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598 Possible Causes for Cataract, Retrognathia, Short Neck

  • Kniest Dysplasia

    The mandibular retrognathia was pronounced at an early age but improved with growth. At age 11 years the patient had a straight facial skeletal profile.[ncbi.nlm.nih.gov] Manifestations included neonatal respiratory distress, large head, midface hypoplasia, flat nasal bridge, short nose, micrognathia, cleft palate, short neck, micromelia, and[ncbi.nlm.nih.gov] The cataract could also develop as a posteriorcapsular opacity and progress to a total cataract.[jamanetwork.com]

  • Turner Syndrome

    [ more ] 0000347 Neck pterygia 0009759 Obesity Having too much body fat 0001513 Primary amenorrhea 0000786 Recurrent otitis media Recurrent middle ear infection 0000403 Retrognathia[rarediseases.info.nih.gov] They are at risk for health difficulties such as high blood pressure, kidney problems, diabetes, cataracts, osteoporosis, and thyroid problems.[medlineplus.gov] A 16-year-old girl was referred to our hospital with chief complaint of short stature. She presented with round chubby facies, short neck, obesity and short stature.[ncbi.nlm.nih.gov]

  • 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] Patient had short neck and difficulty in turning his neck on both right and left sides.[omicsonline.org] Other associations are aniridia, blue sclera, cataract, coloboma, ectopia lentis and optic nerve hypoplasia. No medical treatment exists for craniosynostosis.[casereports.bmj.com]

  • Rudiger's Syndrome

    Hereditary congenital spinocerebellar ataxia accompanied by congenital cataract and oligophrenia.[ajnr.org] neck, and limb defects affecting the central ray of the hands and feet, compatible with ectrodactyly.[redalyc.org] MSS shows a genetic identity with the congenital cataract facial dysmorphism neuropathy (CCFDN) syndrome ( 9 ).[ajnr.org]

  • Trisomy 12p

    Intellectual impairment (moderate-severe), microcephaly, facial dysmorphism (narrow long face, retrognathia, short neck), cardiac (pulmonary stenosis) and ocular abnormalities[epilepsydiagnosis.org] @article{Liu2012ANP, title {A new partial trisomy 12p with artery catheter vagus, congenital cataracts, external auditory canal, and no turbinate.}, author {Yan-Hui Liu and[semanticscholar.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]

  • 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] Some children will develop cataracts. Because some children with Jacobsen syndrome are immunodeficient, they may be much more susceptible to infections.[healthline.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]

  • Noonan Syndrome

    Apparent ocular hypertelorism and antimongoloid slant of the palpebral fissures, a deep philtrum, and mild retrognathia may also be present.[touchendocrinology.com] He underwent an eye examination after complaining of decreased visual acuity in the right eye and was diagnosed with mature cataract, which was treated by cataract surgery[ncbi.nlm.nih.gov] Clinical phenotype (facial dysmorphism, soft hair, short neck, broad chest, widely spaced nipples, mild pectus carinatum, deep palmar creases, unilateral cryptorchidism),[ncbi.nlm.nih.gov]

  • Trisomy 4p

    […] share an overlapping phenotypic expression that constitutes pure trisomy 4p syndrome which includes prominent glabella, bulbous nose with flat or depressed nasal bridge, retrognathia[ncbi.nlm.nih.gov] […] asymmetric eyes, small ears, a short neck, finger/toe abnormalities, and behavioral problems.[ncbi.nlm.nih.gov] In the current case, the patient recovered some useful vision after surgical removal of cataracts and intraocular lens implantations in both eyes.[ncbi.nlm.nih.gov]

  • 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] , and a short neck.[ncbi.nlm.nih.gov] Top matches: Low match PRIMROSE SYNDROME; PRIMS Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized[mendelian.co]

  • Goldberg-Shprintzen Syndrome

    […] prominent forehead Ocular proptosis Widely spaced eyes Downslanted palpebral fissures Malar flattening High narrow palate with prominent palatine ridges Micrognathia and/or retrognathia[ncbi.nlm.nih.gov] Additional dysmorphic features may include maxillary hypoplasia, hypodontia, high arched palate, short neck, small hands, brachydactyly, fifth finger clinodactyly, fetal finger[orpha.net] However, optic nerve atrophyor aplasia, RPE atrophy, microphthalmia, ptosis, and cataracts are sometimes present while strabismus is more common.[disorders.eyes.arizona.edu]

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