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34 Possible Causes for Congenital Heart Disease, Delayed Closure of Fontanelles, Partial Syndactyly of Fingers and Toes

  • Apert Syndrome

    Other abnormalities includes central nervous system anomalies, congenital heart diseases, cleft palate, and urogenital diseases.[ncbi.nlm.nih.gov] Other signs were represented by syndactyly involving partial fusion of the fingers and toes. Also, mild mental deficiency was recorded.[ncbi.nlm.nih.gov] Craniosynostosis can lead to acrobrachycephaly or turribrachycephaly with delayed closure of fontanels and a possible impact on brain growth and neurological development.[orpha.net]

  • Cornelia De Lange Syndrome

    Congenital heart disease (CHD) is not a major criterion of the disease, but it affects many individuals.[ncbi.nlm.nih.gov] […] clinodactyly (curved 5th finger) Abnormal palmar crease Radial head dislocation/abnormal elbow extension Short 1st metacarpal/proximally placed thumb Bunion Partial 2,3 syndactyly[medicalhomeportal.org] The craniofacial appearance caused by HDAC8 mutations overlaps that of typical CdLS but often displays delayed anterior fontanelle closure, ocular hypertelorism, hooding of[ncbi.nlm.nih.gov]

  • Saethre-Chotzen Syndrome

    heart disease NGS panel CHD7, ELN, GATA4, GATA6, GDF1, JAG1, NKX2-5, NKX2-6, NOTCH1, NOTCH2, NR2F2, TAB2, TBX1, TBX20, TBX5, ZIC3 Del Dup NGS Connective tissue disorder NGS[ctgt.net] Unilateral or bilateral coronal synostosis, low frontal hair line, strabismus, ptosis, and partial cutaneous syndactyly of fingers and toes are findings suggestive of the[ncbi.nlm.nih.gov] closure of large fontanels, brachycephaly, acrocephaly, brachydactyly, cutaneous syndactyly, broad great toes, and mild shortness of stature.[ncbi.nlm.nih.gov]

  • Facioauriculoradial Dysplasia

    […] brain defects, inborn errors of metabolism, and congenital heart disease.[books.google.com] […] tarsal bones and partial cutaneous syndactyly.[mendelian.co] closure of the anterior fontanelle Broad face Bifid tongue Short 4th metacarpal Short hallux Anodontia Thickened calvaria Increased bone mineral density Limited elbow extension[mendelian.co]

  • Lenz-Majewski Syndrome

    These abnormalities include congenital heart disease, anorectal anomalies, and cysts in the kidneys.[mhmedical.com] In severe cases, the fingers, toes, hands, feet, and/or lower legs may be partially or completely absent.[rarediseases.org] Characterized by multiple congenital anomalies (delayed closure of fontanel, proximal symphalangism, prominent scalp cutaneous veins), mental retardation, and progressive[accessanesthesiology.mhmedical.com]

  • Trisomy 9

    A distinct trisomy 9 syndrome can be recognised with intrauterine growth retardation, short survival, consistent facial dysmorphism, congenital heart disease, and abnormalities[ncbi.nlm.nih.gov] Less commonly, partial webbing (syndactyly) of certain fingers and toes and dislocation of the hips at birth have been noted.[rarediseases.org] She also had a history of congenital heart disease, hearing loss, hypotonia, delayed neuropsychomotor development and swallowing disorder.[ncbi.nlm.nih.gov]

  • Hypertelorism

    […] acyanotic heart disease.[scopemed.org] Limb manifestations consist of splitting of nails (40%), broad great toes, partial syndactyly of fingers and toes, hy-perextensible joints, short 5th fingers, clinodactyly[rrnursingschool.biz] The craniofacial appearance caused by HDAC8 mutations overlaps that of typical CdLS but often displays delayed anterior fontanelle closure, ocular hypertelorism, hooding of[ncbi.nlm.nih.gov]

  • Trisomy 8q

    heart disease, and urogenital anomalies.[ncbi.nlm.nih.gov] Less commonly, partial webbing (syndactyly) of certain fingers and toes and dislocation of the hips at birth have been noted.[rarediseases.org] A male infant who died within 72 hours following an apneic episode showed clinical features of trisomy 8: abnormal facies, cloanal atresis, congenital heart disease, hypospadias[nature.com]

  • Familial Scaphocephaly Syndrome

    heart disease.[bmcproc.biomedcentral.com] Syndactyly of the fingers and toes may be total (mitten hands and sock feet) or partial affecting the second, third, and fourth digits.[ab-y-ss.com] Unusual raised ridges on the skull Premature closure of sutures; Synostosis; Plagiocephaly; Scaphocephaly; Fontanelle - craniosynostosis; Soft spot - craniosynostosis Centers[medlineplus.gov]

  • Craniosynostosis

    Children with congenital heart disease undergoing noncardiac surgery have an increased risk of perioperative morbidity and cardiac arrest.[ncbi.nlm.nih.gov] Some have partial syndactyly between the first and second toes and fingers. Children with this syndrome usually have normal intelligence. Saethre-Chotzen syndrome .[facesofchildren.org] Craniosynostosis and clavicular hypoplasia, delayed closure of the fontanelle, cranial defects, anal and genitourinary abnormalities, and skin (CDAGS), is an infrequent autosomal[ncbi.nlm.nih.gov]

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