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13 Possible Causes for Elbow Contracture, Onset in Early Infancy, Round Face in Infancy

  • Cold-Induced Sweating Syndrome Type 1

    Onset of FCAS occurs during infancy and early childhood and persists throughout the patient's life.[rarediseases.org] He has bilateral elbow and bilateral finger contractures.[neurology.org] face in infancy Anteverted nares (upturned nose) Low-set ears Puckered chin Short neck Pursed lips (see photos); may resolve with time Blepharospasm (sustained, forced closing[forgottendiseases.org]

  • Congenital Non-Progressive Ataxia

    Early onset partial aniridia, cerebellar ataxia, and mental retardation are hallmark of syndrome.[en.wikipedia.org] […] arachnodactyly Congenital diaphragmatic hernia Congenital disorder of glycosylation Congenital dyserythropoietic anemia Congenital dyserythropoietic anemia type IV Congenital elbow[sanfordresearch.org] Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu]

  • Autosomal Recessive Distal Osteolysis Syndrome

    Onset after exposure to cold or cooling temperatures. [38] [39] Neonatal/early infancy.[autoinflammatory-search.org] […] flexion contracture Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Intellectual disability Mental deficiency Mental retardation Mental retardation[rarediseases.info.nih.gov] […] disability, severe Feeding difficulties in infancy Highly arched eyebrow Apnea Failure to thrive Cataract Short stature Congenital cataract Lumbar hyperlordosis Autosomal[mendelian.co]

  • X-Linked Lethal Multiple Pterygium Syndrome

    Incontinentia Pigmenti (IP) Infantile Neuroaxonal Dystrophy 1 Inflammatory Bowel Disease, Early-onset (IBD28) IPEX Syndrome (Immunodeficiency, Polyendocrinopathy and Enteropathy[healthlawcentral.com] It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia) of the neck, elbows, back of the knees[diseaseinfosearch.org] face Death in infancy Pulmonic stenosis Severe global developmental delay Broad forehead Congestive heart failure Ventricular septal defect Hepatomegaly Meningocele Cystic[mendelian.co]

  • Cold-Induced Sweating Syndrome Type 2

    Onset after exposure to cold or cooling temperatures. [38] [39] Neonatal/early infancy.[autoinflammatory-search.org] […] of the elbows.[nature.com] face in infancy Anteverted nares (upturned nose) Low-set ears Puckered chin Short neck Pursed lips (see photos); may resolve with time Blepharospasm (sustained, forced closing[forgottendiseases.org]

  • Eye Defects - Arachnodactyly - Cardiopathy Syndrome

    Onset is late childhood/early adulthood. Congenital muscular dystrophy presents with muscle weakness that begins in infancy or very early childhood.[bertsbigadventure.org] […] develop during childhood (especially of elbows, hands and feet) -joint laxity-progressive No joint contractures , joint laxity limited to hands and feet Contractures not[fetalultrasound.com] Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu]

  • Ehlers-Danlos Syndrome Type Beasley-Cohen

    […] of fractures in infancy or early childhood, postnatal short stature, severe limb deformity, and progressive scoliosis ( McPherson and Clemens, 1997 ).[mendelian.co] (joints of the knee, hip and elbow); and hypermobility of distal joints (joints of the ankles, wrists, feet and hands). [38] Periodontal EDS (pEDS) characterized by severe[en.scio.pw] Major criteria are: Congenital muscle hypotonia, and/or muscle atrophy, that improves with age; Proximal joint contractures (knee, hip and elbow); and Hypermobility of distal[ehlers-danlos.com]

  • Cardiomyopathy - Cataract - Hip Spine Disease Syndrome

    Onset after exposure to cold or cooling temperatures. [38] [39] Neonatal/early infancy.[autoinflammatory-search.org] Contractures of the hip, knee, ankles, and elbows are common findings within the first year of life.[rarediseases.org] face Epicanthus Prominent nose Decreased fetal movement Epiphyseal stippling Secundum atrial septal defect Perimembranous ventricular septal defect Generalized neonatal hypotonia[mendelian.co]

  • Myopia Type 23

    […] with hypotonia, hepatomegaly, nonketotic hypoglycaemia and metabolic acidosis and usually die early in infancy.[annalsofian.org] […] of the hip, elbows and knees, ulnar deviation of the hands, radial deviation of the thumbs, short broad thumbs, proximally placed thumbs, adducted thumbs (positional), 1[ojrd.biomedcentral.com] […] and present when entering school. prevalence is about 2%. • 2-Youth-onset myopia: • The onset of myopia occurs between 6 years of age and the early teens .from 2% at 6 years[slideshare.net]

  • Autosomal Dominant Mental Retardation Type 5

    […] at birth or early infancy; Variable severity; De novo mutation MOLECULAR BASIS: Caused by mutation in the purine-rich element-binding protein A gene (PURA, 600473.0001) Clinical[findzebra.com] Affected individuals also have distinctive facial features, including widely set eyes (hypertelorism), low-set ears, a small jaw, and a rounded face.[tsbvi.edu] (25%); [Limbs]; Elbow contractures (86%); Knee contractures (81%); Subluxation of patella; [Hands]; Arachnodactyly; Camptodactyly; Ulnar deviation of fingers; Adducted thumbs[findzebra.com]

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