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25 Possible Causes for Flat Affect, Round Face in Infancy, Short Neck

  • 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] The Fit This Classic Fit essential fits like a well-loved favorite, featuring a crew neck, short sleeves and sure to be your new favorite tee.[sevenly.org] […] 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]

  • Goldberg-Shprintzen Syndrome

    Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger[orpha.net] 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]

  • XXXXY Syndrome

    We report a case of 49, XXXXY syndrome confirmed by chromosomal study in neonatal period, whose clinical features included a coarse face, short neck, micropenis, and other[kjp.or.kr] 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]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    The neck is short in nearly half of the patients. The facial appearance may change with age being more triangular in adolescents and adults.[ojrd.biomedcentral.com] 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]

  • Weaver Syndrome

    The prime anesthetic problem reported in children with Weaver syndrome is difficulty with tracheal intubation, resulting in part from relative micrognathia, short neck, and[ncbi.nlm.nih.gov] 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]

  • Spondyloepimetaphyseal Dysplasia Type Geneviève

    Affiliated tissues include bone and skin , and related phenotypes are short neck and nystagmus OMIM : 57 Spondyloepiphyseal dysplasia of the Genevieve type (SEMDG) is characterized[malacards.org] face Ataxia Nevus Thickened skin Ventriculomegaly Hydrocephalus Behavioral abnormality EEG abnormality Sporadic Mental deterioration Acrania Death in infancy Abnormality[mendelian.co] In some cases, affected individuals also have an abnormally flat face, underdevelopment of the cheek bone (malar hypoplasia), and/or incomplete closure of the roof of the[rarediseases.org]

  • Cole-Carpenter Syndrome

    , axilla and popliteal areas), joint contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature[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]

  • Optic Atrophy-Intellectual Disability Syndrome

    […] stature-intellectual disability-eye anomalies-cleft lip/palate syndrome Short stature-webbed neck-heart disease syndrome Short ulna-dysmorphism-hypotonia-intellectual disability[se-atlas.de] 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]

  • Char Syndrome

    […] ears that are rotated towards the back of the head a small jaw a short neck with excess skin folds a lower-than-usual hairline at the back of the head and neck Children with[nhs.uk] 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]

  • Wolf-Hirschhorn Syndrome

    Newborns have multiple defects – micrognathia , short neck, congenital heart defects and renal malformations. The children look weak and fragile.[wikilectures.eu] 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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