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34 Possible Causes for Elbow Contracture, Round Face in Infancy

  • Cold-Induced Sweating Syndrome Type 1

    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] […] of the elbows.[nature.com]

  • Weaver Syndrome

    […] of the hand 0009473 Kyphosis Hunched back Round back [ more ] 0002808 Limited elbow extension Decreased elbow extension Elbow limited extension Limitation of elbow extension[rarediseases.info.nih.gov] […] hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Hydrocele testis 0000034 Hypertonia 0001276 Hypoplastic iliac wing 0002866 Inverted nipples 0003186 Joint contracture[rarediseases.info.nih.gov]

  • Baraitser-Winter Syndrome 1

    contractures were initially regarded as sufficient by Rivière et al 1 to clinically exclude BRWS in two patients previously assigned to FAS.[ncbi.nlm.nih.gov] The face is round and flat in infancy.[ncbi.nlm.nih.gov] The median part of the face is broad with a wide nasal base and marked hypertelorism (39/41–95%).[doi.org]

  • Familial Hypospadias

    […] 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] In infancy, there are excess nuchal skin, a rounded skull shape, a sparse fine hair and a puffy anterior neck; the face is square shaped with high forehead, frontal bossing[ojrd.biomedcentral.com] […] bones, pectus excavatum, pectus carinatum, superior pectus carinatum/inferior pectus excavatum, scoliosis, genu valgus, recurrent non-traumatic patellar dislocation, mild contractures[ojrd.biomedcentral.com]

  • Optic Atrophy-Intellectual Disability Syndrome

    contracture Abnormal tibial torsion Hand dysfunction Kyphosis Lordosis Scoliosis Femoral retroversion Torticollis Hip dysplasia Hip contractures Hallux valgus Knee contractures[pediatrics.aappublications.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] One of the three children had thoracic scoliosis contractures of the elbows and knees, and clubfoot.[rarediseases.org]

  • Mowat-Wilson Syndrome

    […] 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] In infancy, there are excess nuchal skin, a rounded skull shape, a sparse fine hair and a puffy anterior neck; the face is square shaped with high forehead, frontal bossing[ojrd.biomedcentral.com] […] bones, pectus excavatum, pectus carinatum, superior pectus carinatum/inferior pectus excavatum, scoliosis, genu valgus, recurrent non-traumatic patellar dislocation, mild contractures[ojrd.biomedcentral.com]

  • Cole-Carpenter Syndrome

    Nevus Syndactyly Hip contracture Low-set, posteriorly rotated ears Arthrogryposis multiplex congenita Elbow flexion contracture Knee flexion contracture Hemivertebrae Abnormal[mendelian.co] Round face Wide anterior fontanel Rhizomelia Coxa vara Relative macrocephaly Thoracolumbar scoliosis Feeding difficulties Breech presentation Lumbar scoliosis Dentinogenesis[mendelian.co] […] appearance Short neck Ventriculomegaly Cerebellar atrophy High forehead Dandy-Walker malformation Low anterior hairline Spina bifida Plagiocephaly Anterior plagiocephaly Flexion contracture[mendelian.co]

  • Non-Syndromic Aplasia Cutis Congenita

    […] eyelashes Knee flexion contracture Short long bone Elbow flexion contracture Bowing of the long bones Short thumb Chorea Colpocephaly Opacification of the corneal stroma[mendelian.co] face Aciduria Coma Death in infancy Prominent forehead Bifid first metacarpal Flat face Heterogeneous Malabsorption Areflexia Posteriorly rotated ears Glaucoma Jaundice Pulmonary[mendelian.co] Multiple joint contractures Cortical gyral simplification Sparse and thin eyebrow Prominent occiput Femoral bowing Preaxial polydactyly Diabetes insipidus Lissencephaly Sparse[mendelian.co]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    There may be hyperextensibility of wrist and interphalangeal joints but contractures of elbow and knee.[nature.com] 50–65 ASD, VSD, PDA, LSVC, aortic atresia, dextrocardia, TOF, tricuspid atresia 22, 154 Deletion 5p (cri-du-chat) Catlike cry, prenatal and postnatal growth retardation, round[circ.ahajournals.org] face, widely spaced eyes, epicanthal fold, simian crease, severe mental retardation, long survival 30–60 VSD, ASD, PDA 22, 155, 156 Deletion 7q11.23 (Williams-Beuren syndrome[circ.ahajournals.org]

  • Goldberg-Shprintzen Syndrome

    […] 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] In infancy, there are excess nuchal skin, a rounded skull shape, a sparse fine hair and a puffy anterior neck; the face is square shaped with high forehead, frontal bossing[ojrd.biomedcentral.com] […] bones, pectus excavatum, pectus carinatum, superior pectus carinatum/inferior pectus excavatum, scoliosis, genu valgus, recurrent non-traumatic patellar dislocation, mild contractures[ojrd.biomedcentral.com]

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