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41 Possible Causes for Congenital Eye Anomaly, Craniosynostosis, Prominent High Nasal Root

  • Hallermann-Streiff Syndrome

    […] syndrome Craniosynostosis, complex Craniosynostosis, simple Crouzon syndrome Deformity of skull or facial bones, congenital Delayed closure of anterior fontanel Forehead[icd9data.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 Pulmonary[rarediseases.info.nih.gov] Brachycephaly is also a typical feature, but this cannot be determined from the painting. (2) Congenital anomalies of the eyes seen in La Niña include microphthalmia, microcornea[healio.com]

  • Chudley-Rozdilsky Syndrome

    Craniosynostosis cleft lip palate arthrogryposis Craniosynostosis contractures cleft Craniosynostosis exostoses nevus epibulbar dermoid Craniosynostosis Fontaine type Craniosynostosis[elbiruniblogspotcom.blogspot.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 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]

  • Mandibulofacial Dysostosis

    In conclusion, in children with syndromic or complex craniosynostosis, diagnosing OSA using home cardiorespiratory monitoring is feasible.[doi.org] These include: micrognathia, malar hypoplasia, a relatively high nasal root with prominent ridge, everted lower lip, and (frequently) facial asymmetry.[ncbi.nlm.nih.gov] Anterior Chamber Brain Choroid Congenital Syndromes Albinism (see under Iris) Anomalies of Eye Size Chromosomal Anomalies Malformation of the Optic Cup Marcus Gunn Jaw-Winking[atlasophthalmology.net]

  • Schwartz-Jampel Syndrome

    […] syndromes 269 BeckwithWiedemann syndrome 273 Sotos syndrome 277 Hamartosis syndromes 289 Neurofibromatosis1 298 Tuberous sclerosis 302 Management of craniofacial syndromes 315 Craniosynostosis[books.google.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 Ptosis[rarediseases.info.nih.gov] Nearsightedness [ more ] 0000545 Osteoporosis 0000939 Overfolded helix Overfolded ears 0000396 Pectus carinatum Pigeon chest 0000768 Platyspondyly Flattened vertebrae 0000926 Prominent[rarediseases.info.nih.gov]

  • Congenital Cataract

    With Radial Defects Craniosynostosis-Radial Aplasia Syndrome BGS 218600 Genetic Test Registry Basal Cell Carcinoma, Susceptibility To, 1 BCC1 605462 Genetic Test Registry[ukgtn.nhs.uk] 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] & Experimental Ophthalmology, Congenital Anomalies, Congenital Heart Disease, World journal for pediatric & congenital heart surgery[imedpub.com]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    Symptoms - Craniosynostosis- sagittal- with Dandy-Walker malformation and hydrocephalus The list of signs and symptoms mentioned in various sources for Craniosynostosis, sagittal[checkorphan.org] […] pitched voice Dilatation Prominent nasal bridge Hydrops fetalis Reduced subcutaneous adipose tissue Entropion Progeroid facial appearance Severe intrauterine growth retardation[mendelian.co] WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13 High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5 Congenital[mendelian.co]

  • Baller-Gerold Syndrome

    Baller-Gerold syndrome (BGS) is a rare autosomal recessive condition with radial aplasia/hypoplasia and craniosynostosis (OMIM 218600).[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]

  • Malpuech Syndrome

    Michels syndrome is characterized by cleft lip and palate, anterior chamber anomalies, blepharophimosis, epicanthus inversus, and craniosynostosis.[ncbi.nlm.nih.gov] These include: micrognathia, malar hypoplasia, a relatively high nasal root with prominent ridge, everted lower lip, and (frequently) facial asymmetry.[ncbi.nlm.nih.gov] […] with brain and eye anomalies), type A , see Walker-Warburg syndrome muscular dystrophy-dystroglycanopathy [with brain and eye anomalies], type A , see Walker-Warburg syndrome[herenciageneticayenfermedad.blogspot.com]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    Syndrome type II Marfan Syndrome type III Marfan Syndrome type IV Marfan Syndrome type V Marfan syndrome Marfan-like syndrome, Boileau type Marfan-Like syndrome Marfanoid craniosynostosis[academickids.com] […] of the zygomatic bone Prominence of cheekbone Pronounced cheekbone [ more ] 0012370 Prominent nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose[rarediseases.info.nih.gov] Multiple vertebral anomalies unusual facies[?] Mumps Munchausen by proxy syndrome[?] Muscle-eye-brain syndrome[?][encyclopedia.kids.net.au]

  • Noonan Syndrome

    […] with craniosynostosis.[ncbi.nlm.nih.gov] 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]

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