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29 Possible Causes for Beaked Nose, Juvenile Cataract, Systemic Scleroderma

  • Werner Syndrome

    An excellent discussion of the distinguishing features that separate systemic scleroderma from WS is also presented.) Capell, BC, Tlougan, BE, Orlow, SJ.[dermatologyadvisor.com] Grating hair, scanty eyebrows, a pinched or beaked nose, protuberant eyes and the absence of eyelashes contribute to the presenile appearance.[whonamedit.com] The patient had a high-pitched voice, hoarseness, a characteristic bird-like facial appearance with a beak-shaped nose, canities and juvenile cataracts.[ncbi.nlm.nih.gov]

  • Progeria

    […] wasting, skin atrophy, disseminated skeletal osteoporosis (documented for at least 25 years), especially in the vertebral column and metacarpal joints with short stature, beaked[ncbi.nlm.nih.gov] The child also presented scleroderma plaques on the abdomen.[ncbi.nlm.nih.gov] The children usually present in late infancy and early childhood with a characteristic phenotype of alopecia; short stature; abnormal skin, teeth, and nails; beaked nose;[ncbi.nlm.nih.gov]

  • Hallermann Syndrome

    We report a case with Hallermann-Streiffsyndrome having all the main features of the syndrome, however associated with juvenile glaucoma and without congenital cataract.[ncbi.nlm.nih.gov] The Hallermann-Streiff syndrome is characterized by bird-like face, micropthalmia, cataracts, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy[ncbi.nlm.nih.gov] […] sclerosis, Skerodermie ICD 10: M34.0 Synonyme: Progressive systemic sclerosis, Scleroderma, CREST syndrome Spinale Muskelatrophie ( 1 Files ) Erkrankung: Spinale Muskelatrophie[orphananesthesia.eu]

  • Crouzon Syndrome-Acanthosis Nigricans Syndrome

    cutaneous systemic sclerosis Synonym(s): - Crouzono-dermoskeletal syndrome Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis[csbg.cnb.csic.es] The craniosynostosis causes changes to the shape of the head as well as unique facial features that may include wide-set eyes, a beaked nose, and a small upper jaw.[diseaseinfosearch.org] 41 hereditary spastic paraplegia 42 hereditary spastic paraplegia 6 hereditary spastic paraplegia 73 hereditary spastic paraplegia 8 Holt-Oram syndrome hyperferritinemia-cataract[rgd.mcw.edu]

  • Skin Atrophy

    Rothmund-Thomson Syndrome Clinical Characteristics Ocular Features: Patients have been reported with juvenile and infantile cataracts.[disorders.eyes.arizona.edu] , systemic lupus erythematosus).[medicinetoday.com.au] Systemic Features: The facies are sometimes described as 'bird-like' with a beaked nose, brachycephaly, and micrognathia.[disorders.eyes.arizona.edu]

  • Gorlin-Chaudhry-Moss Syndrome

    We report a new association of PHID syndrome with severe systemic inflammation, scleroderma-like changes, and cardiomyopathy.[biomedsearch.com] Extraoral features of this patient were a broad forehead, hypertelorism, broad nasal bridge, beaked nose, and thin upper lip. There was the presence of dry skin.[zdoc.site] Cataracts, and Short Stature Syndrome Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa Rodrigues Blindness Rommen Mueller Sybert Syndrome Rowley-Rosenberg Syndrome[rgd.mcw.edu]

  • Autosomal Dominant Larsen Syndrome

    cutaneous systemic sclerosis MELAS syndrome Mantle cell lymphoma Marfan syndrome type 1 Maternally-inherited Leigh syndrome Methylmalonic acidemia with homocystinuria, type[csbg.cnb.csic.es] It is characterized by deep-set eyes, flat beaked nose, low set ears, and micrognathia and joint deformities .[lecturio.com] Cataracts, and Short Stature Syndrome 1 Retinitis Pigmentosa 5 Retinitis Pigmentosa 1 5 Retinitis Pigmentosa 10 4 Retinitis Pigmentosa 11 4 Retinitis Pigmentosa 12 5 Retinitis[preventiongenetics.com]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    cutaneous systemic sclerosis Childhood-onset nemaline myopathy Congenital fiber-type disproportion myopathy Congenital myopathy with excess of thin filaments Intermediate[csbg.cnb.csic.es] Facial dysmorphism include a beaked nose, flared nostrils, and a wide mouth with a 'cupid's-bow' shaped upper lip. A particular ...[kegg.jp] Cataracts, and Short Stature Syndrome 1 Retinitis Pigmentosa 5 Retinitis Pigmentosa 1 5 Retinitis Pigmentosa 10 4 Retinitis Pigmentosa 11 4 Retinitis Pigmentosa 12 5 Retinitis[preventiongenetics.com]

  • Renpenning Syndrome 1

    Scleroderma T Tangier Disease TAR Syndrome (Thrombocytopenia-Absent Radius) Tay-Sachs Disease (TSD) Thanatophoric Dysplasia 3-M Syndrome Tourette Syndrome Treacher Collins[corp.credoreference.com] It is characterized by microphthalmia, brachycephaly with frontal bossing, micrognathia and beaked nose.[bredagenetics.com] , juvenile 212500 AR HUT Cerebellar hypoplasia (VLDR-associated) 224050 AR HUT Cerebro-osteo-nephrodysplasia 236450 AR HUT Charcot-Marie-Tooth Disease 214400 AR OOA Cholestasis[wohproject.org]

  • PIBIDS Syndrome

    , see systemic scleroderma progressive sclerosing poliodystrophy , see Alpers-Huttenlocher syndrome progressive supranuclear ophthalmoplegia , see progressive supranuclear[herenciageneticayenfermedad.blogspot.com] nose * Receding chin * Protruding ears * Low birth weight * Short stature * Neurosensory deafness * Seizures * Tremors * Undescended testes * Underdeveloped female genitalia[checkorphan.org] cataract, poikiloderma, sparse scalp/eyebrow risk of cancer for Rothmund-Thomson syndrome Anhidrotic Ectodermal Dysplasia Christ-Siemens-Touraine Syndrome ectodysplasin-A[quizlet.com]

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