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423 Possible Causes for Congenital Clubfoot, Microcephaly

  • Meckel-Gruber Syndrome

    Meckel-Gruber syndrome, characterized by occipital encephalocele, microcephaly, polydactyly, cleft lip or palate, mandibular micrognathism, and anatomical abnormality of the[ncbi.nlm.nih.gov] Microcephaly, sloping forehead, posterior occipital exencephalocele, cerebellar hypoplasia, Chiari malformation, hydrocephalus, polymicrogyria, arhinencephaly, holoprosencephaly[ncbi.nlm.nih.gov] […] and MKS3 ) having been identified 4,7 : MKS1 : on chromosome 17q MKS2 : on chromosome 11q MKS3 : on chromosome 8q or 13 q Associations Central nervous system/craniofacial microcephaly[radiopaedia.org]

  • Alpha-Mannosidosis

    New Tests Histiocytosis-Lymphadenopathy Plus Syndrome via SLC29A3 Gene Sequencing with CNV Detection ( #11001 ) Lissencephaly-6 with Microcephaly via KATNB1 Gene Sequencing[preventiongenetics.com]

  • Patau Syndrome

    Some of these features include: a small head size (microcephaly), small eyes (microphthalmia), cleft lip/palate, and variations in ear shape.[health.state.mn.us] The initial clinical examination detected polydactyly in the left hand, congenital clubfoot and convex soles, ocular hypertelorism, a low nasal bridge, numerous hemangiomas[ncbi.nlm.nih.gov] The initial clinical examination detected polydactyly in the left hand, congenital clubfoot and convex foot soles.[funpecrp.com.br]

  • Holt Oram Syndrome

    The occurrence of an anorectal malformation with Holt-Oram syndrome, microcephaly, and bilateral corneal opacity is rare and to the best of our knowledge has not previously[ncbi.nlm.nih.gov] C. - "CONGENITAL CLUBFOOT: PATHANATOMY AND TREATMENT" - THE AMERICAN ACADEMY OF ORTHOPEDIC SURGEONS: INSTRUCTIONAL COURSE LECTURES, VOL. 36, ST.[graduo.ro] New Tests Histiocytosis-Lymphadenopathy Plus Syndrome via SLC29A3 Gene Sequencing with CNV Detection ( #11001 ) Lissencephaly-6 with Microcephaly via KATNB1 Gene Sequencing[preventiongenetics.com]

  • Congenital Clubfoot

    The male proband was referred for genetic evaluation due to multiple congenital anomalies including bilateral clubfoot, dysplastic hips, multiple heart defects, microcephaly[ncbi.nlm.nih.gov] Congenital clubfoot (or talipes equinovarus) is one of the most common congenital musculoskeletal anomalies and is characterized by inward rotation of the foot and a range[symptoma.com] , characterized by abnormally small heads and often underdeveloped brains, to vision problems and joints with limited range of motion, such as clubfoot . — The Washington[merriam-webster.com]

  • Congenital Vertical Talus

    […] recognised that a deletion in the 5p15.3 region results in the characteristic cry, whereas deletions in the 5p15.2 region give rise to the other features of dysmorphism, microcephaly[bmcresnotes.biomedcentral.com] Jacobsen and Crawford reported only 273 cases. [17] Some have estimated the incidence of CVT to be one tenth that of congenital clubfoot.[thehealthscience.com] Correction of Congenital Vertical Talus and Clubfoot Clubfoot and congenital vertical talus (CVT) are deformities of the foot that are present at birth and can even be diagnosed[advancedorthoandplastics.com]

  • Osteogenesis Imperfecta

    New Tests Histiocytosis-Lymphadenopathy Plus Syndrome via SLC29A3 Gene Sequencing with CNV Detection ( #11001 ) Lissencephaly-6 with Microcephaly via KATNB1 Gene Sequencing[preventiongenetics.com] This paper presents the case of a child with OI type IV who, at birth, was also diagnosed with a severe clubfoot (congenital talipes equinovarus) grade III.[ncbi.nlm.nih.gov] Other cases resemble OI Type II, except that infants have white sclerae, small heads and round faces. It is common for leg bones, humerus and femur to be short.[oif.org]

  • Craniofrontonasal Dysplasia

    Clinodactyly of the 5th finger Cognitive impairment Facial asymmetry Finger syndactyly Hand polydactyly High anterior hairline Joint hypermobility Low posterior hairline Microcephaly[familydiagnosis.com] C. - "CONGENITAL CLUBFOOT: PATHANATOMY AND TREATMENT" - THE AMERICAN ACADEMY OF ORTHOPEDIC SURGEONS: INSTRUCTIONAL COURSE LECTURES, VOL. 36, ST.[graduo.ro] In addition, individuals with craniofrontonasal dysplasia linked to X may have facial abnormalities including microcephaly, facial asymmetry, palpebral fissures, dry hair[ivami.com]

  • Congenital Muscular Dystrophy

    In addition, our patient displayed primary microcephaly, not previously reported associated with fukutin mutations.[ncbi.nlm.nih.gov] Fig 2 Bilateral congenital clubfoot in patient D-05 (case 2). Photograph reproduced with permission of parents.[academic.oup.com] […] report different compound heterozygous POMT1 mutations in four unrelated families that result in a less severe phenotype than WWS, characterized by CMD with calf hypertrophy, microcephaly[ncbi.nlm.nih.gov]

  • Joint Contracture

    […] categories of defects characterized by CDC subject matter experts as being consistent with those observed with congenital Zika virus infection: 1) brain abnormalities or microcephaly[medical-dictionary.thefreedictionary.com] We present a new patient of this syndrome, with frequent fractures, congenital joint contractures, kyphoscoliosis, bilateral clubfoot, and pectus carinatum.[ncbi.nlm.nih.gov]

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