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195 Possible Causes for Broad and Flat Nose, short, Upturned Nose

  • Acrodysostosis

    A 12 year old girl with acrodysostosis: a rare cause of short stature. Sri Lanka Journal of Child Health, 38(2), pp.72–73. DOI: Published on 11 Jul 2009.[sljch.sljol.info] Other common abnormalities include short head (as measured front to back), small broad upturned nose with flat nasal bridge, protruding jaw, increased bone age, intrauterine[en.wikipedia.org] In addition, he also had facial abnormalities of frontal bossing, hypertelorism, maxillary hypoplasia, broad low nasal bridge, short upturned nose with anteverted nostrils[ncbi.nlm.nih.gov]

  • Pallister-Killian Syndrome

    Most common signs include facial dysmorphism, rhizomelic limb shortness, small hands and feet with nail hypoplasia.[orpha.net] The dysmorphic features included a board forehead with high anterior hairline, hypertelorism, flat nasal bridge, short upturned nose, down turned corners of the mouth, short[ashg.org] Table 2 Clinical features 1 Female 18y/22y Flat, broad nasal root, upslanting palpebral fissures, hypertelorism, coarse face, anteverted nostrils, retrognathia, small ears[molecularcytogenetics.biomedcentral.com]

  • Coffin-Lowry Syndrome

    Large soft hands with short, hyperextensible tapering fingers, tufted drumstick and short distal phalanges and flat feet characterize limb abnormalities.[whonamedit.com] […] supraorbital ridges with bushy brows, downwardly slanted palpebral fissures, hypertelorism, blepharoptosis, large and prominent ears, large nose with broad base and elongated[accessanesthesiology.mhmedical.com] Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Brachydactyly Short fingers or toes 0001156 Broad finger Broad fingers Wide fingers [ more ] 0001500 Coarse[rarediseases.info.nih.gov]

  • Robinow Syndrome

    We describe a child with short stature of prenatal onset, rhizomelic limb shortness affecting the upper limbs particularly, and an unusual face.[ncbi.nlm.nih.gov] There is marked hypertelorism with midfacial hypoplasia and a short upturned nose. The nasal bridge may be depressed or flat. The forehead is broad and prominent.[jmg.bmjjournals.com] nose - Anteverted nostrils - Flat nasal bridge - Wide triangular mouth - long philtrum - Horizontal upper lip - Short palate - Misaligned teeth - Gum hypertrophy - Hypoplastic[ibis-birthdefects.org]

  • Pallister W Syndrome

    Case presentation The proband is a 14 month-old girl with short stature and mental retardation. This was the first child from healthy unrelated parents.[molecularcytogenetics.biomedcentral.com] flat nose, widely spaced slanted eyes, and/or downslanting eyelid folds (palpebral fissures).[hekimce.com] Individuals with Williams syndrome display typical facial features, including: prominent cheeks upturned nose wide mouth irregular, widely spaced teeth.[contact.org.uk]

  • 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.[medcaretips.com] They also tend to look similar: Shorter than average, with stocky build Large head, bulging forehead Thick lips, widely spaced teeth, and large tongue Short, flat nose with[webmd.com] nostrils, full cheeks and enlarged lips), cardiomyopathy and valvular abnormalities, neurosensorial hearing loss, enlarged tonsils and adenoids, and nasal secretion.[orpha.net]

  • Metaphyseal Acroscyphodysplasia

    […] with cone-shaped epiphyses, short hands and feet, dental malocclusion.[pure.unipa.it] Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [ more ] 0000431 5%-29% of people have these symptoms Flat face Flat facial shape[rarediseases.info.nih.gov] The femoral diaphyses are very short and broad, and there is progressive coxa valga.[ncbi.nlm.nih.gov]

  • Costello Syndrome

    Fewer individuals with p.G13C had short stature (height below -2 SD) without use of growth hormone (P 0.001).[ncbi.nlm.nih.gov] Characteristic facial features include: down-slanting palpebral fissures, short nose with flat nasal bridge, tall broad forehead, widow's peak in the anterior hairline, and[orpha.net] Costello syndrome is characterized by severe failure-to-thrive, short stature, cardiac abnormalities (heart defects, tachyarrhythmia, and hypertrophic cardiomyopathy (HCM)[ncbi.nlm.nih.gov]

  • Williams-Beuren Syndrome

    A short-term longitudinal single case study was carried out spanning 10 months.[ncbi.nlm.nih.gov] […] forehead, periorbital fullness, flat malar, full cheeks, low nasal root, short upturned nose, long philtrum, wide mouth, thick lips, small jaw, dental anomalies, hoarse voice[scielo.br] 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[merriam-webster.com]

  • Pallister-Hall Syndrome

    Mutations that cause Pallister–Hall syndrome typically lead to the production of an abnormally short version of the GLI3 protein.[en.wikipedia.org] […] with upturned nostrils with a flat or broad nasal bridge.[ucsdguardian.org] At birth, his weight was 2865 g (50%), length was 48.5 cm (60%), and head circumference was 31.5 cm ( Physical examination at birth revealed a flat, broad nasal root and upturned[ajnr.org]

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