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134 Possible Causes for Corneal Opacity, Hypoplastic Toenails

  • Winchester Syndrome

    […] fifth fingernails and toenails , see Coffin-Siris syndrome mental retardation with hypotonia and facial dysmorphism , see KCNK9 imprinting syndrome Mental retardation with[herenciageneticayenfermedad.blogspot.com] The syndrome is characterized by short stature, coarse face, corneal opacities, generalized osteolysis and progressive painful arthropathy with joint stiffness and contractures[ncbi.nlm.nih.gov] Abstract The Winchester syndrome, a rare inherited disorder, is characterized by dwarfism, carpal-tarsal osteolysis, rheumatoid-like small joint destruction, corneal opacities[ncbi.nlm.nih.gov]

  • Zellweger Syndrome

    We report here on a Turkish patient who presented with unusual clinical findings, that included non-immune hydrops, dermal erythropoiesis and hypoplastic toenails, as well[ncbi.nlm.nih.gov] opacity 0007957 Death in infancy Infantile death Lethal in infancy [ more ] 0001522 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge[rarediseases.info.nih.gov] opacities), degeneration of the nerve that carries visual images from the eye to the brain (optic atrophy), and rapid, involuntary eye movements (nystagmus).[rarediseases.org]

  • Turner Syndrome

    toenails Underdeveloped toenails 0001800 Impaired use of nonverbal behaviors Impaired use of nonverbal behaviours 0000758 Irregular proximal tibial epiphyses Irregular innermost[rarediseases.info.nih.gov] 0001397 High, narrow palate Narrow, high-arched roof of mouth Narrow, highly arched roof of mouth [ more ] 0002705 Hypermobility of toe joints 0010510 Hypertension 0000822 Hypoplastic[rarediseases.info.nih.gov]

  • Cerebellotrigeminal Dermal Dysplasia

    toenails Ectropion Cafe-au-lait spot Sacral dimple Absent thumb Short thumb Omphalocele Short phalanx of finger Sparse scalp hair Confusion Oral cleft Talipes Toe syndactyly[mendelian.co] The hallmark triad of GLHS, also named cerebellotrigeminal dermal dysplasia, consists of rhombencephalosynapsis, trigeminal anesthesia (often giving rise to corneal opacities[ncbi.nlm.nih.gov] Other features include craniosynostosis, short stature, hypertelorism, down-slanting palpebral fissures, corneal opacities, mediofacial hypoplasia, and turri-brachycephaly[ncbi.nlm.nih.gov]

  • Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum

    […] fifth fingernails and toenails see Coffin-Siris syndrome Mental retardation with osteocartilaginous abnormalities see Coffin-Lowry syndrome mental retardation, X-linked,[herenciageneticayenfermedad.blogspot.com] Other features of MONA can include clouding of the clear front covering of the eye (corneal opacity), excess hair growth (hypertrichosis), overgrowth of the gums, heart abnormalities[ncbi.nlm.nih.gov] Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported.[malacards.org]

  • Oculo-Osteo-Cutaneous Syndrome

    […] or absent fifth fingernails or toenails.[mendelian.co] opacity * Cleft lip palate oligodontia syndactyly pili torti * Cleft lip palate pituitary deficiency * Cleft lip palate-tetraphocomelia * Cleft lower lip cleft lateral canthi[medicalgeek.com] Cleft lip and/or palate with mucous cysts of lower Cleft lip palate abnormal thumbs microcephaly Cleft lip palate dysmorphism Kumar type Cleft lip palate mental retardation corneal[rarediseases.annualcongress.com]

  • Hypohidrotic Ectodermal Dysplasia

    toenails 60 33 hallmark (90%) Very frequent (99-80%) HP:0001800 4 abnormality of the fingernails 60 33 hallmark (90%) Very frequent (99-80%) HP:0001231 5 abnormality of dental[malacards.org] Clinical features: Heterochromia, aniridia, coloboma of the iris and persistent papillary membrane, corneal opacities.[vivavoceoralmedicineradiology.com] opacity Congenital cataract-deafness-severe developmental delay syndrome Congenital cataract-hearing loss-severe developmental delay syndrome Congenital cataracts - facial[csbg.cnb.csic.es]

  • BOD Syndrome

    toenails Underdeveloped toenails 0001800 Long philtrum 0000343 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head[rarediseases.info.nih.gov] opacity Recurrent upper respiratory tract infections Mucopolysacchariduria Asymmetric septal hypertrophy Craniofacial hyperostosis Abnormality of the clavicle Growth abnormality[mendelian.co] Brachydactyly Delayed skeletal maturation Fingernail dysplasia Hypoplastic fifth fingernail Hypoplastic toenails Long philtrum Microcephaly Short distal phalanx of toe Toenail[dovemed.com]

  • Hirschsprung Disease Type D-Brachydactyly Syndrome

    Related phenotypes are aganglionic megacolon and aplastic/hypoplastic toenail Description from OMIM: 306980[malacards.org] […] the caudate nucleus Hemifacial atrophy progressive Hemifacial hyperplasia strabismus Hemifacial microsomia Hemihypertrophy in context of NF Hemihypertrophy intestinal web corneal[wikidoc.org] Showing of 8 80%-99% of people have these symptoms Aganglionic megacolon Enlarged colon lacking nerve cells 0002251 Aplastic/hypoplastic toenail Absent/small toenails Absent[rarediseases.info.nih.gov]

  • Acrocephalopolysyndactyly

    , absent/hypoplastic patella, defects of head of radius and iliac horns, and iris discoloration nephrotic syndrome peripheral oedema, albuminuria, reduced plasma albumin ([medical-dictionary.thefreedictionary.com] opacity microcornea optic atrophy lateral displacement of medial canthi flat nasal bridge high-arched palate missing teeth delayed loss of deciduous teeth short muscular[humpath.com] Other reported abnormalities are nystagmus, foveal hypoplasia, corneal malformations including microcornea, corneal opacity, and mild optic atrophy and features of pseudopapilledema[disorders.eyes.arizona.edu]

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