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91 Possible Causes for Microphallus, Microphthalmos

  • Fraser Syndrome

    Computerized Tomography revealed left microphthalmos and a malformation like-coloboma into right ocular globe with cysts and a small calcification parietal anterior.[ncbi.nlm.nih.gov] It was revealed also high-grade microphthalmos in the left ocular globe with persistent primary vitreous and retinal detachment distal.[ijponline.biomedcentral.com] […] sternum [ more ] 0006714 Aplasia/Hypoplasia of the thumb Absent/small thumb Absent/underdeveloped thumb [ more ] 0009601 Autosomal recessive inheritance 0000007 Bilateral microphthalmos[rarediseases.info.nih.gov]

  • Laurence Moon 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] […] intellectual disabilities) 759.89 Marchesani (-Weill) (brachymorphism and ectopia lentis) 759.89 Menkes' 759.89 Meyer-Schwickerath and Weyers (dysplasia oculodentodigitalis) 759.89 microphthalmos[icd9data.com]

  • CHARGE Syndrome

    A case of autism with CHARGE syndrome with microphthalmos and a superior colobomatous cyst arising from the optic disc is reported.[ncbi.nlm.nih.gov] Abnormalities of genitalia in males include an underdeveloped penis (micropenis or microphallus) and testicles that fail to descend to the scrotum (cryptorchidism).[encyclopedia.com] Microphallus, penile agenesis, hypospadias, chordee, cryptorchidism, bifid scrotum, atresia of uterus, cervix and vagina, hypoplastic labia and clitoris are reported genital[doi.org]

  • Moebius 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] Q87.0 Acrocephalosyndactyly Q87.0 Aglossia-adactylia syndrome Q87.0 Apert's syndrome Q87.0 Carpenter's syndrome Q87.0 Cryptophthalmos Q11.2 ICD-10-CM Diagnosis Code Q11.2 Microphthalmos[icd10data.com]

  • Ambiguous Genitalia

    In this present study, we report a normal male karyotype manifesting microphallus, bifid scrotum/labia majora with bilateral palpable gonads, and a blind-ended pseudovagina[ncbi.nlm.nih.gov] Cryptophthalmos, clinical anophthalmia, and microphthalmos with sclerocornea and microcornea have been reported.[disorders.eyes.arizona.edu] Apparent male genitalia with bilateral undescended testes, a microphallus, proximal hypospadias or distal or mid-shaft hypospadias with undescended testis.[pedclerk.bsd.uchicago.edu]

  • Woodhouse Sakati Syndrome

    […] imperfecta type 3 Pyruvate kinase deficiency Familial thoracic aortic aneurysm and dissection Frank Ter Haar syndrome STAR syndrome Nablus mask-like facial syndrome Microcephaly microphthalmos[checkrare.com]

  • Coloboma

    Microcornea with microphthalmos had a worse prognosis than microcornea without microphthalmos (VA 3/60: 66.7% vs. 23.3%; unable to read N10: 66.7% vs. 34.1 %; no navigational[ncbi.nlm.nih.gov] […] ear Progressive hearing impairment Retinal detachment Vesicoureteral reflux Low-set, posteriorly rotated ears Bimanual synkinesia Ichthyosis Hypotrichosis Prostate cancer Microphallus[mendelian.co] In this paper we have investigated the prevalence of PAX2 mutations in patients with ocular colobomas, microphthalmos, or retinal anomalies, either in isolation or with associated[ncbi.nlm.nih.gov]

  • Septo-Optic Dysplasia

    SOD should be suspected in newborns with hypoglycemia, jaundice, microphallus (with or without undescended testes) and nystagmus with or without associated midline abnormalities[orpha.net] This case represents the rare association of septo-optic dysplasia with complex microphthalmos.[ncbi.nlm.nih.gov] […] conditions such as: Aqueductal stenosis Kallmann’s syndrome Chiari II malformation Lobar holoprosencephaly Rhomboencephalosynapsis Dysgenesis of corpus callosum Dysgenesis of the microphthalmos[hxbenefit.com]

  • Pallister-Hall 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] We report a case of Pallister-Hall syndrome with microphallus and without growth hormone deficiency that has been followed successfully for two years.[ncbi.nlm.nih.gov] Hypothyroidism, microphallus, and cryptorchidism have been reported also.[ajnr.org]

  • Microphthalmia with Linear Skin Defects Syndrome

    Transport Complex I, Exome, Female, Gene Knockdown Techniques, Genetic Diseases, X-Linked, HeLa Cells, Humans, Immunohistochemistry, Karyotyping, Magnetic Resonance Imaging, Microphthalmos[mrc-mbu.cam.ac.uk] In most patients, the eye on the affected side or sides is also abnormally small (microphthalmos).[rarediseases.org] Eye abnormalities characteristically involve the posterior chamber, with microphthalmos as the late end-stage result.[emedicine.medscape.com]

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