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1,221 Possible Causes for Elbow Contracture, Poor Growth in Infancy, 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]

  • Stuve-Wiedemann Syndrome

    Deficient thyroid hormone production can result in intellectual disability in infancy and childhood and poor growth in infancy, childhood, and adolescence.[ncbi.nlm.nih.gov] Other features might be seen such as: elbow contractures, talipes valgus, spinal deformities, flared iliac wings, hypoplasia of the lower ilia, micrognathia, hypotonia and[radiopaedia.org] […] flexion contracture Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Genu valgum Knock knees 0002857 Impaired pain sensation Decreased pain sensation[rarediseases.info.nih.gov]

    Missing: Round Face in Infancy
  • 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]

  • 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] Features of this condition include Short trunk Poor growth Hydrocephalus Multiple fractures Craniofacial abnormalities Multisutural craniosynostosis Ocular proptosis Marked[en.wikipedia.org] Round face Wide anterior fontanel Rhizomelia Coxa vara Relative macrocephaly Thoracolumbar scoliosis Feeding difficulties Breech presentation Lumbar scoliosis Dentinogenesis[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] , often leading to poor growth Shorter than average height Low body tone (hypotonia) and hyperextensible joints, which may result in delayed developmental milestones such[my.clevelandclinic.org] 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]

  • Wiedemann-Steiner Syndrome

    In addition to bowed legs, affected infants can have bowed arms, permanently bent fingers and toes ( camptodactyly ), and joint deformities (contractures) in the elbows and[ghr.nlm.nih.gov]

    Missing: Round Face in Infancy
  • Emery-Dreifuss Muscular Dystrophy Type 1

    People affected with EDMD often have flexion contractures of the elbows and ankles. Elbow contractures force the elbow to remain bent at an angle.[mda.org.au] AD/Fam Rigid spine coil 1a B 15/M Contractures of elbows and Achilles tendons 1 Rod domain Del GAG 334-336 Del E112 AD/Spor Rigid spine coil 1b C 12/M Contractures of elbows[academic.oup.com] Contractures of the elbow, flexors, neck flexors, and calf muscles often occur; muscle pseudohypertrophy and mental retardation do not occur. A cardiomyopathy is common.[medical-dictionary.thefreedictionary.com]

    Missing: Poor Growth in Infancy Round Face in Infancy
  • Emery-Dreifuss Muscular Dystrophy Type 2

    AD/Fam Rigid spine coil 1a B 15/M Contractures of elbows and Achilles tendons 1 Rod domain Del GAG 334-336 Del E112 AD/Spor Rigid spine coil 1b C 12/M Contractures of elbows[academic.oup.com] Gilchrist and Leshner Contractures were present in the elbows, finger flexors, spine, and Achilles tendons.[gualdetxumbtt.club] People affected with EDMD often have flexion contractures of the elbows and ankles. Elbow contractures force the elbow to remain bent at an angle.[mda.org.au]

    Missing: Poor Growth in Infancy Round Face in Infancy
  • 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]

    Missing: Poor Growth in Infancy
  • Growth Failure

    The growth chart (panel B) shows poor growth throughout infancy and childhood.[nejm.org] (elbow, wrist, hip, knee, ankle) and different abnormalities in feet (pesplanus/cavus, toe crowding). [ 18, 21, 22 ] Clinically, similar to what is observed in other RASopathies[amhsr.org] In a kindred with a nonsense mutation affected family members had poor growth since infancy and were extremely short.[analesdepediatria.org]

    Missing: Round Face in Infancy

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