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14 Possible Causes for Congenital Eye Anomaly, Prominent High Nasal Root, Receding Chin

  • Hallermann-Streiff Syndrome

    The patient had mandibulofacial dystocia with a bird-like appearance, a mouth opening of 4 cm, a receding chin, and a Mallampati class 3 examination.[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 children display facial dysmorphism (a small forehead, a flat base of the nose, a receding chin, an irregular order of the teeth, low-set ears, a high-arched palate, low[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] Nearsightedness [ more ] 0000545 Osteoporosis 0000939 Overfolded helix Overfolded ears 0000396 Pectus carinatum Pigeon chest 0000768 Platyspondyly Flattened vertebrae 0000926 Prominent[rarediseases.info.nih.gov]

  • Mandibulofacial Dysostosis

    Plastic surgery can correct the receding chin and other changes in face structure.[medlineplus.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] 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]

  • Raine Syndrome

    chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Short neck Decreased length of neck 0000470 30%-79% of people have these symptoms Gingival fibromatosis 0000169[rarediseases.info.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

    chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Scoliosis Abnormal curving of the spine 0002650 Short stature Decreased body height Small stature [ more ] 0004322[rarediseases.info.nih.gov] Nager acrofacial dysostosis is a genetic congenital anomaly syndrome.[en.wikipedia.org] 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]

  • Renpenning Syndrome 1

    chin, brachydactyly, hypoplastic genitalia, and a normal karyotype.[icd10data.com] 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]

  • Malpuech Syndrome

    The chin was markedly receded. The palate was completely cleft; the lips were intact.[slideheaven.com] 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]

  • Wolf-Hirschhorn Syndrome

    The chin is small and slightly receding in children, becoming normal or even protruding in adults.[ojrd.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]

  • Schinzel-Giedion Syndrome

    chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Sclerosis of skull base Dense bone of skull base 0002694 Short 1st metacarpal Shortened 1st long bone of hand[rarediseases.info.nih.gov] , prominent forehead, hypertelorism, and depressed nasal root may suggest Schinzel-Giedion syndrome.[dukespace.lib.duke.edu] […] slant of the eyes and hypertelorism, congenital hip anomaly, scoliosis, hemivertebra, bilateral syndactyly of the fingers and toes, cubitus valgus, mitral valve prolapse,[findzebra.com]

  • Cutaneous Mastocytosis - Short Stature - Conductive Hearing Loss - Microtia

    Micrognathia may be accentuated by a receding chin. One of the girls had a particularly long tongue, another had full lips.[symptoma.com] ; [Ears]; Attached ear lobules; [Eyes]; Downslanting palpebral fissures; [Nose]; Prominent nasolabial folds; Broad nasal bridge; Broad nasal root; [Mouth]; Small mouth; High-arched[findzebra.com] Congenit Anom (Kyoto) 2010;50:197-9. 7. Mwenda AS. Peters anomaly with post axial polydactyly, bilateral camptodactyly and club foot in a Kenyan neonate: A case report.[jcnonweb.com]