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25 Possible Causes for Elbow Contracture, Most Cases Are Sporadic, Round Face in Infancy

  • Weaver Syndrome

    Most cases are sporadic, although autosomal dominant inheritance has been reported.[diseaseinfosearch.org] […] 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] Inheritance patterns and prenatal diagnosis Inheritance patterns Most cases are sporadic mutations and occur by chance in a previously non-affected family.[contact.org.uk]

  • Baraitser-Winter Syndrome 1

    (most cases) #180860 DISORDER EYE FINDING MODE OF INHERITANCE KNOWN GENES OR CHROMOSOMAL ABNORMALITY INVOLVED MIM SYMBOL & NUMBER REFERENCE SAETHRE-CHOTZEN SYNDROME Coronal[eyewiki.aao.org] 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]

  • Familial Hypospadias

    Causes of hypospadias Most hypospadias are sporadic, without inheritance or family recurrence. For most cases, no cause can be identified.[alanjpark.com] […] 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]

  • Mowat-Wilson Syndrome

    Most cases reported so far were sporadic occurrences; however, rare cases of sibling recurrence have been cited.[ncbi.nlm.nih.gov] […] 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] […] likely autosomally recessive, whereas all patients with Mowat–Wilson syndrome so far reported have been sporadic cases.[doi.org]

  • Optic Atrophy-Intellectual Disability Syndrome

    (most cases) #180860 DISORDER EYE FINDING MODE OF INHERITANCE KNOWN GENES OR CHROMOSOMAL ABNORMALITY INVOLVED MIM SYMBOL & NUMBER REFERENCE SAETHRE-CHOTZEN SYNDROME Coronal[eyewiki.aao.org] 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]

  • Disproportionate Short Stature - Ptosis - Valvular Heart Lesions

    Most cases are sporadic B. Familial occurrences reported but rare 1. In siblings 2.[circ.ahajournals.org] There may be hyperextensibility of wrist and interphalangeal joints but contractures of elbow and knee.[nature.com] Most cases are sporadic with a negative family history, although inherited forms have been described.[eyewiki.aao.org]

  • Cole-Carpenter Syndrome

    Isolated cases have been reported from Asia and other Arab countries. Though patterns of inheritance have been identified, most cases result from sporadic mutation.[emedicine.medscape.com] Nevus Syndactyly Hip contracture Low-set, posteriorly rotated ears Arthrogryposis multiplex congenita Elbow flexion contracture Knee flexion contracture Hemivertebrae Abnormal[mendelian.co] OI is heritable in an autosomal dominant fashion, however most observed cases occur by de novo mutation.[orthopaedicsone.com]

  • Non-Syndromic Aplasia Cutis Congenita

    Genetic counseling Most reported cases are sporadic, but autosomal dominant inheritance has been reported in familial cases.[orpha.net] […] 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] Most cases of nonsyndromic aplasia cutis congenita are sporadic, which means they occur in people with no history of the disorder in their family.[ghr.nlm.nih.gov]

  • Congenital Non-Progressive Ataxia

    Genetics Most cases of PCG occur sporadically.[entokey.com] […] arachnodactyly Congenital diaphragmatic hernia Congenital disorder of glycosylation Congenital dyserythropoietic anemia Congenital dyserythropoietic anemia type IV Congenital elbow[sanfordresearch.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]

  • Autosomal Recessive Distal Osteolysis Syndrome

    cases are sporadic, but inherited cases are likely to be autosomal dominant.[e-ijd.org] […] flexion contracture Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Intellectual disability Mental deficiency Mental retardation Mental retardation[rarediseases.info.nih.gov] […] disability, severe Feeding difficulties in infancy Highly arched eyebrow Apnea Failure to thrive Cataract Short stature Congenital cataract Lumbar hyperlordosis Autosomal[mendelian.co]

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