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63 Possible Causes for Mongoloid Slant, short, Upturned Nose

  • 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]

  • Spondyloepiphyseal Dysplasia Type Cantú

    We propose that the SEDL locus lies on the distal part of the short arm of the X chromosome. PubMed[scholar.um5.ac.ma] 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[malacards.org] Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Blepharophimosis Narrow opening between the eyelids 0000581 Brachydactyly Short fingers or toes 0001156[rarediseases.info.nih.gov]

  • Atkin Syndrome

    Orpha Number: 1193 Disease definition Atkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies[rarediseases.info.nih.gov] Orpha Number: 1193 Disease definition Atkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short stature , macrocephaly, and characteristic facies[rarediseases.info.nih.gov] upturned nose Increased breadth of nasal tip Increased breadth of tip of nose Increased width of nasal tip Increased width of tip of nose Nasal tip, broad Nasal tip, wide[rarediseases.info.nih.gov]

  • Zellweger Syndrome

    […] congenital anomalies and mental retardation syndrome with characteristic facial appearance, skeletal abnormalities, dermatoglyphic abnormalities, mental retardation and short[ncbi.nlm.nih.gov] Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Aplasia/Hypoplasia of the corpus callosum 0007370 Areflexia Absent tendon reflexes 0001284 Autosomal recessive[rarediseases.info.nih.gov] These include, but are not limited to, peroxisome biogenesis factor 13 (short arm of chromosome 2 at 2p15), peroxisome biogenesis factor 6 (short arm of chromosome 6 at 6p21[encyclopedia.com]

  • Autosomal-Recessive Robinow Syndrome

    In contrast, Ror2-/- mice have a short-limbed phenotype that is more reminiscent of the mesomelic shortening observed in RRS.[ncbi.nlm.nih.gov] slanting palpebral fissures - Exaggerated cupid bows - High vaulted / narrow palate - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hypoplastic aorta[csbg.cnb.csic.es] Clinical signs such as short stature, characteristic facial features (hypertelorism, midface hypoplasia, large nasal bridge, short upturned nose, and anteverted nares), mesomelic[orpha.net]

  • Miller Dieker Syndrome

    The Miller-Dieker syndrome (type I lissencephaly) is a neuronal migration disorder which is associated with microdeletions in the short arm of chromosome 17.[ncbi.nlm.nih.gov] nose; low-set and abnormally shaped ears; a small jaw; and a thick upper lip.[ghr.nlm.nih.gov] This will be the first case of MDS with unbalanced translocation between deleted short arm of chromosome 17 and Y chromosome.[ncbi.nlm.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 a mongoloid appearance to the eyes due to the slanting palpebral fissures, the ears are low set, the nose is flat, and there is micrognathia. 4.42 h Figure 4.43.[rrnursingschool.biz] nose - Anteverted nostrils - Flat nasal bridge - Wide triangular mouth - long philtrum - Horizontal upper lip - Short palate - Misaligned teeth - Gum hypertrophy - Hypoplastic[ibis-birthdefects.org]

  • Kaufman Oculocerebrofacial Syndrome

    The "blepharophimosis-mental retardation" syndromes (BMRS) consist of a group of clinically and genetically heterogeneous congenital malformation syndromes, where short palpebral[ncbi.nlm.nih.gov] Comparative analysis with previous cases reveals a heterogeneous syndrome in which the micro-brachycephaly, the mongoloid slanted eyes with different anomalies, the micrognathia[ncbi.nlm.nih.gov] This gives the appearance of an upturned nose (upturned nasal tip).[rarediseases.oscar.ncsu.edu]

  • Renpenning Syndrome

    , cupped ears, and short philtrum.[mendelian.co] Multiple limb and genital abnormalities with short stature, hypertelorism, downslanting palpebral fissures, anteverted nostrils joint laxity, shawl scrotum, and occasional[icd10data.com] From Wikidata Jump to navigation Jump to search intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes[wikidata.org]

  • Carpenter-Waziri Syndrome

    (prominent lips, bushy eyebrows, widely-spaced teeth, and a broad and depressed nasal bridge with a wide nasal tip), brachydactyly with widening of the distal phalanges, short[orpha.net] Craniofacial abnormalities include microcephaly, hypertelorism, epicanthus, a small triangular upturned nose, and flat face.[egl-eurofins.com] Li-Fraumeni syndrome Monomelic amyotrophy Papilloma of choroid plexus Precursor B-cell acute lymphoblastic leukemia Severe combined immunodeficiency due to DNA-PKcs deficiency Short[csbg.cnb.csic.es]

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