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Spondyloepimetaphyseal Dysplasia Type Shohat
vara 0002812 Delayed epiphyseal ossification 0002663 Disproportionate short stature 0003498 Fibular overgrowth Overgrowth of calf bone 0003099 Flared metaphysis Flared wide[rarediseases.info.nih.gov]
vara ), and a foot deformity known as clubfoot .[en.wikipedia.org]
[…] not available through HPO Abnormality of the abdominal wall 0004298 Autosomal recessive inheritance 0000007 Bell-shaped thorax 0001591 Central vertebral hypoplasia 0008463 Coxa[rarediseases.info.nih.gov]
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Spondyloepimetaphyseal Dysplasia Type Irapa
57 Skeletal: osteoarthritis spondyloepimetaphyseal dysplasia Chest Ribs Sternum Clavicles And Scapulae: pectus carinatum widened costochondral junction Skeletal Pelvis: coxa[malacards.org]
Classification bone, developmental, genetic Phenotypes Arthralgia ; Autosomal recessive inheritance ; Broad femoral neck ; Broad foot ; Broad palm ; Capitate-hamate fusion ; Coxa[mousephenotype.org]
vara ), and a foot deformity known as clubfoot .[en.wikipedia.org]
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Coxa Vara
coxa vara.[symptoma.com]
Coxa vara can happen in cleidocranial dysostosis .[en.wikipedia.org]
The diagnosis was developmental coxa vara in 21 patients and congenital femoral deficiency in 12.[ncbi.nlm.nih.gov]
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Spondyloepiphyseal Dysplasia Congenita
Their height was less than -7SD of average Japanese of the same age, and all were associated with severe coxa vara.[ncbi.nlm.nih.gov]
Herein, we describe a unique case of SEDC with mild coxa vara (SEDC-M) caused by double de novo COL2A1 mutations located on the same allele.[ncbi.nlm.nih.gov]
Myelopathy was found in 9 individuals with severe SEDC who presented with marked short stature and severe coxa vara; of these, 6 had gait disturbances.[ncbi.nlm.nih.gov]
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Spondyloepimetaphyseal Dysplasia Type Bieganski
vara flared iliac wings short, hypoplastic femoral necks cone-shaped capital femoral epiphyses Head And Neck Face: midface hypoplasia low frontal hairline coarse facies Head[malacards.org]
vara), and an inward- and upward-turning foot ( clubfoot ).[ghr.nlm.nih.gov]
vara; c: left hand: noteabsence of cone shaped epiphyses.2648 AMERICAN JOURNAL OF MEDICAL GENETICS PART Ation has never been reported in the literature.[docslide.com.br]
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Spondylometaphyseal Dysplasia Type East African
Signs and Symptoms Bell-shaped thorax Brachydactyly syndrome Coxa vara Disproportionate short stature Disproportionate short-limb short stature Genu varum Metaphyseal widening[familydiagnosis.com]
Showing of 13 Percent of people who have these symptoms is not available through HPO Bell-shaped thorax 0001591 Brachydactyly Short fingers or toes 0001156 Coxa vara 0002812[rarediseases.info.nih.gov]
vara Genu varum Metaphyseal widening Short long bone Ovoid vertebral bodies Disproportionate short stature Sporadic Rounded epiphyses Disproportionate short-limb short stature[familydiagnosis.com]
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SPONASTRIME Dysplasia
Previously undescribed complications of this condition are subglottic stenosis and tracheo-broncho-malacia, developmental coxa vara, and avascular necrosis of the capital[ncbi.nlm.nih.gov]
Short-limb dwarfism Hematologic Hypogammaglobulinemia Performance Mental retardation Respiratory Laryngotracheomalacia Skeletal Biconcave vertebral bodies (later childhood) Coxa[datagenno.com]
vara Decreasing lumbar vertebrae interpediculate distance Delayed bone age Delayed carpal bone ossification Flattened capital femoral epiphyses Hypoplastic epiphyses Irregular[datagenno.com]
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Schwartz-Jampel Syndrome
[…] valga ; Coxa vara ; Decreased testicular size ; Delayed skeletal maturation ; Flat face ; Flexion contracture of toe ; Full cheeks ; Generalized hirsutism ; High pitched[mousephenotype.org]
vara.[whonamedit.com]
vara and coxa valga Deformities of the fingers Clubfoot and/or flat feet Osteoporosis Both muscle hypertrophy and atrophy Chondrodystrophy (abnormalities of the cartilage[forgottendiseases.org]
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Spondyloepimetaphyseal Dysplasia Type Missouri
vara, genu varum and pear-shaped vertebrae in childhood.[malacards.org]
vara, genu varum, and pear-shaped vertebrae.[medical-dictionary.thefreedictionary.com]
[…] is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa[malacards.org]
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Strudwick Syndrome
Common Name(s) Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome The camptodactyly-arthropathy-coxa vara-pericarditis syndrome is an autosomal recessive condition[diseaseinfosearch.org]
vara, clubfoot, and abnormal epiphyses or metaphyses).[orpha.net]
Impaired breathing * Enlarged liver * Enlarged spleen * Protruding abdomen * Delayed growth * Delayed motor milestones * Lax joints * Inability to fully extend elbows * Coxa[checkorphan.org]