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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.[] It was revealed also high-grade microphthalmos in the left ocular globe with persistent primary vitreous and retinal detachment distal.[] […] sternum [ more ] 0006714 Aplasia/Hypoplasia of the thumb Absent/small thumb Absent/underdeveloped thumb [ more ] 0009601 Autosomal recessive inheritance 0000007 Bilateral microphthalmos[]

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

  • CHARGE Syndrome

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

  • 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[] 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[]

  • 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[] Cryptophthalmos, clinical anophthalmia, and microphthalmos with sclerocornea and microcornea have been reported.[] Apparent male genitalia with bilateral undescended testes, a microphallus, proximal hypospadias or distal or mid-shaft hypospadias with undescended testis.[]

  • 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[]

  • 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[] […] ear Progressive hearing impairment Retinal detachment Vesicoureteral reflux Low-set, posteriorly rotated ears Bimanual synkinesia Ichthyosis Hypotrichosis Prostate cancer Microphallus[] 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[]

  • 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[] This case represents the rare association of septo-optic dysplasia with complex microphthalmos.[] […] conditions such as: Aqueductal stenosis Kallmann’s syndrome Chiari II malformation Lobar holoprosencephaly Rhomboencephalosynapsis Dysgenesis of corpus callosum Dysgenesis of the microphthalmos[]

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

  • 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[] In most patients, the eye on the affected side or sides is also abnormally small (microphthalmos).[] Eye abnormalities characteristically involve the posterior chamber, with microphthalmos as the late end-stage result.[]

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