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24 Possible Causes for Flat Affect, Osteoporosis, Round Face in Infancy

  • Autism

    Additional diagnoses included a seizure disorder, hyperprolactinemia, and osteoporosis.[ncbi.nlm.nih.gov] 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]

  • Cole-Carpenter Syndrome

    The panel diagnostics request form (German) for osteogenesis imperfecta and osteoporosis is available here.[humangenetik.uk-koeln.de] 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]

  • XXXXY Syndrome

    LOH is frequently associated with chronic conditions including cardiovascular diseases (CVD), obesity, osteoporosis, HIV infection, renal failure, and obstructive pulmonary[scienceopen.com] 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]

  • Optic Atrophy-Intellectual Disability Syndrome

    […] issue: Attention-to-Sequence Dyscalculia Aplasia Relationship Problems Disorder Issue #13 - Disorders in this issue: Multiplex Developmental Disorder Idiopathic Juvenile Osteoporosis[naset.org] 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]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    'Thinning' of the bones (osteoporosis).[patient.info] 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]

  • Char Syndrome

    Anxiety and depression Infertility Weak bones (osteoporosis) Heart and blood vessel disease Breast cancer Lung disease Diabetes and hypothyroidism Lupus and rheumatoid[slideshare.net] 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]

  • Goldberg-Shprintzen Syndrome

    Targeted disruption of the biglycan gene leads to an osteoporosis-like phenotype in mice. ‎[books.google.es] 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]

  • Autosomal Recessive Distal Osteolysis Syndrome

    Progressive focal bone destruction, including acroosteolysis and generalized osteoporosis.[iofbonehealth.org] […] disability, severe Feeding difficulties in infancy Highly arched eyebrow Apnea Failure to thrive Cataract Short stature Congenital cataract Lumbar hyperlordosis Autosomal[mendelian.co] B Micromelia Shortening may affect the “root” or proximal segment, the “middle” segment, or the “tip” of the limb.[musculoskeletalkey.com]

  • Congenital Non-Progressive Ataxia

    […] organic acid metabolism Disorder of other vitamins and cofactors metabolism and transport Distal myopathy, Nonaka type Dominant hypophosphatemia with nephrolithiasis or osteoporosis[sanfordresearch.org] 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]

  • Wolf-Hirschhorn Syndrome

    Hypoplasia or duplication of thumbs and great toes Talipes equinovarus Hypoplasia of pubic bones Vertebral and rib anomalies Defective calvaria ossification Scoliosis Kyphosis Osteoporosis[emedicine.medscape.com] 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]

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