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508 Possible Causes for short, Short Neck, Upturned Nose

  • Spondylocarpotarsal Synostosis

    neck ; Short nose ; Talipes equinovarus ; Tarsal synostosis Associated Genes FLNB (Withdrawn symbols: ABP-278, FH1, FLN1L, LRS1, TABP, TAP ) Mouse Orthologs Flnb (Withdrawn[mousephenotype.org] We report on an 11-year-old boy with thoracolumbar fusion, carpal synostosis, short stature, scoliosis, lordosis, defective dentition, and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]

  • Pallister-Killian Syndrome

    Here, we report on an unusual case of i(12p) in a 15-year-old boy presenting with mild mental retardation, minor facial features (long face, prognathism, short neck), normal[ncbi.nlm.nih.gov] 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]

  • Spondyloepiphyseal Dysplasia, Cantu Type

    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] We propose that the SEDL locus lies on the distal part of the short arm of the X chromosome. PubMed[scholar.um5.ac.ma] 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]

  • 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] Others: Other features may include short neck, subluxation of vertebral bodies, thick and coarse body hair and thickened skin.[symptoma.com]

  • 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] His clinical findings were sparse, thin, and light-colored hair, bilateral ptosis, low-set ears, depressed nasal bridge, bulbous nose, short neck, loose pigmented skin with[ncbi.nlm.nih.gov] Of primary concern to anaesthesiologists are potential airway difficulties related a short neck, macroglossia, hypertrophied tonsillar and supraglottic tissues, laryngeal[ncbi.nlm.nih.gov]

  • Jacobsen Syndrome

    Our findings indicate that the short nose, otitis media, and hearing impairment in Jacobsen syndrome are likely because of hemizygosity for ETS1 and FLI1.[ncbi.nlm.nih.gov] They may have folding of the skin near the eye, a short, upturned nose or thin lips that curve inward. They may also have mild to severe intellectual disabilities.[content.achhabachha.com] Anesthetic issues related to the care of patients with JS concern airway management secondary to short neck, abnormal mouth shape and micrognathia/retrognathia, a high incidence[ncbi.nlm.nih.gov]

  • 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] Partial expression of the syndrome was confirmed in two of the three examined obligate female heterozygotes, who had short stature, small hands and feet, short neck, and a[ncbi.nlm.nih.gov] Keywords Internal Medicine Metabolic Disease Short Stature Short Neck Small Hand These keywords were added by machine and not by the authors.[link.springer.com]

  • Cold-Induced Sweating Syndrome Type 1

    […] facial appearance (see photos at bottom of page), as follows: Facial characteristics Rounded face in infancy Anteverted nares (upturned nose) Low-set ears Puckered chin Short[forgottendiseases.org] Baby had initial mild respiratory distress with tetaniform facial muscle contractions, increased salivation and short apneas.[saudijhealthsci.org] Familial cold autoinflammatory syndrome (FCAS, MIM 120100) is a genetic periodic fever syndrome that presents with recurrent short episodes of fever , urticaria -like skin[dermnetnz.org]

  • Hypertrichotic Osteochondrodysplasia

    The female patient had a short neck, narrow thorax, and generalized hypertrichosis.[genome.jp] 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[mendelian.co] Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Broad hallux phalanx Broad bone of big toe Wide bone of big toe [ more ] 0010059 Broad ribs Wide ribs[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] Intellectual impairment (moderate-severe), microcephaly, facial dysmorphism (narrow long face, retrognathia, short neck), cardiac (pulmonary stenosis) and ocular abnormalities[epilepsydiagnosis.org]

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