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535 Possible Causes for Retrognathia, Short Neck, Short Nose

  • Rudiger's Syndrome

    neck, and limb defects affecting the central ray of the hands and feet, compatible with ectrodactyly.[redalyc.org] […] physi- cal examination, it was verified the presence of: bilateral cleft lip and complete cleft palate (involving hard and soft palate), micrognathia, abnormal low-set ears, short[redalyc.org]

  • Schinzel-Giedion Syndrome

    […] toes [ more ] 0001845 Pulmonary hypoplasia Small lung Underdeveloped lung [ more ] 0002089 Respiratory distress Breathing difficulties Difficulty breathing [ more ] 0002098 Retrognathia[rarediseases.info.nih.gov] nose low nasal bridge anteverted nares macroglossia short neck atrial septal defect choanal stenosis hypoplastic first ribs broad ribs long clavicles short sternum hypoplastic[humpath.com] , and a short neck.[ncbi.nlm.nih.gov]

  • Jacobsen Syndrome

    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[jhu.pure.elsevier.com] ., microbrachycephaly, short nose with a low, depressed nasal bridge, microretrognathism, low-set ears), ocular abnormalities, a short neck, pancytopenia, and congenital heart[accessanesthesiology.mhmedical.com] A woman with psychomotor developmental delay, congenital glaucoma, and distinctive facial features, and a short neck was diagnosed with Jacobsen syndrome (JBS) at age 40 years[ncbi.nlm.nih.gov]

  • Robinow-Like Syndrome

    […] ears Low set ears Lowset ears [ more ] 0000369 Nail dysplasia Atypical nail growth 0002164 Narrow palate Narrow roof of mouth 0000189 Oral cleft Cleft of the mouth 0000202 Retrognathia[rarediseases.info.nih.gov] Symptoms of Robinow syndrome Permanent signs of the disease are: microcephaly; broad nasal bridge; prominent forehead; short nose, inverted front nostril; mouth triangular[health-and-beaty.blogspot.com] […] upper portion of limb 0008905 Short neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short stature Decreased body[rarediseases.info.nih.gov]

  • Trisomy 12p

    Intellectual impairment (moderate-severe), microcephaly, facial dysmorphism (narrow long face, retrognathia, short neck), cardiac (pulmonary stenosis) and ocular abnormalities[epilepsydiagnosis.org] His phenotype was similar to that of the "trisomy 12p syndrome", characterized by developmental delays and craniofacial abnormalities including a high forehead, a short nose[canceropole-est.org] The chin is set back (retrognathia) but in a few cases, in older individuals, the chin is prominent. There may be a large tongue (macroglossia).[rarediseases.org]

  • Spondylocarpotarsal Synostosis

    The craniofacial features were, prominent eyes, hypertelorism, facial asymmetry, retrognathia, coarse and thick scalp hair, ptyrigium colli, (more marked on the right side[scoliosisjournal.biomedcentral.com] nose with anteverted nares and broad Square nasal tip enamel hypoplasia Growth Short stature Hearing Preauricular skin tag Sensorineural or mixed hearing loss Limbs Abnormality[datagenno.com] 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]

  • Freeman-Sheldon Syndrome

    Patient had retrognathia with pouting of lips [Figure 1], microstomia, ulnar deviation of fingers, bilateral congenital talipes equinovarus and knee dislocation.[ijaweb.org] Other facial features may include a prominent forehead and brow ridges, a short nose and area between the nose and mouth, widely spaced eyes (hypertelorism), a narrowing of[rarediseases.info.nih.gov] Persons with FSS may also have a short neck that doesn't move well and has extra skin giving a 'webbed' appearance.[fsrgroup.org]

  • Baraitser-Winter Syndrome 1

    There is retrognathia, a pointed chin, a wide mouth with downturned corners and an everted lower lip, which may be secondary to retrognathia (17/39–44%).[ncbi.nlm.nih.gov] In a recent review of 42 cases, the phenotypic spectrum has broadened including high-arched eyebrows, short upturned nose tip, long philtrum, cleft lip and palate, abnormally[bioportfolio.com] In addition, the phenotype includes dwarfism with short neck and heart malformations.[pediatricneurosciences.com]

  • Crouzon Syndrome

    […] intubated the trachea using airway exchange catheter inserted through LMA Fastrach. [10] Our patient had history and features suggestive of difficult airway (high-arched palate, retrognathia[aeronline.org] Wide-set, bulging eyes caused by shallow eye sockets Eyes that do not point in the same direction (strabismus) A short nose An underdeveloped upper jaw causing a flat appearance[childrens.com] Patient had short neck and difficulty in turning his neck on both right and left sides.[omicsonline.org]

  • Pallister-Killian Syndrome

    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] nose with upturned nares, large mouth with downturned corners and prominent upper lip.[orpha.net] 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]

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