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48 Possible Causes for Congenital Eye Anomaly, Prominent High Nasal Root, Short Stature

  • Hallermann-Streiff Syndrome

    A case of a 29-year-old man with atypical HSS with neither cataracts, hair and skin alterations, nor short stature is reported, with special consideration to oral findings[ncbi.nlm.nih.gov] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Pulmonary[rarediseases.info.nih.gov] Hallermann-Streiff syndrome is a rare congenital disorder characterized as a complex association of developmental anomalies involving structures of ectodermal origin (the[ncbi.nlm.nih.gov]

  • Schwartz-Jampel Syndrome

    The main clinical features of this syndrome include generalized myotonic myopathy, skeletal dysplasia, blepharophimosis, microstomia, contracture of joints and short stature[ncbi.nlm.nih.gov] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Ptosis[rarediseases.info.nih.gov] We report a female infant, born at 30 weeks of gestation, who exhibited generalized myotonia, facial dysmorphism, blepharophimosis, and short stature at birth.[ncbi.nlm.nih.gov]

  • Chudley-Rozdilsky Syndrome

    Homepage Rare diseases Search Search for a rare disease Intellectual disability-myopathy-short stature-endocrine defect syndrome Disease definition Intellectual disability-myopathy-short[orpha.net] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Protruding[rarediseases.info.nih.gov] […] contractures Congenital craniosynostosis maternal hyperthyroiditis Congenital cystic eye Congenital cystic eye multiple ocular and intracranial anomalies Congenital cytomegalovirus[personalizedcause.com]

  • Congenital Cataract

    Cataracts, Growth Hormone Deficiency, and Skeletal Dysplasia Clinical Characteristics Ocular Features: Lens opacities can be seen in infancy or childhood and may be congenital[disorders.eyes.arizona.edu] We present a Hungarian girl with microcephaly, microphthalmia, congenital cataract, prominent nasal root, peaked nose, micrognathia with high arched palate, mild mental retardation[ncbi.nlm.nih.gov] Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, FKRP-Related MDDGA5 613153[ukgtn.nhs.uk]

  • Baller-Gerold Syndrome

    In the second family, the affected male had craniosynostosis, radial ray defect, poikiloderma, and short stature. He had a homozygous splice site mutation (IVS17-2A C).[ncbi.nlm.nih.gov] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Scoliosis[rarediseases.info.nih.gov] New Tests Hydrocephalus, Congenital 2 with or without Brain or Eye Anomalies via MPDZ Gene Sequencing with CNV Detection ( #12013 ) Pediatric Cancer Sequencing Panel with[preventiongenetics.com]

  • Renpenning Syndrome 1

    From Wikidata Jump to navigation Jump to search intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes[wikidata.org] He shows large, low-set ears, high nasal root, micrognathia, long philtrum, and prominent metopic suture.[doi.org] (congenital with brain and eye anomalies), type A, 2 POMT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 FKRP Myotonia congenita[ceifer.com]

  • Rigid Spine Syndrome

    stature Decreased body height Small stature [ more ] 0004322 Type 1 and type 2 muscle fiber minicore regions 0003787 Showing of 42 Last updated: 6/1/2019 The resources below[rarediseases.info.nih.gov] Associated distinctive features are dolicocephaly, prominent nasal root, oblique palpebral fissues, high-arched palate, low-set ears, short neck, and clinodactyly.[ncbi.nlm.nih.gov] It has been emphasized that at autopsy of affected fetuses demonstrable muscle changes may not be observed, while brain and eye anomalies are clearly demonstrated197.[cyberleninka.org]

  • Noonan Syndrome

    […] signalling pathways involved in short stature.[doi.org] The triangular facial features become even sharper in teenagers and young adults, with a pinched root and a thin, high bridge on the nose.[touchendocrinology.com] […] examination in infancy and/or at diagnosis — Eye reevaluation as indicated if abnormal or every two years thereafter Pregnancy Congenital heart defects, effusion, hydrops[aafp.org]

  • Raine Syndrome

    Our patient had the common craniofacial features as well as, uncommon features such as protruding tongue, short stature, and hypoplastic distal phalanges.[ncbi.nlm.nih.gov] Case 2: brachycephaly, bilateral epicanthal folds, midface and nasal root hypoplasia with absence of nasal crest and micrognathia.[bmcmedgenet.biomedcentral.com] (congenital with brain and eye anomalies), type A, 2 613150 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156 Muscular dystrophy-dystroglycanopathy[institutobernabeu.com]

  • Nager Syndrome

    Short stature, aplasia /hypoplasia of the radius Homozygous or compound heterozygous mutation in the RECQL4 Cornelia de Lange syndrome (OMIM# 122470) Facial defects, growth[gynecology-obstetrics.imedpub.com] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Radial[rarediseases.info.nih.gov] Nager acrofacial dysostosis is a genetic congenital anomaly syndrome.[en.wikipedia.org]

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