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1,460 Possible Causes for Elbow Contracture, Pallor of Optic Disc, 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] (Also known as/Synonyms) Atrophic Optic Nerve Optic Disc Pallor Excessive Optic Neuropathy What is Optic Nerve Atrophy?[dovemed.com]

  • 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]

    Missing: Pallor of Optic Disc
  • 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] […] of optic disc, cataracts AD, AR, XLR Numerous Multiple RETINOBLASTOMA Leukcoria, strabismus, retinal detachment, glaucoma, pseudouveitis, proptosis, hyphema, orbital cellulitis[eyewiki.aao.org]

  • 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] disc pallor Elevated hepatic transaminase Macroglossia Round face Aciduria Coma Death in infancy Prominent forehead Bifid first metacarpal Flat face Heterogeneous Malabsorption[mendelian.co]

  • Kaufman Oculocerebrofacial Syndrome

    ; [Spine]; Hemivertebrae; [Pelvis]; Blount osteochondritis dissecans; Aseptic femoral necrosis; Coxa valga/vara; [Limbs]; Aplastic or hypoplastic patellae; Elbow dislocation[findzebra.com] disc pallor 0000543 Ovoid vertebral bodies 0003300 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Single transverse palmar crease 0000954 Sparse and[rarediseases.info.nih.gov] disc pallor Not very common - Between 30% and 50% cases Microdontia Commonly - More than 50% cases Specific learning disability Not very common - Between 30% and 50% cases[mendelian.co]

    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: Pallor of Optic Disc 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: Pallor of Optic Disc Round Face in Infancy
  • Rigid Spine Syndrome

    […] flexion contracture Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Hamstring contractures 0003089 Hip contracture 0003273 Hyperlordosis Prominent[rarediseases.info.nih.gov] Severe congenital myopia, congenital glaucoma, pallor of the optic discs, and retinal hypoplasia 2.[ncbi.nlm.nih.gov] No significant vertebral column abnormsality developed, but a mild thoracolumbar scoliosis, slight flat thorax and mild bilateral elbow contractures were seen. Case 2.[scielo.br]

    Missing: 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: Pallor of Optic Disc
  • Joint Contracture

    Reoperation was performed in 5 of 25 subjects; in 3 of which, this was because of elbow joint contracture.[ncbi.nlm.nih.gov] He developed craniosynostosis, craniofacial dysmorphism, hydrocephalus, and bilateral contracture of his elbow joints.[ncbi.nlm.nih.gov] Symptoms of Elbow Contracture include the following: Stiffness of the elbow Inability to fully extend or flex the arm Usually no pain is associated with elbow contractures[ypo.education]

    Missing: Pallor of Optic Disc Round Face in Infancy

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