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1,261 Possible Causes for Dysmorphic Face, Square Prognathic Jaw

  • Smith-Magenis Syndrome

    […] face brachycephaly full cheeks deep-set eyes heavy brows square jaw micrognathia fleshy upper lip bulky philtral pillars prognathism (late feature) short stature failure[en.wikibooks.org] Facial dysmorphisms include broad and square-shaped face, mild face hypoplasia, brachicephaly, short nasal philtrum, a tendency toward an everted upper lip, and relative prognathism[intechopen.com] There is striking broadening of the lower jaw, increasing the squareness of the face, with associated prognathism. Midface flattening is accentuated.[jmg.bmj.com]

  • Klinefelter Syndrome

    Klinefelter syndrome is a genetic disorder associated with male hypogonadism, gynecomastia and reduced fertility. Other symptoms include erectile dysfunction, osteoporosis, language and learning impairment and behavioral problems. Hypogonadism gynecomastia and infertility are the most common symptoms that suggest a[…][symptoma.com]

    Missing: Square Prognathic Jaw
  • Marfan Syndrome

    The Marfan syndrome is an inherited disorder of the connective tissue which is mainly caused by a mutation in the fibrillin-1 gene. The defect in the connective tissue protein can lead to several organ dysfunctions. For the life expectancy, the cardiovascular aspect is of paramount importance. Patients with Marfan[…][ncbi.nlm.nih.gov]

    Missing: Square Prognathic Jaw
  • Skeletal Dysplasia

    Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe “boomerang dysplasia”?.[nature.com]

    Missing: Square Prognathic Jaw
  • Patau Syndrome

    Please log in to edit this article. Edit Synonym: Trisomy 13, Bartholin-Patau-Syndrome German : Trisomie 13, Pätau-Syndrom 1 Definition The Patau syndrome, also known as trisomy 13, is a malformation syndrome that is caused by a numerical chromosome aberration. A separation error during the meiosis leads to there[…][flexikon.doccheck.com]

    Missing: Square Prognathic Jaw
  • Growth Hormone Deficiency

    Abstract Growth hormone deficiency (GHD) diagnosed in childhood may persist into adult life. After attainment of final height, retesting of the patient's growth hormone-insulin-like growth factor (GH-IGF) axis using the adult GHD diagnostic criteria should be performed after an appropriate interval of 1-3 months off[…][ncbi.nlm.nih.gov]

    Missing: Square Prognathic Jaw
  • Laron Syndrome

    The siblings had typical dysmorphic facies: frontal bossing, shallow orbit with blue sclera, saddle nose, mid-face hypoplasia, thin and silky hair and pale texture of skin[pubs.sciepub.com]

    Missing: Square Prognathic Jaw
  • Bloom Syndrome

    , and "typical" erythematous sun-sensitive skin lesions of the face.[ncbi.nlm.nih.gov] Characteristic findings on physical examination The hallmark physical features are proportionate dwarfism, facial dysmorphisms including narrow face, small mandible, prominent[dermatologyadvisor.com] […] syndrome is an autosomal recessive condition characterized by severe pre- and postnatal growth deficiency, immunodeficiency, an increased risk for malignancies, craniofacial dysmorphisms[ncbi.nlm.nih.gov]

    Missing: Square Prognathic Jaw
  • Congenital Muscular Dystrophy

    In some of the patients, facial dysmorphism was also reported: the forehead was high and prominent with a wide fontanel, the mid-face was flat, and the nose and filtrum short[doi.org] Other common features include hydrocephalus and dysmorphic face (short nasal bridge, micrognathia, and midface hypoplasia) 184.[doi.org] A few years after the Santavouri’s report [ 23 ], Dambska [ 24 ] described the “cerebro-ocular muscular syndrome” on three siblings who manifested with dysmorphic face, hypotonia[doi.org]

    Missing: Square Prognathic Jaw
  • Mucopolysaccharidosis

    Mucopolysaccharidosis type IVB (MPS IVB) is a very rare lysosomal storage disorder characterized by skeletal dysplasia, hearing disorder, and cardiac valvular disease. Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve replacement. The[…][ncbi.nlm.nih.gov]

    Missing: Square Prognathic Jaw

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