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177 Possible Causes for Congenital Clubfoot, Cutis Laxa, Strabismus

  • Ehlers Danlos Syndrome

    KEYWORDS: ATP6V0A2-related cutis laxa; Ehlers-Danlos-like skin lesions; autosomal recessive cutis laxa; type 2A (ARCL2A)[] […] dislocation of the hips Talipes equinovarus (clubfoot)[] During follow-up at 18 months of age, strabismus, umbilical hernia, kyphoscoliosis, joint laxity, bilateral hip dislocation, muscular hypotonia, and motor developmental delay[]

  • Dermatosparaxis

    ., bladder rupture, diaphragmatic rupture, rectal prolapse) Delayed motor development Osteopenia Hirsutism Tooth abnormalities Refractive errors (myopia, astigmatism) Strabismus[] Redundancy of the facial skin results in an appearance resembling cutis laxa; however, bruising and skin fragility are not manifestations of cutis laxa.[] […] dislocation of the hips Talipes equinovarus (clubfoot) Gingival recession 3.[]

  • Congenital Disorder of Glycosylation Type 2

    Predominant neurological signs and symptoms are psychomotor retardation, epilepsy, hypotonia, hyporeflexia, strabismus, retinitis pigmentosa, polyneuropathy, myopathy, and[] Autosomal recessive cutis laxa Type II: Report of novel mutation in a child.[] Disorders of Glycosylation (CDGs) Q96EU7 CHST14 Ehlers-Danlos syndrome, musculocontractural type Adducted thumb and clubfoot syndrome Congenital Disorders of Glycosylation[]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    3; SLI3 OMIM:612514 Specific Language Impairment 4; SLI4 OMIM:615432 Specific Language Impairment 5; SLI5 OMIM:182875 Speech Development, Delayed, with Facial Asymmetry, Strabismus[] FBLN5 Cutis laxa type 2A, autosomal recessive ATP6V0A2 Cutis laxa type 2B, autosomal recessive PYCR1 Cutis laxa type 3A, autosomal recessive ALDH18A1 Cutis laxa type 3B,[] clubfoot Cleft palate with ankyloglossia Warsaw breakage syndrome Tuberous sclerosis complex (TSC) Schinzel-Giedion midface retraction syndrome Growth retardation, developmental[]

  • Brittle Cornea Syndrome

    A practical "how to" perform strabismus surgery chapter with extensive step-by-step artworks for complete visual guidance.[] laxa ; Red hair ; Scoliosis ; Spondylolisthesis ; Visual loss Associated Genes ZNF469 (Withdrawn symbols: KIAA1858 ) Mouse Orthologs Zfp469 (Withdrawn symbols: Gm22 ) Source[] Congenital multiple contractures, characteristically adduction-flexion contractures and/or talipes equinovarus (clubfoot); 2.[]

  • Hyperextensible Joints

    […] ophthalmology and strabismus.[] Type IX - X-linked cutis laxa Type IX, or X-linked cutis laxa , is rare and inherited in an X-linked recessive pattern.[] Neonates may present with clubfoot and/or congenital dislocation of the hips.[]

  • Short stature-Valvular Heart Disease-Characteristic Facies Syndrome

    Both were mentally retarded and had large mouths, patulous lips, small chins, baggy cheeks, blunt upturned noses, wide-set eyes, left internal strabismus, and malformed teeth[] Tests Available Supravalvular Aortic Stenosis / Autosomal Dominat Cutis Laxa (ELN) Cutis Laxa Panel Forms and Documents Test Details Clinical Utility: Confirmation of a clinical[] […] heart disease syndrome Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome Short stature, pituitary and cerebellar defect and small sella[]

  • Acrootoocular Syndrome

    , microphthalmia, anophthalmia /AD/-/%164210 GOLTZ SYNDROME/Microphthalmia, anophthalmia, strabismus, coloboma, aniridia, ectopia lentis, optic atrophy, nystagmus /XLD/PORCN[] laxa, Debré type [ ] Autosomal recessive cutis laxa, pulmonary emphysema type [ ] Autosomal recessive cutis laxa type 1 [ ] Autosomal recessive cutis laxa type 2 [ ] Autosomal[] […] syndrome Short stature, unique facies, enamel hypoplasia, progressive joint stiffness, high-pitched voice syndrome Skull congenital deformities Smith Fineman Myers syndrome[]

  • Intestinal Pseudo - Obstruction-Patent Ductus Arteriosus - Natal Teeth

    * Cutis laxa with joint laxity and retarded development * Cutis laxa, dominant type * Cutis laxa, recessive * Cutis laxa, recessive type 2 * Cutis marmorata telangiectatica[] […] contractural syndrome H00870 Brachydactyly-syndactyly syndrome H00903 Congenital clubfoot H00929 Congenital vertical talus H00979 Caudal regression syndrome and Sirenomelia[] Other frequent ocular problems are ptosis, strabismus (58%), and refractive errors (41%) (van Genderen et al., 2000).[]

  • Ehlers-Danlos-Syndrome Type 10

    […] in 35%, amblyopia in 22% (63% of all patients with strabismus had amblyopia) and epicanthus in 13%.[] Van meereken De dilatabilitate extraordinaria cutis Observationes. Amsterdam medico-Chirurgicae, (1682), pp. 32 [4.] A. Tschernogowbow Cutis laxa mhft Prackt.[] […] dislocation of the hips Talipes equinovarus (clubfoot) Gingival recession 3.[]

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