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429 Possible Causes for Dysmorphic Face, Joint Stiffness, Progressive Contractures

  • Congenital Muscular Dystrophy

    We report the first known Egyptian patient with FCMD, established by clinical features of generalized weakness, pseudohypertrophy of calf muscles, progressive joint contractures[ncbi.nlm.nih.gov] CMD results in overall muscle weakness with possible joint stiffness or looseness.[mda.org] In some of the patients, facial dysmorphism was also reported: the forehead was high and prominent with a wide fontanel, the mid-face was flat, and the nose and filtrum short[doi.org]

  • Mucopolysaccharidosis 2

    Flexion contractures. Progressive deafness - usually mixed sensorineural/conductive variety.[patient.info] Bone and joint involvement leads to skeletal deformities and joint stiffness.[symptoma.com] Mucopolysaccharidosis II affects multiple organs and physiologic systems and has a variable age of onset and variable rate of progression.[pediatrics.aappublications.org]

  • Mucopolysaccharidosis

    ; hip containment surgeries; corrective osteotomy for progressive valgus deformity at the knee; posterior spinal fusion Multispecialty care is mandatory for these patients[emedicine.medscape.com] This results in permanent, progressive cellular damage which affects the appearance, physical abilities, organ and system functioning and, in most cases, mental development[omicsonline.org] […] hepatosplenomegaly, dysostosis multiplex, short stature, coarse facial features, corneal clouding, joint contractures, umbilical hernias, failure to thrive, intellectual[surgicalneurologyint.com]

  • Mucopolysaccharidosis 1

    Progressive upper airway disease leads to obstructive sleep apnoea.[patient.info] stiffness The cause of MPS I is inherited genetic mutations on chromosome 4 that leads to deficiency in the lysosomal enzyme a-L-iduronidase.[medicinenet.com] ; hip containment surgeries; corrective osteotomy for progressive valgus deformity at the knee; posterior spinal fusion Multispecialty care is mandatory for these patients[emedicine.medscape.com]

  • Mucopolysaccharidosis 3

    Coarse facies, mild dysostosis multiplex, hepatosplenomegaly and joint contractures may also be present.[genedx.com] stiffness, vertebral bodies and hypertrichosis.[phoenixnestbiotech.com] Progressive abnormal development of all bones of the body (dysostosis multiplex) occurs in all children with Hurler syndrome.[encyclopedia.com]

  • Mucopolysaccharidosis 1H

    The two patients with graft failure (patients 14 and 15) experienced progressive contractures in almost all joints.[ojrd.biomedcentral.com] Joint stiffness: Joint stiffness occurs by the age of 2 years and is progressive. There is a characteristic claw-hand deformity due to phalangial dysostosis.[symptoma.com] (enlargement of the liver and spleen), valvular heart defects, thick skin, joint contractures, and hernias.[medicinenet.com]

  • Mucopolysaccharidosis 6

    , hirsutism, joint contractures, hepatosplenomegaly, short stature, and skeletal, respiratory, and cardiac abnormalities, with a characteristic pattern of a chronic and progressive[scielo.br] The major clinical manifestations are corneal clouding, joint stiffness, and a skeletal dysplasia known as dysostosis multiplex.[egl-eurofins.com] The face is dysmorphic with coarse features. Bone dysplasia and facial dysmorphism may be seen at birth.[disorders.eyes.arizona.edu]

  • Schwartz-Jampel Syndrome

    Over the following one to three years, progressive myotonia of the muscles and resulting joint contractures develop.[checkorphan.org] Limited joint mobility leads to an unsteady gait. Joint stiffness is progressive, reaching its peak during adolescence.[orpha.net] The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature[advbiores.net]

  • Arthrogryposis Multiplex Congenita

    Abstract Arthrogryposis multiplex congenita (AMC) is a rare disorder characterized by non-progressive, multiple contractures.[ncbi.nlm.nih.gov] Arthrogryposis multiplex congenita (AMC) is a complex disorder that leads to joint stiffness and deformities in 2 or more joints in afflicted children.[ncbi.nlm.nih.gov] […] features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios[orpha.net]

  • Mucopolysaccharidosis 4

    Progressive upper airway disease leads to obstructive sleep apnoea.[patient.info] stiffness and kyphoscoliosis.[ggc.org] Compared to other MPS types, the majority of patients with MPS IVA face a severe dysmorphic stature with predominantly skeletal problems [ 3 ].[journals.plos.org]

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