:1F.[atlasgeneticsoncology.org] Craniofacial: macrocephaly, flat occiput, redundant nuchal skin folds, broad forehead with frontal bossing, thin scalp hair, hypertelorism, upslanting or downslanting palpebral[atlasgeneticsoncology.org]

  • Optic Atrophy-Intellectual Disability Syndrome

    Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu] Most affected individuals have facial features described as coarse.[nfed.org] The conference has a fundraising goal of 5,000 so all families affected by BBSOAS will not have to pay for the conference.[ultrasignup.com]

  • Cole-Carpenter Syndrome

    Round face Wide anterior fontanel Rhizomelia Coxa vara Relative macrocephaly Thoracolumbar scoliosis Feeding difficulties Breech presentation Lumbar scoliosis Dentinogenesis[mendelian.co] An individual affected by the syndrome may have broad cheeks, a flat nasal bridge, and a wide upturned nose with abnormally large nasal openings.[en.wikipedia.org] Some affected individuals also have dental abnormalities including small primary (baby) teeth. Vision problems also frequently occur.[ghr.nlm.nih.gov]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    50–65 ASD, VSD, PDA, LSVC, aortic atresia, dextrocardia, TOF, tricuspid atresia 22, 154 Deletion 5p (cri-du-chat) Catlike cry, prenatal and postnatal growth retardation, round[circ.ahajournals.org] Symptoms and Signs Affected neonates tend to be placid, rarely cry, and have hypotonia.[merckmanuals.com] Patients present with short stature, flat nasal bridge, and joint findings. Urine GAGs are normal in MPS IX.[mayomedicallaboratories.com]

  • Goldberg-Shprintzen Syndrome

    In infancy, there are excess nuchal skin, a rounded skull shape, a sparse fine hair and a puffy anterior neck; the face is square shaped with high forehead, frontal bossing[ojrd.biomedcentral.com] The main skeletal findings in SGS are arachnodactyly, flat feet, pectus deformity, scoliosis and hypermobile joints [ 1 ].[panafrican-med-journal.com] Prevalence of SGS is unknown, and it is difficult to determine the number of affected individuals, because some cases diagnosed as SGS could well be Marfan syndrome or Loeys-Dietz[panafrican-med-journal.com]

  • Char Syndrome

    Note the round face with full cheeks, hypertelorism, epicanthal folds, and apparently low-set ears. Child with cri-du-chat syndrome.[emedicine.medscape.com] A, Typical facial features of Char syndrome in an affected 46-year-old woman from the Arkansas family.[ahajournals.org] Cri-du-chat syndrome is an autosomal deletion syndrome caused by a partial deletion of chromosome 5p and is characterized by a distinctive, high-pitched, catlike cry in infancy[emedicine.medscape.com]

  • Wolf-Hirschhorn Syndrome

    Microcephaly Round, moonlike face Wide-set, downward-slanting eyes Strabismus Epicanthal folds Williams syndrome Type of abnormality: deletion Critical region: 7q11.23 Mental[alpfmedical.info] Most individuals affected by this disorder have distinctive facial features, such as a broad, flat nasal bridge and a high forehead described as the “Greek warrior helmet”[medcraveonline.com] Note the round face with full cheeks, hypertelorism, epicanthal folds, and apparently low-set ears. Child with cri-du-chat syndrome.[emedicine.medscape.com]

  • Congenital Non-Progressive Ataxia

    Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu] For example, affected individuals have exhibited skeletal malformations, such as fusion of certain bones in the spinal column of the neck (cervical vertebrae), flat feet ([rarediseases.org] The disorder is characterized by intellectual disability and delayed development, small head size (microcephaly), low birth weight, and weak muscle tone (hypotonia) in infancy[tsbvi.edu]

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