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60 Possible Causes for Beaked Nose, Skeletal Dysplasia, Systemic Scleroderma

  • Hallermann Syndrome

    Syndrome Clouston Syndrome Coffin-Siris Syndrome Cooks Syndrome Corneodermatoosseous Syndrome Cranioectodermal Dysplasia 1 Deafness with Anhidrotic Ectodermal Dysplasia Deafness[] […] sclerosis, Skerodermie ICD 10: M34.0 Synonyme: Progressive systemic sclerosis, Scleroderma, CREST syndrome Spinale Muskelatrophie ( 1 Files ) Erkrankung: Spinale Muskelatrophie[] The Hallermann-Streiff syndrome is characterized by bird-like face, micropthalmia, cataracts, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy[]

  • Progeria

    Disease manifestations include severe failure to thrive, scleroderma-like skin, global lipodystrophy, alopecia, joint contractures, skeletal dysplasia, global accelerated[] The child also presented scleroderma plaques on the abdomen.[] […] wasting, skin atrophy, disseminated skeletal osteoporosis (documented for at least 25 years), especially in the vertebral column and metacarpal joints with short stature, beaked[]

  • Crouzon Syndrome-Acanthosis Nigricans Syndrome

    FGFR3 mutation-associated conditions include five skeletal dysplasias: achondroplasia, hypochondroplasia, thanatophoric dysplasia type 1, thanatophoric dysplasia type 2 and[] 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.[] cutaneous systemic sclerosis Synonym(s): - Crouzono-dermoskeletal syndrome Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis[]

  • Werner Syndrome

    dysplasia Torrance type Polycystic kidney disease 2 Polycystic kidney disease, adult type Polycystic kidney disease, infantile type Polyglandular autoimmune syndrome, type[] An excellent discussion of the distinguishing features that separate systemic scleroderma from WS is also presented.) Capell, BC, Tlougan, BE, Orlow, SJ.[] Grating hair, scanty eyebrows, a pinched or beaked nose, protuberant eyes and the absence of eyelashes contribute to the presenile appearance.[]

  • Nestor-Guillermo Progeria Syndrome

    (MED) Metaphyseal dysplasias TRPV4-related skeletal dysplasias Dyggve-Melchior-Clausen disease and Smith-McCort dysplasia Schimke immunoosseous dysplasia Progressive pseudorheumatoid[] […] blood vessels, muscles, and internal organs.There are two main types: localized scleroderma, which affects only the skin; and systemic scleroderma, which affects the blood[] Burtner, CR; Kennedy, BK Teriparatide therapy for alendronate‐associated osteonecrosis of the jaw Cheung, A; Seeman, E Skeletal phenotype of mandibuloacral dysplasia associated[]

  • Acanthosis Nigricans

    KEYWORDS: FGFR3; SADDAN; double missense mutation; skeletal dysplasia[] , scleroderma, Sjögren syndrome, or Hashimoto thyroiditis.[] Crouzon syndrome is a craniosynostosis syndrome, characterized by cloverleaf skull, hypertelorism, exophthalmos, external strabismus, parrot-beaked nose, short upper lip,[]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    […] hypoplasia CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA chondrodysplasia Blomstrand type Chondrodysplasia[] cutaneous systemic sclerosis Childhood-onset nemaline myopathy Congenital fiber-type disproportion myopathy Congenital myopathy with excess of thin filaments Intermediate[] Facial dysmorphism include a beaked nose, flared nostrils, and a wide mouth with a 'cupid's-bow' shaped upper lip. A particular ...[]

  • Familial Scaphocephaly Syndrome

    Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.[] cutaneous systemic sclerosis Synonym(s): - Scaphocephaly - macrocephaly - maxillary retrusion - intellectual deficit Classification (Orphanet): - Rare bone disease - Rare[] Affected individuals have distinct facial featurs like bulging ees, beaked nose, and underdeveloped jaws. Apert syndrome is similar to Crouzon syndrome.[]

  • Skin Atrophy

    This is likely the same disorder as the previously described ‘mesodermal dysgenesis of the iris and skeletal dysplasia’ and formerly listed as 270240 in OMIM.[] , systemic lupus erythematosus).[] Systemic Features: The facies are sometimes described as 'bird-like' with a beaked nose, brachycephaly, and micrognathia.[]

  • Autosomal Dominant Larsen Syndrome

    Larsen's syndrome: a skeletal dysplasia with multiple joint dislocations and unusual facies.[] It is characterized by deep-set eyes, flat beaked nose, low set ears, and micrognathia and joint deformities .[] cutaneous systemic sclerosis MELAS syndrome Mantle cell lymphoma Marfan syndrome type 1 Maternally-inherited Leigh syndrome Methylmalonic acidemia with homocystinuria, type[]

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