Possible Causes for Genu Valgum Mucopolysaccharidosis Type 4A Skeletal deformities (platyspondyly, kyphosis, scoliosis, pectus carinatum, genu valgum, long bone deformities) become more pronounced as the child grows. [orpha.net] Clinical features include short trunk dwarfism, dysostosis multiplex, progressive spinal deformity, short neck, pectus carinatum, genu valgum, pes planus, and odontoid hypoplasia [icd10data.com] The severe form is usually apparent between ages one and three years, often first manifesting as kyphoscoliosis, genu valgum and pectus carinatum2, 3. [centogene.com] Mucopolysaccharidosis Type 4 They presented marked growth retardation, spinal deformity, chest deformity, genu valgum, and corneal opacities. [cags.org.ae] valgum Thoracic manifestations anterior sternal bowing, increased AP chest diameter, wide ribs Echocardiography late onset aortic regurgitation Treatment and Prognosis Life [radiopaedia.org] Skeletal dysplasia : Kyphoscoliosis, genu valgum, chest wall deformities. Short stature. ligamentous laxity/joint hypermobility. [genetics4medics.com] Pseudoachondroplasia […] varum, genu valgum, or genu recurvatum underwent surgical correction. [appliedradiology.com] 25% of PSACH patients complained of tingling of limbs, no extraskeletal complications are attributed to this disorder.6 The authors also noted that 75% of patients with genu [appliedradiology.com] Legs are malaligned with a variety of knee deformities noted, including bow-legs (genu varum), knock-knees (genu valgum), and windswept deformities (bow-leg on one side and [web.archive.org] Spondyloepiphyseal Dysplasia - Spondyloepimetaphyseal Dysplasia The clinical findings in DEEC are: Disproportionate dwarfisms (with short spine, kyphoscoliosis, pectus carinatus), genu valgum, etc. [roderic.uv.es] valgum, cubitus valgus, mild brachydactyly, camptodactyly, microdontia, and normal intelligence. [ncbi.nlm.nih.gov] valgum is usually present; - Cervical Spine: - atlantoaxial instability : - may occur due to odontoid hypoplasia or os odontoideum ; - may result in cervical myelopathy; [wheelessonline.com] Craniometadiaphyseal Dysplasia Most patients present with mild genu valgum. The elbows are unable to extend fully. There may be widening of the lower femora and clavicles. [en.wikipedia.org] Affected people are clinically normal, apart from genu valgum, although scoliosis and bone fragility occasionally occur. [merckmanuals.com] Metaphyseal dysplasia, also known as Pyle's disease, is a rare recessive bone dysplasia characterised by genu valgum, metaphyseal anomalies with broadening of the long bones [blueprintgenetics.com] Homocystinuria Although patients with homocystinuria may present to the orthopaedic surgeon with osteoporosis, severe genu valgum or scoliosis, the disease is an uncommon cause of these [online.boneandjoint.org.uk] valgum, pectus carinatum, long extremities, arachnodactyly, and dilatation with thrombosis of medium sized arteries and veins. 3. [ajronline.org] Skeletal changes include genu valgum and pes cavus, followed by dolichostenomelia, pectus excavatum or carinatum and kyphosis, or scoliosis and osteoporosis. [orpha.net] Mucopolysaccharidosis Type 1 valgum, short stature, spinal curvature, odontoid hypoplasia, ligamentous laxity, and atlantoaxial instability MPS IV (mild) – Much slower progression of skeletal dysplasia [emedicine.medscape.com] Bone deformities like kyphosis or gibbus, scoliosis, genu valgum, pes cavus have been described and may cause gait disturbances. [symptoma.com] […] with severely disturbed social behavior MPS IV (severe) – Orthopedic involvement (eg, spondyloepiphyseal dysplasia) as the primary finding; preservation of intelligence; genu [emedicine.medscape.com] Familial Hypophosphatemia In infants and children, the signs and symptoms include: Abnormal "waddling" walk due to knock-knees (genu valgum) or bowed legs (genu varum) Thick wrists Ribs of the chest [dovemed.com] Chronic and more severe forms of hypophosphatemia present with bone pain, osteomalacia and pseudofractures, rachitis-like characteristics (genu valgum, frontal bossing, widening [symptoma.com] Mucopolysaccharidosis Type 6 MIM*253200] an error of mucopolysaccharide metabolism characterized by excretion of dermatan sulfate in the urine, growth retardation, lumbar kyphosis, sternal protrusion, genu [medical-dictionary.thefreedictionary.com] […] abnormalities include hypoplastic bones, hip dysplasia, pectus carinatum, genu valgum, and kyphoscoliosis. [symptoma.com] A 7-year-old girl with Morquio syndrome and typical severe genu valgum. Courtesy of Dennis P. Grogan, MD. [emedicine.medscape.com] Rickets Abstract A 16-year-old boy with widening of the large joints of the extremities and bilateral genu valgum had been extensively treated with oral vitamin D, with little clinical [ncbi.nlm.nih.gov] Rickets was diagnosed in a 12-year-old girl presenting with short stature, genu valgum, eversion deformity at the ankle joints, and flat feet. [ncbi.nlm.nih.gov] Home Internal Medicine Rickets Photos Dermatology Orthopedics Surgery Pediatrics Click on photos for enlarged view Knock knee deformity (genu valgum) Windswept deformity of [thachers.org] Ellis-Van Creveld Syndrome Clinical features were: a marked acromesomelic short stature (135 cm height), narrow thorax, genu valgum, club feet, brachydactyly, malposed toes, hypoplastic nails and teeth [ncbi.nlm.nih.gov] Bilateral genu valgum with flat feet. The diagnosis of Ellis Van Creveld syndrome was made based on the above features. [tropicalgastro.com] Keywords : Ellis Van Creveld Syndrome; Polydactyly; Dwarfism; Heart Congenital Defects; Genu Valgum; Diastema. [scielo.org.co] Mucopolysaccharidosis valgum, waddling gait, and laxity of joints. [ncbi.nlm.nih.gov] Abstract A 16-year-old boy with widening of the large joints of the extremities and bilateral genu valgum had been extensively treated with oral vitamin D, with little clinical [ncbi.nlm.nih.gov] valgum, short stature, spinal curvature, odontoid hypoplasia, ligamentous laxity, and atlantoaxial instability MPS IV (mild) – Much slower progression of skeletal dysplasia [emedicine.medscape.com] Cartilaginous Exostosis […] pronation; - ulnar lengthening: - Knee Joint in MED: - leg length inequality may require equalization procedures in 50%; - fibular involvement by osteochondroma may cause: genu [wheelessonline.com] Genu valgum (commonly known as "knock-knees"), ankle valgus, and bowing and shortening of one or both of the forearm bones are common manifestations. [5] Types [ edit ] Buccal [en.wikipedia.org] Inheritance Autosomal recessive Clinical Features No clinical implication except incidence of genu valgum with thickening medial end of clavicles, pubis and ischium, some [flinders.edu.au] Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome valgum Limitation of joint mobility Macroorchidism Strabismus Hypotelorism Abnormality of the abdominal wall Abnormality of the thyroid gland Prematurely aged appearance [mendelian.co] The patients of SMS have a short trunk, dwarfism, a striking barrel-shaped chest, sternal protrusion, kyphoscoliosis, and various distal deformities, including genu valgum [jiaomr.in] […] varum) and ‘knock knees’ (genu valgum). [rarediseases.org] Mucopolysaccharidosis Type 7 valgum).Rarely, spinal malformations may be present including mild curvature of the spine from side to side (scoliosis) and/or front to back (kyphosis). [rarediseases.org] valgum, hypermobile joints Waddling gait with frequent falls Qualitative urine glycosaminoglycan (GAG) analysis demonstrates keratan sulfate and chondroitin 6-sulfate. [centogene.com] A 7-year-old girl with Morquio syndrome and typical severe genu valgum. Courtesy of Dennis P. Grogan, MD. [emedicine.medscape.com] Hereditary Multiple Exostoses Genu valgum and ankle valgus may be seen. [orthopaedicsone.com] Genu valgum occurs in about a third of the patients. Pedunculated osteochondromas carry a risk of fracture in the region of the stalk. [symptoma.com] […] pronation; - ulnar lengthening: - Knee Joint in MED: - leg length inequality may require equalization procedures in 50%; - fibular involvement by osteochondroma may cause: genu [wheelessonline.com] Mucopolysaccharidosis Type 2 valgum, usually hepatosplenomegaly, and no mental retardation; onset occurs after 2 years of age. [drugs.com] It is characterised by excretion of dermatan sulfate in the urine, growth retardation, lumbar kyphosis, sternal protrusion, genu valgum, usually hepatosplenomegaly, and no [kmle.co.kr] valgum. [novapublishers.org] Beta Thalassaemia Major Untreated or poorly transfused patients show growth retardation, pallor, jaundice, poor musculature, genu valgum, leg ulcers, formation of masses due to extramedullary hematopoiesis [orpha.net] Some individuals may develop ‘knock knees’ (genu valgum), a condition in which the legs bend inward so that when a person is standing the knees will touch even if the ankles [rarediseases.org] In uncomplicated cases, skeletal deformities include genu valgum, frontal bossing, malar bone prominence, depression of the nasal bridge, and maxillae hypertrophy. [symptoma.com] Genu valgum St Helena Familial Helena familial genu valgum This disorder is characterized by severe post-pubertal genu valgum. [en.wikipedia.org] Helena familial genu valgum; Genu valgum, hereditary pubertal; Severe 'knock-knees' and variable lesser malalignment at the elbows and wrists; St. [rarediseases.info.nih.gov] MalaCards integrated aliases for Genu Valgum, St. Helena Familial: Name: Genu Valgum, St. [malacards.org] Autosomal Recessive Hypophosphatemic Rickets Type 2 Abnormality of head or neck Carious teeth Hypoplasia of teeth Abnormality of limbs Coxa valga Genu valgum Genu varum Abnormality of metabolism/homeostasis Hyperphosphaturia [ncbi.nlm.nih.gov] [rarediseases.org] Genu Valgum [rarediseases.org] Genu Valgum Genu valgum can develop due to skeletal and joint dysplasias (e.g., OSTEOARTHRITIS; HURLER SYNDROME); and malnutrition [symptoma.com] [rarediseases.org] Genu Valgum [rarediseases.org] Genu Valgum [rarediseases.org] Genu Valgum Genu valgum can develop due to skeletal and joint dysplasias (e.g., OSTEOARTHRITIS [symptoma.co.za] Komuragaeri Disease […] varus, right sided genu valgum; (i v ) and delayed bone age. [indianpediatrics.net] Percent of people who have these symptoms is not available through HPO Alopecia Hair loss 0001596 Diarrhea Watery stool 0002014 Fatigue Tired Tiredness [ more ] 0012378 Genu [rarediseases.info.nih.gov] There was total alopecia, generalized wasting, pallor, bowing of lower limbs with genu valgum and pes planus. [indianpediatrics.net] Vitamin D Deficiency valgum Wellcome L0062567.jpg 3,653 × 5,213; 2.97 MB Glisson.jpg 1,000 × 1,846; 191 KB Great deformity of the legs due to rickets Wellcome L0062562.jpg 3,099 × 6,443; 3.76 [commons.wikimedia.org] However, severe vitamin D deficiency may manifest as rickets with the below clinical features: Bony Signs - Swelling of wrists and ankles - Leg deformities (genu varum or [starship.org.nz] Female dwarf, the result of rickets, c. 1912 Wellcome L0033871.jpg 2,508 × 3,870; 2.45 MB Girl with continued rickets Wellcome L0062566.jpg 3,474 × 5,298; 2.59 MB Girl with genu [commons.wikimedia.org] Carpenter-Waziri Syndrome Diseases related with Wide nasal bridge and Genu valgum In the following list you will find some of the most common rare diseases related to Wide nasal bridge and Genu valgum [mendelian.co] valgum ; High palate ; Hyperactivity ; Hyperreflexia ; Hypertelorism ; Hypogonadism ; Hypoplastic philtrum ; Hypospadias ; Infantile muscular hypotonia ; Intellectual disability [mousephenotype.org] Additional skeletal abnormalities such as deformed hips, a rounded upper back that also curves to the side ( kyphoscoliosis ), and knees that are angled inward (genu valgum [ghr.nlm.nih.gov] Autosomal Recessive Osteopetrosis Type 3 Affiliated tissues include bone, bone marrow and eye, and related phenotypes are genu valgum and mandibular prognathia Disease Ontology : 12 An osteopetrosis characterized [malacards.org] valgum Knock knees 0002857 Global developmental delay 0001263 Hepatomegaly Enlarged liver 0002240 Intellectual disability Mental deficiency Mental retardation Mental retardation [rarediseases.info.nih.gov] […] hemoglobin 0001903 Avascular necrosis Death of bone due to decreased blood supply 0010885 Bone pain 0002653 Failure to thrive Faltering weight Weight faltering [ more ] 0001508 Genu [rarediseases.info.nih.gov] Alpha-Mannosidosis Epiphyseal arthrodesis, for instance, is generally recommended to reduce the consequences of genu valgum. [symptoma.com] Genu valgum deformity can be treated with epiphyseal stapling in growing children, but must be performed early to be effective [ 23 ]. [ojrd.com] Coarse facial features and skeletal abnormalities such as scoliosis, kyphosis, pectus carinatum, genu valgum, and pes equinus may be noted at birth. [symptoma.com] Cohen Syndrome Various other musculoskeletal deformities may be seen, including cubitus valgus, genu valgum, pes planovalgus, kyphosis, scoliosis, ligamentous laxity, and articular hypermobility [cureus.com] Osteomalacia Bowing of the legs (genu varum) is typical, but knock knees (genu valgum) can also occur. [patient.info] Spondyloepimetaphyseal Dysplasia Type Geneviève […] varum, genu valgum and valgum deformities at the distal tibia. [intechopen.com] […] varum) and ‘knock knees’ (genu valgum). [rarediseases.org] valgum Mosaic trisomy 14 Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease Dystelephalangy Microphthalmia syndromic 8 Acheiropody Short stature deafness neutrophil [checkrare.com] Spondyloepimetaphyseal Dysplasia Type Shohat […] dysplasia with severe genu valgum; spondylometaphyseal dysplasia, algerian type Related symptoms: Autosomal dominant inheritance Short stature Myopia Severe short stature [mendelian.co] SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE Is also known as spondylometaphyseal dysplasia, schmidt type, spondylometaphyseal dysplasia with severe genu valgum;spondylometaphyseal [mendelian.co] valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet. [mendelian.co] Marfan Syndrome valgum, facial features and supportive devices (splints and wheelchair) were addressed. [bmcpediatr.biomedcentral.com] Clinical features such as tall stature, low body weight, long and slender limbs, arachnodactyly, hypermobility, scoliosis, pectus excavatum and carinatum, pes planus, genu [bmcpediatr.biomedcentral.com]
