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35 Possible Causes for Cataract, Contractures of the Fingers, 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] Moderately decreased fetal motor activity and constant flexion of the fingers were observed at both examinations.[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]

  • Hallermann-Streiff Syndrome

    To report two cases of Hallermann-Streiff syndrome with exudative retinal detachment after cataract surgery. Case report.[ncbi.nlm.nih.gov] ., radiohumeral or radioulnar synostosis), long, thin fingers and toes (arachnodactyly), and bowing of the thigh bones.[ccakids.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 Pulmonary[rarediseases.info.nih.gov]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    […] complementation type Methylenetetrahydrofolate reductase deficiency Methylmalonic acidemia with homocystinuria Methylmalonic acidemia Methylmalonic aciduria microcephaly cataract[academickids.com] Symptoms - Malignant hyperthermia arthrogryposis torticollis - Torticollis at birth - Progressive scoliosis - Dysmorphic facial features - Multiple joint contractures - Cleft[checkorphan.org] […] 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]

  • 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] Underdeveloped nasal alae Intrauterine growth retardation Long eyelashes Delayed puberty Talipes equinovarus Growth delay Congenital onset Muscle weakness Myopathy Flexion contracture[mendelian.co] 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]

  • 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] They include craniosynostosis , midface hypoplasia with proptosis, ear anomalies, choanal stenosis , long tapered fingers with a bulbous tip, elbow joint contracture due to[ihop-net.org] […] pitched voice Dilatation Prominent nasal bridge Hydrops fetalis Reduced subcutaneous adipose tissue Entropion Progeroid facial appearance Severe intrauterine growth retardation[mendelian.co]

  • Klein-Waardenburg Syndrome

    Vichare N, Bhargava N (2013) Waardenburg syndrome: a rare case with bilateral congenital cataract: an unusual entity.[link.springer.com] We report on 2 sibs with the Klein-Waardenburg syndrome; they had dystopia canthorum, blepharophimosis, and bilateral flexion contractures of the fingers.[ncbi.nlm.nih.gov] 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]

  • 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] Cataract MedGen UID: 368085 • Concept ID: C1962983 • Finding A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.[ncbi.nlm.nih.gov]

  • X-Linked Mandibulofacial Dysostosis

    Retardation-Spasticity-Distal Transverse Limb Defects Syndrome Mental Retardation-Typical Facies-Aortic Stenosis Syndrome Mercaptolactate-Cysteine Disulfiduria (Mcdu) Mesiodens-Cataract[neo-genetics.com] Mild skin syndactyly, camptodactyly, finger contractures, and shortening of metacarpals have been noted.[disorders.eyes.arizona.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]

  • Rigid Spine Syndrome

    The disease has three major subtypes: Mild DM1, characterized by cataract and mild myotonia and normal life span Classic DM1, characterized by myotonia, cataracts, muscle[centogene.com] Abnormality of mitochondrial metabolism Slender finger Recurrent lower respiratory tract infections Follicular hyperkeratosis Limb-girdle muscular dystrophy Pes valgus Long[mendelian.co] 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]

  • Ectrodactyly

    Additional abnormalities such as alopecia, cataract, absent eyebrows, and oligodontia may occur.[ncbi.nlm.nih.gov] Long-term problems such as persistent radial deviation of the index finger and unyielding flexion contractures can be avoided.[ncbi.nlm.nih.gov] Reported dysmorphisms include high forehead, prominent eyes, long eyelashes, hypertelorism, flat nasal root, low-set dysmorphic ears (figure 1A, B, D ).[ojrd.biomedcentral.com]

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