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147 Possible Causes for Congenital Mandibular Hypoplasia, Microphthalmos

  • Patau Syndrome

    Please log in to edit this article. Edit Synonym: Trisomy 13, Bartholin-Patau-Syndrome German : Trisomie 13, Pätau-Syndrom 1 Definition The Patau syndrome, also known as trisomy 13, is a malformation syndrome that is caused by a numerical chromosome aberration. A separation error during the meiosis leads to there[…][flexikon.doccheck.com]

  • Hallermann-Streiff Syndrome

    The microphthalmos had overlapping posterior segment findings usually reported with Nanophthalmos and Posterior microphthalmos.[ncbi.nlm.nih.gov] Hallermann in 1948 and Streiff in 1950 described patients characterised by "bird face", congenital cataract, mandibular hypoplasia, and dental abnormalities.[ncbi.nlm.nih.gov] All patients had a microcornea and microphthalmos. Three patients had a membranous cataract.[ncbi.nlm.nih.gov]

  • Pierre Robin Syndrome

    Most PRS conditions are either micrognathic or retrognathic. [22] In velocardiofacial syndrome, the mandible is retrognathic.[emedicine.com] The glossoptosis and micrognathism generally do not require surgery, as they improve to some extent unaided, though the mandibular arch remains significantly smaller than[en.wikipedia.org] Micrognathism is a condition where the jaw is undersized.[en.wikipedia.org]

  • Congenital Muscular Dystrophy

    […] abnormalities such as crossed eyes (strabismus), cataracts, nearsightedness (myopia), abnormal eye movements, and, in severe cases, retinal detachment and abnormally small eyes (microphthalmos[rarediseases.org] […] detachment have been reported in a high number of patients accompanied or not by other ophthalmological alterations such as abnormal eye movements, strabismus, myopia and microphthalmos[doi.org]

  • Stickler Syndrome

    […] disabilities) 759.89 Marchesani (-Weill) syndrome (brachymorphism and ectopia lentis) 759.89 Meyer-Schwickerath and Weyers syndrome (dysplasia oculodentodigitalis) 759.89 Microphthalmos[icd9data.com] Stickler syndrome may be revealed at birth (25% of cases) by a combination of cleft palate, retrognathism, and micrognathism known as Pierre Robin sequence, which may cause[ncbi.nlm.nih.gov] The Pierre-Robin Syndrome (PRS) is a rare congenital abnormality, with an approximately 1/30,000 estimated rate, characterized by the presence of the combination of mandibular[ncbi.nlm.nih.gov]

  • Goldenhar Syndrome

    […] orbit 2016 2017 2018 2019 Non-Billable/Non-Specific Code Type 1 Excludes cryptophthalmos NOS ( Q11.2 ) cryptophthalmos syndrome ( Q87.0 ) ICD-10-CM Diagnosis Code Q11.2 Microphthalmos[icd10data.com] The oculo-auriculo-vertebral spectrum (OAVS) is a non-random association of microtia, hemifacial microsomia with mandibular hypoplasia, ocular epibulbar dermoid, and cervical[ncbi.nlm.nih.gov] Subsequent case descriptions of the syndrome have shown an association with conditions such as coloboma of the upper eye, microphthalmos, microcornea, coloboma of the uvea[healio.com]

  • Seckel Syndrome

    […] disabilities) 759.89 Marchesani (-Weill) syndrome (brachymorphism and ectopia lentis) 759.89 Meyer-Schwickerath and Weyers syndrome (dysplasia oculodentodigitalis) 759.89 Microphthalmos[icd9data.com] […] retardation. bird-headed dwarfism A popular term for Seckel syndrome, an autosomal recessive condition characterised by growth and mental retardation, a beak-like nose, micrognathism[medical-dictionary.thefreedictionary.com] [nano- G. melos, limb] nanometer (nm) (nan-om′e-ter) One-billionth of a meter (10 9 m). nanophthalmia, nanophthalmos (nan-of-thal′me-a, -mos) SYN: microphthalmos.[theodora.com]

  • Meckel Syndrome

    Cryptophthalmos, clinical anophthalmia, and microphthalmos with sclerocornea and microcornea have been reported.[disorders.eyes.arizona.edu] Meckel-Gruber syndrome, characterized by occipital encephalocele, microcephaly, polydactyly, cleft lip or palate, mandibular micrognathism, and anatomical abnormality of the[ncbi.nlm.nih.gov] M Warburg, Classification of microphthalmos and coloboma., Journal of Medical Genetics, 10.1136/jmg.30.8.664, 30, 8, (664-669), (1993). H.M. Ramadani and H.A.[doi.org]

  • Mandibulofacial Dysostosis

    Other ocular findings that may be seen in Goldenhar syndrome include dermolipoma, coloboma of the iris and upper lid, microphthalmos, disturbances in ocular motility, ptosis[eyewiki.aao.org] MFDGA is characterized by malar and mandibular hypoplasia, microcephaly, developmental delay, dysplastic ears, and a distinctive facial appearance.[ncbi.nlm.nih.gov] Mandibulofacial dysostosis with microcephaly (MFDM) is characterized by malar and mandibular hypoplasia; microcephaly ( congenital or postnatal onset); malformations of the[ncbi.nlm.nih.gov]

  • Syndromic Microphthalmia Type 10

    Diagnosis Code Q11.2 ICD-10: Q11.2 Short Description: Microphthalmos Long Description: Microphthalmos This is the 2019 version of the ICD-10-CM diagnosis code Q11.2 Valid[icdlist.com] […] onset Macrotia Cerebellar hypoplasia Upslanted palpebral fissure Cerebral cortical atrophy Posteriorly rotated ears Absent speech Oxycephaly Prominent forehead Gait ataxia[mendelian.co] […] anomaly Microphthalmos associated with other anomalies of eye and/or adnexa Microphthalmos of bilateral eyes Microphthalmos of left eye Microphthalmos of right eye Right[icd10data.com]

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