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53 Possible Causes for Cataract, Prominent High Nasal Root, Short Neck

  • Schwartz-Jampel Syndrome

    The syndrome also induces various skeletal irregularities, such as micrognathia, pectus carinatum, kyphosis, coxa valga, short femoral bones and a short neck.[symptoma.com] 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]

  • Noonan Syndrome

    Noonan syndrome is an autosomal, dominantly inherited disease; it is physically characterized by short stature, short neck, webbed neck, abnormal auricles, high arched palate[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] Clinical phenotype (facial dysmorphism, soft hair, short neck, broad chest, widely spaced nipples, mild pectus carinatum, deep palmar creases, unilateral cryptorchidism),[ncbi.nlm.nih.gov]

  • Congenital Cataract

    Dysmorphic features include a short neck, bitemporal narrowing, depressed nasal bridge, and proximal limb shortening.[disorders.eyes.arizona.edu] Note that cataract may affect one or both eyes.[symptoma.com] 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]

  • Chudley-Rozdilsky Syndrome

    Spine: lumbar lordosis, exaggerated Growth Height: short stature Genitourinary Internal Genitalia Female: hypogonadotropic hypogonadism Neurologic Central Nervous System:[malacards.org] 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]

  • Raine Syndrome

    neck * Stillbirth * Retarded fetal growth Causes - Raine syndrome Not supplied.[checkorphan.org] […] epilepsy Hutterite cerebroosteonephrodysplasia syndrome Ayazi syndrome Male pseudohermaphroditism due to defective LH molecule Omenn syndrome Early-onset anterior polar cataract[checkrare.com] Case 2: brachycephaly, bilateral epicanthal folds, midface and nasal root hypoplasia with absence of nasal crest and micrognathia.[bmcmedgenet.biomedcentral.com]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    neck Hepatomegaly Abnormality of the skeletal system Flat face Kyphosis Mask-like facies Abnormality of immune system physiology Blepharophimosis Talipes Malar flattening[mendelian.co] […] complementation type Methylenetetrahydrofolate reductase deficiency Methylmalonic acidemia with homocystinuria Methylmalonic acidemia Methylmalonic aciduria microcephaly cataract[academickids.com] […] 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

    […] face Limitation of joint mobility Bifid uvula Webbed neck Knee flexion contracture Lumbar hyperlordosis Short phalanx of finger Scrotal hypoplasia Accelerated skeletal maturation[mendelian.co] 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]

  • Antenatal-Onset Multicore Myopathy with Arthrogryposis

    neck * Short neck Prevention - Minicore myopathy- antenatal onset- with arthrogryposis Not supplied.[checkorphan.org] , Central Nuclear Cataract, Congenital Cataract, Coppock-like Cataract, Marner Type Cataract, Ocular Anterior Dysgenesis and Coloboma Cataract, Primary Congenital Cataract[sequencing.com] Other features included dolichocephaly, prominent nasal root, oblique palpebral fissures, high-arched palate, low-set ears, and short neck with mild pterygium colli.[bio2rdf.org]

  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    The patient had intrauterine growth retardation, sparse scalp hair, sparse eyebrows and eyelashes, high arched palate, micrognathia, low set ears, short neck, clenched fists[ajol.info] ; 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]

  • Psychomotor Retardation

    It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function.[icd10data.com] 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]

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