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55 Possible Causes for Cataract, Dysmorphic Face, Prominent High Nasal Root

  • Schwartz-Jampel Syndrome

    Ocular manifestation is a part of the syndrome and include blepharospasm, cataract, subluxation of lens and myopia.[ajol.info] 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] The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature[advbiores.net]

  • Noonan Syndrome

    He underwent an eye examination after complaining of decreased visual acuity in the right eye and was diagnosed with mature cataract, which was treated by cataract surgery[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] During adolescence, the nasal bridge is thinner and higher, with a “pinched” root and wide base, and the eyes appear less prominent.[rarediseases.org]

  • Chudley-Rozdilsky Syndrome

    Microcornea Syndrome Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome Cataracts, Ataxia, Short Stature, and Mental Retardation Catel Manzke Syndrome Cauda equina[rgd.mcw.edu] 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] Muscular dystrophy, congenital, infantile with cataract and hypogonadism 0 *Cataract *Hypogonadism *Muscular Dystrophies/congenital.[reference.md]

  • Klein-Waardenburg Syndrome

    Vichare N, Bhargava N (2013) Waardenburg syndrome: a rare case with bilateral congenital cataract: an unusual entity.[link.springer.com] nasal root, prominent columella Hypoplastic alae nasi Premature gray hair (before age 30 years) W index: The measurements necessary to calculate the W index (in mm) are as[en.wikibooks.org] […] form of hereditary nephritidis Patients develop glomerulonephritis that progresses to renal failure Some patients develop hearing loss 10% have eye abnormalities such as cataracts[medbullets.com]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    Mental retardation cataracts calcified pinnae myopathy[?] Mental retardation coloboma slimness[?] Mental retardation contractural arachnodactyly[?][encyclopedia.kids.net.au] […] 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] […] facial features (i.e. asymmetry of the face, myopathic facial movements, ptosis, posteriorly rotated ears, cleft palate), progressive scoliosis and episodes of malignant[malacards.org]

  • Qazi-Markouizos Syndrome

    Microcornea Syndrome Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome Cataracts, Ataxia, Short Stature, and Mental Retardation Catel Manzke Syndrome Cauda equina[rgd.mcw.edu] nasal bridge Elevated nasal bridge High nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Seizures[rarediseases.info.nih.gov] Syndrome Facial Dysmorphism with Multiple Malformations Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly facial hemiatrophy Facio Thoraco Genital Syndrome[rgd.mcw.edu]

  • Renpenning Syndrome 1

    Abnormality of the hair ; Abnormality of the rib cage ; Anal atresia ; Ankylosis ; Anxiety ; Atrial septal defect ; Blindness ; Brachycephaly ; Bulbous nose ; Camptodactyly ; Cataract[mousephenotype.org] He shows large, low-set ears, high nasal root, micrognathia, long philtrum, and prominent metopic suture.[doi.org] faces.[flybase.org]

  • Psychomotor Retardation

    Abstract We report four children (three sibs and one sporadic case) with congenital sutural cataract (opacity of the sutures of the crystalline lens), retinitis pigmentosa[ncbi.nlm.nih.gov] Additional findings included narrow, high arched palate, prominent nasal root, long philtrum, distended abdomen, and drooling from open mouth.[ncbi.nlm.nih.gov] Dysmorphic face in two siblings with infantile neuroaxonal dystrophy . Genet Couns. 2002;13(4):465-73.[disorders.eyes.arizona.edu]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    Mental Retardation Sensenbrenner syndrome Shprintzen Golberg Craniosynostosis Skeletal Dysplasia, San Diego Type Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts[rgd.mcw.edu] […] pitched voice Dilatation Prominent nasal bridge Hydrops fetalis Reduced subcutaneous adipose tissue Entropion Progeroid facial appearance Severe intrauterine growth retardation[mendelian.co] Figure 1 Faces and toe dysmorphisms from patients CCM067 and CCM095.[ojrd.biomedcentral.com]

  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    ; 612018; SLC16A12 Cataract, juvenile-onset; 604219; BFSP2 Cataract, lamellar 2; 610425; CRYBA4 Cataract, lamellar; 116800; HSF4 Cataract, Marner type; 116800; HSF4 Cataract[howlingpixel.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 Proximal[rarediseases.info.nih.gov] In addition to the dysmorphic face, we also noted cubitus varus deformity in both upper limbs (Figure 3), heel valgus deformity in both lower limbs (Figure 4), and wide base[oatext.com]

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