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321 Possible Causes for short, Thick Lips, Upturned Nose

  • Costello Syndrome

    Fewer individuals with p.G13C had short stature (height below -2 SD) without use of growth hormone (P 0.001).[] Ultrasonographic morphological fetal face analysis found abnormal thickness of the skin in the prefrontal area, thick dysplastic ears, thick lips and deep-set creases in the[] lips, thick lobes, ears set low and large head), mental retardation, dry and thick leg, arm, feet and hand skin, and excessively flexible finger joints.[]

  • Williams-Beuren Syndrome

    A short-term longitudinal single case study was carried out spanning 10 months.[] lips, small jaw, dental anomalies, hoarse voice, strabismus, stellate iris pattern, supravalvular aortic stenosis (SVAS), pulmonary artery stenosis, mitral valve prolapse[] nose, long philtrum, wide mouth, full lips, and pointed chin), a sociable personality, and mild to moderate mental retardation but a high verbal aptitude Comments on Williams[]

  • Atkin Syndrome

    Orpha Number: 1193 Disease definition Atkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies[] […] supraorbital ridges Thick lower lip vermilion Mental retardation Coarse face Prominent/Broad forehead Supraorbital ridges Wide-set eyes Broad nose tip Anteverted nostrils[] Orpha Number: 1193 Disease definition Atkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short stature , macrocephaly, and characteristic facies[]

  • Coffin-Lowry Syndrome

    Large soft hands with short, hyperextensible tapering fingers, tufted drumstick and short distal phalanges and flat feet characterize limb abnormalities.[] lips, a thick nasal septum with anteverted nares, and irregular or missing teeth.[] Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Brachydactyly Short fingers or toes 0001156 Broad finger Broad fingers Wide fingers [ more ] 0001500 Coarse[]

  • Hypertrichotic Osteochondrodysplasia

    Diseases related with Cardiomyopathy and Short phalanx of finger In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Short[] […] eyebrow Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ] 0000574 Thick vermilion border Full lips Increased volume of lip Plump lips[] Micrognathia, a short upturned nose and a short philtrum were present. The blood pressure was 190/135 mm/hg. An echocardiogram demonstrated normal heart anatomy.[]

  • Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

    KEYWORDS: SPONASTRIME dysplasia; short dental roots; hypogammaglobulinemia; cataracts; JOURNAL: American Journal of Medical Genetics Part A SOURCE: Wiley journal DOI: 10.1002[] […] vermilion border Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ] 0012471 5%-29% of people have these symptoms Cataract Clouding of the lens[] nose, prognathism) and abnormal radiological findings, which include abnormal vertebral bodies (particularly in the lumbar region), striated metaphyses, generalized mild[]

  • Aspartylglucosaminuria

    The nose is short and broad and the face is usually square-shaped.[] lips and a square shape of face, was found to be present long before the coarsening begins.[] Progressive mental retardation is the main symptom, and the lifespan of the patient is abnormally short.[]

  • Robinow Syndrome

    We describe a child with short stature of prenatal onset, rhizomelic limb shortness affecting the upper limbs particularly, and an unusual face.[] Note dysplasia, scaphocephalic macrocephaly, coarse facial features, depressed nasal bridge, broad nasal tip, thick lips, short neck, protuberant abdomen, inguinal hernia,[] nose - Anteverted nostrils - Flat nasal bridge - Wide triangular mouth - long philtrum - Horizontal upper lip - Short palate - Misaligned teeth - Gum hypertrophy - Hypoplastic[]

  • Mucopolysaccharidosis 1H

    The spine develops thoracolumbar kyphosis and is short. The hands are short and thick and the fingers are stubby, with stiff flexed interphalangeal joints.[] A large mouth with thick lips may also be present. There is slight protrusion of the eyes.[] nostrils, full cheeks and enlarged lips), cardiomyopathy and valvular abnormalities, neurosensorial hearing loss, enlarged tonsils and adenoids, and nasal secretion.[]

  • Spondyloepiphyseal Dysplasia Type Cantú

    We propose that the SEDL locus lies on the distal part of the short arm of the X chromosome. PubMed[] lip Prominent lower lip [ more ] 0000179 Thick upper lip vermilion Full upper lip Increased volume of upper lip Plump upper lip Prominent upper lip Thick upper lip [ more[] Symptoms via clinical synopsis from OMIM: 57 Head And Neck Neck: short neck wide neck Head And Neck Nose: depressed nasal bridge broad nasal bridge upturned nose Skeletal[]

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