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67 Possible Causes for Cataract, Prominent High Nasal Root, Short Stature

  • Hallermann-Streiff Syndrome

    A case of a 29-year-old man with atypical HSS with neither cataracts, hair and skin alterations, nor short stature is reported, with special consideration to oral findings[ncbi.nlm.nih.gov] To report two cases of Hallermann-Streiff syndrome with exudative retinal detachment after cataract surgery. Case report.[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]

  • Chudley-Rozdilsky Syndrome

    Homepage Rare diseases Search Search for a rare disease Intellectual disability-myopathy-short stature-endocrine defect syndrome Disease definition Intellectual disability-myopathy-short[orpha.net] 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]

  • Schwartz-Jampel Syndrome

    The main clinical features of this syndrome include generalized myotonic myopathy, skeletal dysplasia, blepharophimosis, microstomia, contracture of joints and short stature[ncbi.nlm.nih.gov] 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]

  • Malignant Hyperthermia - Arthrogryposis - Torticollis

    stature Dwarfism Proportionate dwarfism Short stature, severe [ more ] 0003510 Wide intermamillary distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples[rarediseases.info.nih.gov] Mental retardation cataracts calcified pinnae myopathy[?] Mental retardation coloboma slimness[?] Mental retardation contractural arachnodactyly[?][encyclopedia.kids.net.au] […] complementation type Methylenetetrahydrofolate reductase deficiency Methylmalonic acidemia with homocystinuria Methylmalonic acidemia Methylmalonic aciduria microcephaly cataract[en.wikipedia.org]

  • Renpenning Syndrome 1

    From Wikidata Jump to navigation Jump to search intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes[wikidata.org] 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]

  • Noonan Syndrome

    […] signalling pathways involved in short stature.[doi.org] 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]

  • Baller-Gerold Syndrome

    In the second family, the affected male had craniosynostosis, radial ray defect, poikiloderma, and short stature. He had a homozygous splice site mutation (IVS17-2A C).[ncbi.nlm.nih.gov] Complications include a high risk of skin cancer, with about half having skin cancer by age 10 without preventive efforts, and cataracts.[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 Scoliosis[rarediseases.info.nih.gov]

  • Congenital Cataract

    Cataracts, Growth Hormone Deficiency, and Skeletal Dysplasia Clinical Characteristics Ocular Features: Lens opacities can be seen in infancy or childhood and may be congenital[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]

  • Qazi-Markouizos Syndrome

    […] and Facial Dysmorphism Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations Mental Retardation, Skeletal Dysplasia, and Abducens Palsy Mental Retardation[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] Related symptoms: Autosomal recessive inheritance Intellectual disability Short stature Microcephaly Micrognathia SOURCES: UMLS DOID OMIM MONDO More info about SECKEL SYNDROME[mendelian.co]

  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    The new mutation identified in this case could be associated with the severity of the phenotypic expression of the disease, resulting in the extreme short stature of the patient[ncbi.nlm.nih.gov] ; 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]

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