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346 Possible Causes for Round Face, short, Upturned Nose

  • Aarskog-Scott Syndrome

    5th finger Short fifth finger Short fifth fingers Short little finger Short pinkie finger Short pinky finger [ more ] 0009237 Short nose Decreased length of nose Shortened[rarediseases.info.nih.gov] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[ncbi.nlm.nih.gov] face with widow's peak and, in one of them, ptosis of the eyelids.[ncbi.nlm.nih.gov]

  • 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]

  • Trisomy 12p

    A now 19 months old girl with trisomy of the short arm of chromosome 12 associated with a partial small deletion of the short arm of the chromosome 4 is reported.[moh-it.pure.elsevier.com] 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] nostrils and an everted lower lip.[canceropole-est.org]

  • Spondylocarpotarsal Synostosis

    The patient's father has mild short stature and unilateral hip dysplasia.[ncbi.nlm.nih.gov] Broad, 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[rarediseases.info.nih.gov] A mild facial dysmorphism with a round face with frontal bossing and anteverted nostrils.[orpha.net]

  • Zellweger Syndrome

    […] congenital anomalies and mental retardation syndrome with characteristic facial appearance, skeletal abnormalities, dermatoglyphic abnormalities, mental retardation and short[ncbi.nlm.nih.gov] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club[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]

  • 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] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Scoliosis Abnormal curving of the spine 0002650 Short palm 0004279 Short phalanx of finger[rarediseases.info.nih.gov] 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]

  • Geleophysic Dysplasia

    , short hands and feet and skin thickening.[karger.com] Showing of 36 Percent of people who have these symptoms is not available through HPO Anteverted nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils[rarediseases.info.nih.gov] face with full cheeks.[ncbi.nlm.nih.gov]

  • Chromosome 18p Deletion Syndrome

    Department of Pedodontics, VSPM Dental College, Nagpur, Maharastra Department of Prasthodontics, Rajas Dental College, Tirunelveli, Tamil Nadu ABSTRACT: Deletion of the short[kns.cnki.net] […] symptoms listed below: * Growth retardation * Mental retardation * Reduced muscle tone * Small head * Drooping eyelids * Epicanthal folds * Low nasal bridge * Wide-set eyes * Round[checkorphan.org] Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Autosomal dominant inheritance 0000006 Clinodactyly Permanent curving of the finger 0030084 Cryptorchidism[rarediseases.info.nih.gov]

  • Kniest Dysplasia

    Families with skeletal dysplasias or short stature of known or suspected genetic basis will be enrolled.[clinicaltrials.gov] The girl had a dysmorphic flat face with hypertelorism, a small nose with a depressed nasal bridge, anteverted nostrils, down turned mouth corners and a thin upper lip.[raredisorders.imedpub.com] face Circular face Round facial appearance Round facial shape [ more ] 0000311 5%-29% of people have these symptoms Cataract Clouding of the lens of the eye Cloudy lens [[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] nose - Anteverted nostrils - Flat nasal bridge - Wide triangular mouth - long philtrum - Horizontal upper lip - Short palate - Misaligned teeth - Gum hypertrophy - Hypoplastic[ibis-birthdefects.org] Facial Abnormalities Rounded face with a broad forehead Widely spaced eyes (hypertelorism) Drooping of the eyelids (ptosis) Downwardly slanting eyelid folds Small nose with[medcaretips.com]

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