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2,554 Possible Causes for Congenital Hip Dysplasia, Disharmonic Maturation of Phalanges and Carpal Bones, Skeletal Dysplasia

  • Seckel Syndrome

    Based on the clinical and radiological features showing evidence of skeletal dysplasia, the diagnosis was revised to Majewski osteodysplastic primordial dwarfism type II ([ncbi.nlm.nih.gov] ; (3) marked disharmonic bone maturation between carpals and phalanges, between individual carpals, and from side to side; (4) alteration in the length of the hand bones,[ncbi.nlm.nih.gov] Dysplasias and Disorders Panel.[blueprintgenetics.com]

  • Mucopolysaccharidosis

    The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge.[ncbi.nlm.nih.gov] Radiographs were evaluated by a radiologist with special expertise in skeletal dysplasias.[ncbi.nlm.nih.gov] NAGLU and CYP26B1 mutations were related to MPS IIIB and skeletal dysplasia, respectively.[ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Turner Syndrome

    dysplasia.[magicfoundation.org] ., horseshoe kidney, duplicated or cleft renal pelvis), autoimmune thyroiditis, celiac disease, congenital hip dysplasia, and scoliosis. 11 Girls with Turner syndrome typically[aafp.org] […] developmental dysplasia of the hip occurs more frequently in girls with Turner syndrome than in the general population. 52, 57 This contributes to the development of arthritis[doi.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Mucopolysaccharidosis 2

    Skeletal abnormalities include a bell-shaped chest, a flattening or curvature of the spine, shortened long bones, and dysplasia of the hips, knees, ankles, and wrists.[en.wikipedia.org] MPS IVB is characterized by skeletal changes, including short stature and skeletal dysplasia.[centogene.com] Manifestations of abnormal cell function include syndromic intellectual disability, growth failure, and skeletal dysplasia.[emedicine.medscape.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Mucopolysaccharidosis 6

    Radiographs were evaluated by a radiologist with special expertise in skeletal dysplasias.[scholars.northwestern.edu] [emedicine.medscape.com] Musculoskeletal Skeletal Dysplasia Radiographs were evaluated by a radiologist with special expertise in skeletal dysplasias.[symptoma.com] The characteristic skeletal dysplasia includes short stature, dysostosis multiplex and degenerative joint disease.[orpha.net]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Hip Dysplasia Type Beukes

    Skeletal dysplasias are more commonly known as types of dwarfism, but not all skeletal dysplasias cause a person to be short in height.[malacards.org] Total hip replacement in congenital dislocation and dysplasia of the hip. The Journal of Bone & Joint Surgery, 61(1), pp.15-23.[citethisforme.com] , of hip; Cilliers-Beighton syndrome See More Categories: Beukes hip dysplasia (BHD) is a rare inherited skeletal dysplasia affecting the hip joint.[rarediseases.info.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Coxa Vara

    Abstract Coxa vara can be a progressive deformity in children with skeletal dysplasia.[ncbi.nlm.nih.gov] […] head necrosis in the course of congenital dysplasia of the hip (n 2).[ncbi.nlm.nih.gov] Ten of the children had unilateral hip disease and were otherwise normal while four had bilateral hip disease due to generalised skeletal dysplasias.[ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Schwartz-Jampel Syndrome

    dysplasia.[ncbi.nlm.nih.gov] Our patient, diagnosed at 4 weeks of life, lacks the major skeletal anomalies, such as pectus carinatum, congenital hip dysplasia, and bowing of the long bones usually associated[ncbi.nlm.nih.gov] Hip dysplasia with acetabular flattening, congenital hip dislocation, joint contractures, bowing and metaphyseal widening of long bones, osteopenia and limitation of joint[ispub.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Coxa Valga

    dysplasias, and juvenile idiopathic arthritis.[medbox.iiab.me] […] of the femoral neck following adduction osteotomy in congenital dysplasia of the hip[semanticscholar.org] The differential diagnosis includes neuromuscular disorders (i.e. cerebral palsy, spinal dysraphism, poliomyelitis), skeletal dysplasias, and juvenile idiopathic arthritis[webuildmachines.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • LIG4 Syndrome

    […] and immune defect (OLEDAID) KAT6B Genitopatellar syndrome, Ohdo syndrome, SBBYS variant LBR Greenberg/HEM skeletal dysplasia, Hydrops-ectopic calcification-moth-eaten skeletal[genda.com.ar] Eight patients have been described with bone abnormalities including bone hypoplasia, syndactyly, polydactyly and congenital hip dysplasia.[doi.org] CENPJ, CEP152, PCNT, ATR, RBBP8, CEP63 Specificity 34 % Genes 100 % Skeletal Dysplasias Core Panel. By Blueprint Genetics in Finland.[mendelian.co]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones

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