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738 Possible Causes for Coloboma, Ear Deformity

  • Mandibulofacial Dysostosis

    These were correlated with induced ear deformities in an animal model that had features characteristic of human mandibulofacial dysostosis.[ncbi.nlm.nih.gov] We describe a patient with a phenotype characterized by mandibulofacial dysostosis with severe lower eyelid coloboma, cleft palate, abnormal ears, alopecia, delayed eruption[ncbi.nlm.nih.gov] The most important manifestations of this syndrome are hypoplastic or absent malar bone, centrofacial over-projection, eyelid coloboma, and micrognathia.[ncbi.nlm.nih.gov]

  • Fraser Syndrome

    Some of the most common ones are middle and outer ear deformities, partial fusion of the fingers and toes (syndactyly), complete fusion of the eyelids (cryptophthalmos) and[symptoma.com] […] beginning in the third week of life, by dissecting the eyelids from the cornea, reconstructing the conjunctival fornices with buccal mucosa, and repairing the upper lid coloboma[ncbi.nlm.nih.gov] Lop-ear deformity. 3. Preauricular pits. 4. Preauricular tags. 5. External auditory canal: stenosis 6.[medicine.uiowa.edu]

  • Congenital Contractural Arachnodactyly

    […] aortic root dilatation may also be observed in some patients. 20% of patients with CCA present with ophthalmological problems, such as heterotopia, ectopia lentis, partial coloboma[symptoma.com] " deformity.[ncbi.nlm.nih.gov] Affected individuals may have contractures, chest wall deformities, scoliosis, abnormal ear folding and elongated limbs.[ncbi.nlm.nih.gov]

  • Trisomy 18

    Other signs include: Hole, split, or cleft in the iris of the eye ( coloboma ) Separation between the left and right side of the abdominal muscle ( diastasis recti ) Umbilical[nicklauschildrens.org] […] as low-set and malformed ears, cleft lip and palate, a receding chin, convex soles of the feet, a webbed neck, and fingers bent in a unique configuration.[britannica.com] […] microcephaly) Small jaw (micrognathia) Underdeveloped fingernails Undescended testicle Unusual shaped chest ( pectus carinatum ) Other signs include eye abnormalities including coloboma[medpagetoday.com]

  • Cat Eye Syndrome

    deformity.[ncbi.nlm.nih.gov] A coloboma can occur in one eye (unilateral) or both eyes (bilateral). Most cases of coloboma affect only the iris.[tywkiwdbi.blogspot.com] Fewer than 1 person in 10,000 are born with bilateral colobomas, known as " cat eye syndrome ."[boingboing.net]

  • Blepharophimosis

    High arched palate and lop ear deformity was seen in 2 cases. The ptosis was of quite severe degree in most of the cases and the L.P.S. action was poor.[ijo.in] We present a case of blepharophimosis syndrome associated with bilateral optic disc, retinochoroidal and iris colobomas, and microphthalmos, in a Caucasian boy.[ncbi.nlm.nih.gov] Blepharophimosis symptoms include: Arched eyebrows; Cup shaped ears; Low and broad nasal bridge; Narrowing of the eye; Optic disc coloboma; Strabismus; Abnormalities of the[isitcurable.com]

  • Anophthalmos

    deformity, cyanotic heart disease, hemivertebrae, cataract and corneal opacity in the left eye.[ncbi.nlm.nih.gov] RESULTS: A total of 210 eyes (of 135 children) were affected by AMC, of which 153 had isolated coloboma or coloboma with microphthalmos.[researchonline.lshtm.ac.uk] ICD-10-CM Codes › Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities › Q10-Q18 Congenital malformations of eye, ear, face and neck › Q11- Anophthalmos[icd10data.com]

  • Ear Deformity

    Upper eyelid colobomas and ocular dermoids or lipdermoids are the primary ocular signs (lower lid colobomas are more common in Treacher Collins-Franceschetti syndrome [ 154500[disorders.eyes.arizona.edu] The common characteristics of the crumpled-ear deformity, the steps for surgical correction, and the authors' experience are described in this article.[ncbi.nlm.nih.gov] Cleft lobe (coloboma): longitudinal cleft of lobe which may be partial but usually extends to but not through , the incisura intertragica.[sonoworld.com]

  • Achondrogenesis, Type 1A

    Alar nasal cartilages coloboma of telecanthus[?] Albers-Schonberg disease[?] Albinism deafness syndrome[?] Albinism immunodeficiency[?][encyclopedia.kids.net.au] Associated malformations include urinary tract duplication, hydronephrosis , cleft palate, ear deformities, corneal clouding and blue sclera, anal atresia and aplastic testis[fetalultrasound.com] Amelia cleft lip palate hydrocephalus iris coloboma[?] Amelia facial dysmorphism[?] Amelia X linked[?] Amelogenesis Imperfecta hypomaturation type[?][encyclopedia.kids.net.au]

  • Ectopia Lentis

    Lens coloboma. Figure 2. Minimal lens coloboma. Source: Images: Narang P, Agarwal A Figure 3. Severe subluxation of the lens.[healio.com] " deformity.[ncbi.nlm.nih.gov] ICD-10-CM Codes › Q00-Q99 Congenital malformations, deformations and chromosomal abnormalities › Q10-Q18 Congenital malformations of eye, ear, face and neck › Q12- Congenital[icd10data.com]

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