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1,578 Possible Causes for Congenital Eye Anomaly, Prominent High Nasal Root, Slender Long Bones

  • Hallermann-Streiff Syndrome

    Slender long bones with fractures have been described in a fetus with facial appearance of HSS. 4 We think that fractures of long bones should be considered a possible complication[adc.bmj.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] 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]

  • Kenny-Caffey Syndrome Type 1

    […] clavicles ; Proportionate short stature ; Recurrent bacterial infections ; Seizures ; Short foot ; Short palm ; Slender long bone ; Small hand ; Tetany ; Thin clavicles ;[mousephenotype.org] (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] long bones with medullary stenosis, thickened cortex of the long bones, hypocalcemia possibly with tetany at an early age, hyperphosphatemia, ocular abnormalities, and normal[semanticscholar.org]

    Missing: Prominent High Nasal Root
  • Congenital Cataract

    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] & Experimental Ophthalmology, Congenital Anomalies, Congenital Heart Disease, World journal for pediatric & congenital heart surgery[imedpub.com]

    Missing: Slender Long Bones
  • Schwartz-Jampel Syndrome

    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]

    Missing: Slender Long Bones
  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    long bones.[dev.docslide.net] […] 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]

  • 3M Syndrome Type 1

    Radiographic studies showed slender long bones and ribs, a narrow pelvis and foreshortened vertebral bodies.[ncbi.nlm.nih.gov] […] with brain and eye anomalies) ISPD Muscular dystrophy-dystroglycanopathy KBTBD13 Nemaline myopathy KLHL40 Nemaline myopathy LAMA2 Muscular dystrophy, congenital merosin-deficient[genda.com.ar] Increased radiolucency is unusual. 4 The metacarpal index, used to document slender long bones, is usually high.[ncbi.nlm.nih.gov]

    Missing: Prominent High Nasal Root
  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    […] of the forearm 0002986 Short 1st metacarpal Shortened 1st long bone of hand 0010034 Short distal phalanx of finger Short outermost finger bone 0009882 Slender long bone Long[rarediseases.info.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 Proximal[rarediseases.info.nih.gov] bones slender Thin long bones [ more ] 0003100 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 Sparse scalp hair Scalp hair, thinning Sparse, thin scalp[rarediseases.info.nih.gov]

    Missing: Congenital Eye Anomaly
  • Mulibrey Nanism Syndrome

    Total X-ray skeleton showed hypoplasia of the twelfth rib bilaterally and of the coccyx, slender long bones with thick cortex, and narrow medullary channels.[moh-it.pure.elsevier.com] , and prominent forehead), renal dysplasia and nephroblastomatosis, and multiple congenital anomalies.[clincancerres.aacrjournals.org] long bones with thick cortex and narrow medullar channels (B) Low and shallow (J-shaped) sella turcica Characteristic craniofacial features Scaphocephaly, triangular face[academic.oup.com]

    Missing: Prominent High Nasal Root
  • Wolf Hirschhorn Syndrome

    slender fingers and delayed bone age [ 15 ].[bmcpregnancychildbirth.biomedcentral.com] Salient Features 3-7 Craniofacial : "Greek warrior helmet" appearance - broad nasal root continuing into the forehead.[genetics4medics.com] The most commonly recognised include: cleft lip and/or palate , congenital heart disease, (see entry Heart Defects ), kidney problems (see entry Kidney disease ), eye anomalies[contact.org.uk]

  • Choroid Hemangioma

    anomaly whereby the eye is shorter than normal, develops a cataract, and may present with whitening of the pupil.[murraymd.com] Parents can observe the red reflex can be seen by dimming the room lights and using a flashlight to shine light directly into the child's eyes.[murraymd.com] […] a rare cancer, some pediatricians may fail to detect it early enough or sometimes mistakenly diagnose it as: Persistent hyperplastic primary vitreous (PHPV): an unusual congenital[murraymd.com]

    Missing: Prominent High Nasal Root Slender Long Bones

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