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139 Possible Causes for Congenital Eye Anomaly, Prominent High Nasal Root, Thin, Small and Pointed Nose

  • Hallermann-Streiff Syndrome

    It is the frontal prominence, the thin pointed nose and the small chin which are suggestive, especially in the presence of microphthalmia and cataracts.[suite.face2gene.com] 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] The metacarpals were also thin and gracile in appearance with metaphyseal widening.[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]

  • Frontonasal Dysplasia

    The upper face (base of the nose to height of the commissure of the mouth) is relatively small compared with the width of the face (lateral points of zygoma).[nature.com] Abstract Frontonasal dysplasia is a rare congenital anomaly affecting the eyes, nose and forehead, and occurs sporadically in most of the cases.[ncbi.nlm.nih.gov] […] fissures with multiple eyelid colobomas, a broad and high nasal root, an absent nasal tip, a wide columella, a long and smooth philtrum, a carp-like mouth, macrostomia, a thin[ncbi.nlm.nih.gov] She later presented with a palpable bone graft prominence, associated contour deformity, and an area of overlying paper-thin skin at the nasal tip.[ncbi.nlm.nih.gov]

    Missing: Prominent High Nasal Root
  • Congenital Cataract

    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] The magnetic resonance imaging showed unusual pattern of swelling of the caudate heads and thinning of the putamina with severe degree of hypometabolism on the [18F] deoxyglucose[ncbi.nlm.nih.gov] 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] Several larger axons surrounded by a thin myelin sheath (arrows) and a small onion bulb (arrowhead) are observed.[jamanetwork.com]

    Missing: Small and Pointed Nose
  • Schwartz-Jampel Syndrome

    Specifically, it is found in part of the extracellular matrix called the basement membrane, which is a thin, sheet-like structure that separates and supports cells in many[ghr.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]

    Missing: Small and Pointed Nose
  • Rigid Spine Syndrome

    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] It is required for the proper assembly of thin filaments and for the maintenance of thin filament length and contractile function.[emedicine.medscape.com] 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] Several of the genes encode components of skeletal muscle sarcomeric thin filaments ( Sanoudou and Beggs, 2001 ).Mutations in the NEB gene are the most common cause of nemaline[mendelian.co]

    Missing: Small and Pointed Nose
  • Seckel Syndrome

    (microcephaly); • pointed nose; • narrow face; • malformed ears; • high arched roof of the mouth (palate); • tooth malformation; • bony abnormalities such as unusually small[secure.ssa.gov] Congenital cataracts or other structural anomalies of the eye may be present.[ncbi.nlm.nih.gov] Sparse, thin scalp hair sparse-absent scalp hair [ more ] 0002209 5%-29% of people have these symptoms Ectopic kidney Abnormal kidney location Displaced kidney [ more ] 0000086[rarediseases.info.nih.gov] Xwave Eywa Light (Xwave Eywa Line) Description Eywa Light is our thinnest vibration damping material, specifically designed to fit into smallest spaces and for thin metal[xwave.one]

    Missing: Prominent High Nasal Root
  • Congenital Syphilis

    The sabre tibia, interstitial keratitis leading to blindness, gummata causing perforations in nose and palate all point to this fact.[ijdvl.com] Their role is of vital importance in the effort to curb the spread of disease—yet, they are underpaid and spread too thin, with a single DIS covering the territory meant for[nwhn.org] The thin sclera composed of immature collagen is more translucent than normal, so that the underlying pigment becomes visible, resulting in the blue appearance of the sclera[casereports.bmj.com] Varicose ulcer: irregular and shallow, the edges are covered by thin, blue line of growing epithelium, while the base consists of pink, granulation tissue and located on the[drmhijazy.com]

    Missing: Prominent High Nasal Root
  • Sanjad-Sakati Syndrome

    The children were thin and lean with narrow faces, deep set small eyes, bowed nasal bridges, pointed noses, large ears, long philtrum, thin lips, long tapering fingers, clinodactyly[ncbi.nlm.nih.gov] It is characterized by the association of congenital hypothyroidism, growth retardation, psychomotor retardation, epilepsy, dysmorphic features (microcephaly, facial, eye,[ncbi.nlm.nih.gov] The facial features included microcephaly, thin lips, beaked nose, low set ears, and a retrognathic mandible.[ncbi.nlm.nih.gov] […] hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin[orpha.net]

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

    Craniofacial features in-clude slanting palpebral ssures, a prominent nose,small mouth, and micrognathia. The teeth are small,pointed, and widely spaced.[documents.tips] Chondro-osseous histology showed thinning of the growth plate, ballooned chondrocytes, reduced cellularity, lack of zonal and columnar formations, and poor formation of primary[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 Proximal[rarediseases.info.nih.gov] She had areceding forehead, downslanting palpebral ssures, aprominent nose, and low-set ears with small, widelyspaced pointed teeth and micrognathia (Fig. 2).[documents.tips]

    Missing: Congenital Eye Anomaly
  • Scott Bryant Graham Syndrome

    pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.EpidemiologyLess than 10 cases have been described in the literature so far.Clinical[malacards.org] anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities[rgd.mcw.edu] […] eyelashes [ more ] 0000527 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Narrow nasal bridge Narrow bridge of nose Nasal Bridge, Narrow Nasal bridge, thin[rarediseases.info.nih.gov] pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.[orpha.net]

    Missing: Prominent High Nasal Root

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