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45 Possible Causes for Cognitive Developmental Delay, Congenital Clubfoot, Patellar Dislocation

  • Ehlers Danlos Syndrome

    Other problems related to the joint hypermobility are joint instability, foot deformities such as congenital clubfoot or pes planus, temporomandibular joint dysfunction, joint[nature.com] delay.[ncbi.nlm.nih.gov] […] dislocation of the hips Talipes equinovarus (clubfoot)[web.archive.org]

  • Alpha-Mannosidosis

    View Article PubMed Google Scholar Hale SS, Bales JG, Rosenzweig S, Daroca P, Bennett JT: Bilateral patellar dislocation associated with alpha-mannosidase deficiency.[ojrd.com] Physical findings: Cognitive and motor developmental delay, or intellectual disability; hepatosplenomegaly (enlargement of the liver and spleen), large head, protruding forehead[secure.ssa.gov] Patellar bilateral dislocation and severe synovial hypertrophy have also been described along with Charcot elbow and bilateral hip and elbow avascular necrosis in one patient[ojrd.com]

  • Nail-Patella Syndrome

    Five of them required surgical treatment due to patellar dislocation and three patients were not treated.[ncbi.nlm.nih.gov] Orthopedic surgery may be necessary for congenital clubfoot deformity. Manipulation or surgery may be required to correct hip dislocation.[healthofchildren.com] Developmental progress was normal with only the expected gross motor delay associated with achondroplasia. Cognitive function was normal.[doi.org]

  • Skeletal Dysplasia

    Skeletal findings include patellar dislocation, short tubular bones, mild metaphyseal changes, brachymetacarpalia with stub thumbs, short femoral necks, shallow acetabular[ncbi.nlm.nih.gov] clubfoot and digital deformities, especially the thumb in permanent abduction, facilitates recognition of this pathological condition.[scielo.br] , normal to blue sclera, congenital joint contractures Shortened life span FLNA Frontometaphyseal dysplasia; terminal osseous dysplasia; otopalatodigital syndrome types I[arupconsult.com]

  • Agenesis of the Corpus Callosum and Congenital Lymphedema

    dislocation Hypertropia Frontoparietal polymicrogyria Abnormally low-pitched voice Preauricular pit Increased upper to lower segment ratio Prominent umbilicus Mask-like facies[mendelian.co] VASILESCU, Dana; VALEANU, Madalina; COSMA, Dan // Applied Medical Informatics; Mar2014, Vol. 34 Issue 1, p57 The idiopathic clubfoot represents a congenital deformation incorporating[connection.ebscohost.com] In this study, we report a 2-year-2-month-old boy with global developmental delay, cognitive impairment, multiple congenital anomalies and behavior problems who carried a[molecularcytogenetics.biomedcentral.com]

  • Wolcott-Rallison Syndrome

    NO Hypoplasia of the capital femoral epiphysis NO Exercise-induced muscle cramps NO Recurrent patellar dislocation NO Short middle phalanx of finger NO Irregular femoral[playground.phenotips.org] Certain malformations such as clubfoot or cleft palate can be present at birth (congenital). rMED is caused by mutations in the SLC26A2 gene.[rarediseases.org] […] gastric emptying NO Achalasia Genitourinary NO Bifid scrotum NO Hypoplastic labia majora Behavior, Cognition and Development Global developmental delay Neurological NO Progressive[playground.phenotips.org]

  • Verheij Syndrome

    Curly eyelashes Motor delay Cleft palate Irregular epiphyses Delayed skeletal maturation Broad hallux Micropenis Microtia Hypoplasia of the maxilla Thick vermilion border Patellar[mendelian.co] clubfoot Cleft palate with ankyloglossia Warsaw breakage syndrome Tuberous sclerosis complex (TSC) Schinzel-Giedion midface retraction syndrome Growth retardation, developmental[csirnotes.com] Comparison of our patients with the six previously published for whom data are available ( Table 1 ) suggests that short stature, relative microcephaly and developmental/cognitive[nature.com]

  • Familial Congenital Nasolacrimal Duct Obstruction

    Bone fractures are common and patellar dislocations can be present as seen in the first two decades of life. Hypotonia is a feature.[disorders.eyes.arizona.edu] Common Musculoskeletal Findings in Young Children, the most commonsevere congenital foot deformity istalipes equinovarus (talipes calca-neovalgus), or clubfoot Finally, most[quizlet.com] Lower Leg – genu valgum, patellar dislocation Feet – planovalgus, metatarsus primus varus, hallux valgus.[medicalhomeportal.org]

  • Multiple Congenital Anomalies

    Lateral dislocation of the patella is reported frequently in orthopaedics references but congenital medial patellar dislocation is reported rarely.[ncbi.nlm.nih.gov] They may involve only a single, specific site (eg, cleft lip, cleft palate, clubfoot) or be part of a syndrome of multiple congenital anomalies (eg, velocardiofacial syndrome[merckmanuals.com] Global developmental delay (GDD) is defined as a significant delay in two or more developmental domains: gross or fine motor, speech/language, cognitive, social/personal and[ncbi.nlm.nih.gov]

  • Congenital Absence of Thigh and Lower Leg with Foot Present

    Patellar subluxation and dislocation - this is a congenital disorder usually treated by immobilisation; surgery is considered if chronic.[patient.info] (Clubfoot).[journals.plos.org] In some cases, idiopathic hypotonia resolves within the first few years of childhood, though minor cognitive impairments or developmental delays may persist. 5 Hypotonia caused[lermagazine.com]

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