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505 Possible Causes for Short, Upturned Nose

  • Aarskog 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] The major facial manifestations of this syndrome include hypertelorism, broad forehead, broad nasal bridge, short nose with anteverted nostrils, long philtrum, widow's peak[ncbi.nlm.nih.gov] Aarskog-Scott syndrome: A syndrome of wide spaced eyes (ocular hypertelorism), front-facing (anteverted) nostrils, a broad upper lip, a malformed ("saddle-bag") scrotum, and[medicinenet.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] 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] 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]

  • Spondylocarpotarsal Synostosis

    We report on an 11-year-old boy with thoracolumbar fusion, carpal synostosis, short stature, scoliosis, lordosis, defective dentition, and recurrent otitis media consistent[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] There is a disproportionately short trunk. Some patients have a unilateral unsegmented bar.[ncbi.nlm.nih.gov]

  • 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] 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] Soft hands with short, tapered fingers are also characteristic of Coffin-Lowry syndrome.[ghr.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] nostrils small and apparently low-set ears simian crease clinodactyly congenital heart disease : may be seen in up to 25% of cases 4 congenital diaphragmatic hernia : may[radiopaedia.org]

  • 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] All the patients had cardinal features of this condition, such as short stature, frontal bossing, hypertelorism, short upturned nose with anteverted nares, micrognathia, mesomelic[ncbi.nlm.nih.gov] short stature ( Q77.4 ) hypochondroplastic short stature ( Q77.4 ) nutritional short stature ( E45 ) pituitary short stature ( E23.0 ) progeria ( E34.8 ) renal short stature[icd10data.com]

  • Mucopolysaccharidosis 1H

    However, its prevalence and optimal management is not yet clear because of the rarity of the disease and the prior short life span of these patients.[ncbi.nlm.nih.gov] nostrils, full cheeks and enlarged lips), cardiomyopathy and valvular abnormalities, neurosensorial hearing loss, enlarged tonsils and adenoids, and nasal secretion.[orpha.net] 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]

  • Spondyloepiphyseal Dysplasia, Cantu Type

    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] A person with SED-BDS will be shorter than most other people and will have short hands and feet. SED-BDS will cause someone to have a coarse voice.[crm.diseaseinfosearch.org]

  • 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] Clinical signs such as short stature, characteristic facial features (hypertelorism, midface hypoplasia, large nasal bridge, short upturned nose, and anteverted nares), mesomelic[orpha.net] […] hard palate 0010290 Short middle phalanx of the 5th finger Short middle bone of the little finger Short middle bone of the pinkie finger Short middle bone of the pinky finger[rarediseases.info.nih.gov]

  • Costello Syndrome

    […] facial dysmorphia, hyperpigmented skin, palmar and plantar hyperkeratosis, curly hair, perioral and nasal papillomata (more rarely localized anally and on vocal cords), short[ncbi.nlm.nih.gov] Fewer individuals with p.G13C had short stature (height below -2 SD) without use of growth hormone (P 0.001).[ncbi.nlm.nih.gov] It affects multiple organ systems and includes severe failure-to-thrive, short stature, and macrocephaly.[ncbi.nlm.nih.gov]

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