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27 Possible Causes for Flat Affect, Muscle Hypotonia, Round Face in Infancy

  • Weaver Syndrome

    Although both sexes are affected, the sex ratio is 2M:1F.[atlasgeneticsoncology.org] Other common symptoms include hypertonia (increased muscle tone, tight muscles) as well as hypotonia (decreased muscle tone, "floppy" muscles) and a hoarse low-pitched cry[encyclopedia.com] Low or weak muscle tone 0001252 Overlapping toe Overlapping toes Overriding toes [ more ] 0001845 Prominent fingertip pads Prominent finger pads 0001212 Radial deviation[rarediseases.info.nih.gov]

  • 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] (low muscle tone) with a delay in motor skills.[kennedykrieger.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

    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] hypotonia Ocular problems Risk for rupture of medium-sized arteries Respiratory compromise if kyphoscoliosis is severe By deficient activity of the enzyme Procollagen- lysine[medicinman.cz]

  • 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] Generalized muscle hypotonia was observed at birth.[ncbi.nlm.nih.gov]

  • XXXXY Syndrome

    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] 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] Hypotonia Sex Chromosome Aberrations Sex Chromosome Disorders Syndrome Ultrasonography Urinary Tract Urinary Tract Infections Vesico-Ureteral Reflux Pub Type(s) Case Reports[unboundmedicine.com]

  • Cutaneous Mastocytosis - Short Stature - Conductive Hearing Loss - Microtia

    , broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and hydronephrosis), frequent neurodevelopmental delay, and high neonatal mortality.[mendelian.co] Craniofacial features: i. round face in infancy, ii. a prominent forehead (70%), iii. hypertelorism (76%), iv. narrow palpebral fissures (79%), v. a long philtrum (91%), vi[fetalultrasound.com] Decreased muscle tone Low muscle tone [ more ] 0001290 Underdeveloped nasal alae Underdeveloped tissue around nostril 0000430 Showing of 57 Last updated: 5/1/2019 If you[rarediseases.info.nih.gov]

  • Optic Atrophy-Intellectual Disability Syndrome

    Most affected individuals have facial features described as coarse.[nfed.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] Hypotonia Mutation Optic Atrophies, Hereditary Optic Atrophy Seizures Whole Exome Sequencing[fcd.mcw.edu]

  • Spondyloepimetaphyseal Dysplasia Type Geneviève

    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] Other features included muscle hypotonia in infancy, with delays in early motor development such as sitting and walking.[omim.org]

  • 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] Low or weak muscle tone 0001252 Recurrent fractures Increased fracture rate Increased fractures Multiple fractures Multiple spontaneous fractures Varying degree of multiple[rarediseases.info.nih.gov]

  • 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] (low muscle tone) Developmental delays/intellectual disabilities of varying degrees[jsrdf.org]

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