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17 Possible Causes for Cone-Shaped Epiphyses of Phalanges 2-5

  • Ellis-Van Creveld Syndrome

    epiphyses of phalanges 2 to 5 talipes equinovarus postaxial polydactyly fingers/toes nail dysplasia dandy-Walker malformation renal anomalies glomerulopathy with nephrotic[humpath.com] […] aspect of acetabula centrifugal shortening of limbs fusion of capitate and hamate genu valgum short, thickened tubular bones difficulty forming a fist postaxial polydactyly cone-shaped[humpath.com]

  • Hidrotic Ectodermal Dysplasia

    epiphyses of phalanges 2 to 5 Rib exostoses Myopia Scapular exostoses Epicanthus Depressed nasal bridge Multiple long-bone exostoses Sensorineural hearing impairment Nystagmus[mendelian.co] […] humor morphology Spinal cord compression Hypoplastic frontal sinuses Anhidrotic ectodermal dysplasia Lens luxation Amblyopia Low-set, posteriorly rotated ears Hypohidrosis Cone-shaped[mendelian.co]

  • Nivelon-Nivelon-Mabille Syndrome

    epiphyses of phalanges 2 to 5 Congenital megaureter Acetabular spurs Short iliac bones Capitate-hamate fusion Conical incisor Platyspondyly Thick lower lip vermilion Thick[mendelian.co] Osteoporosis Recurrent infections Patent ductus arteriosus Cardiomyopathy Nevus Thick vermilion border Epicanthus Autosomal dominant inheritance Abnormality of the alveolar ridges Cone-shaped[mendelian.co]

  • Trichorhinophalangeal Syndrome

    However, bone age radiograph of his younger brother who was 5 years old revealed the presence of cone-shaped phalangeal epiphyses with diffuse shortening of the phalanges[ijpeonline.biomedcentral.com] […] in addition to delayed bone age of 2–3 years ( 3.4 SD) (Figure 1 ).[ijpeonline.biomedcentral.com]

  • Geleophysic Dysplasia

    The radiological manifestations of AD include delayed bone age, cone-shaped epiphyses, internal notch of the femoral head, short metacarpals, and short phalanges [ 2 ].[synapse.koreamed.org] Recently, missense mutations clustered in exons 41 and 42 in the transforming growth factor-β binding-protein-like domain 5 (TB5) of FBN1 were identified as causative mutations[synapse.koreamed.org]

  • Rapp-Hodgkin Syndrome

    epiphyses of phalanges 2 to 5 Congenital megaureter Acetabular spurs Short iliac bones Capitate-hamate fusion Conical incisor Common atrium Horizontal ribs Abnormal oral[mendelian.co] Heterotopia Abnormality of the nail Dandy-Walker malformation Proportionate short stature Mild short stature Limb undergrowth Abnormality of bone marrow cell morphology Cone-shaped[mendelian.co]

  • Forbes-Albright Syndrome

    Premature fusion of the epiphyses. Cone shaped epiphyses of the second and third metacarpals. Figure 2.[em-consulte.com] Brachymétacarpie du 4 e rayon ; raccourcissement de la 2 e phalange du 5 e doigt droit. Short fourth metacarpal. Shortening of the second phalange of the fifth finger.[em-consulte.com]

  • Situs Inversus

    epiphyses of phalanges 2 to 5 Thick vermilion border Abnormality of the alveolar ridges Acetabular spurs Short iliac bones Congenital megaureter Capitate-hamate fusion Conical[mendelian.co] […] morphology Brachydactyly Smooth philtrum Poor speech Neurological speech impairment Apnea High forehead Autism Prominent forehead Midface retrusion Downslanted palpebral fissures Cone-shaped[mendelian.co]

  • Metaphyseal Acroscyphodysplasia

    These patients showed cone-shaped epiphyses involving the knee with metaphyseal cupping of hand bones, cone-shaped epiphyses of phalanges, slender phalanges of normal length[ispub.com] , advanced bone age and complete alopecia (5).[ispub.com] Bellini et al. (2) described the syndrome in two siblings, suggesting the possibility of an autosomal recessive inheritance.[ispub.com]

  • Ectodermal Dysplasia with Natal Teeth Type Turnpenny

    Short philtrum Abnormality of the alveolar ridges Cone-shaped epiphyses of phalanges 2 to 5 Congenital megaureter Acetabular spurs Short iliac bones Capitate-hamate fusion[mendelian.co] […] hypoplasia/aplasia Abnormality of the fingernails Situs inversus totalis Postaxial foot polydactyly Agenesis of permanent teeth Anal atresia Conical incisor Abnormal facial shape[mendelian.co]

Further symptoms