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31 Possible Causes for Delayed Closure of Fontanelles, Partial Syndactyly of Fingers and Toes, Ventricular Septal Defect

  • Apert Syndrome

    septal defect.[gpnotebook.co.uk] 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]

  • Saethre-Chotzen Syndrome

    Cardiovascular abnormalities, including ventricular septal defects, patent ductus arteriosus. 5 Ocular abnormalities occur in the majority of patients.[natureblind.blogspot.com] 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]

  • Trisomy 9

    Cardiovascular abnormalities were characterized by a right-sided, U-shaped aortic arch associated with a ventricular septal defect (VSD).[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] Both demonstrated conal and valvular anomalies associated with ventricular septal defects.[ncbi.nlm.nih.gov]

  • Lenz-Majewski Syndrome

    A small ventricular septal defect may close on its own (spontaneously) or become less significant as the child matures and grows.[rarediseases.org] Characterized by multiple congenital anomalies (delayed closure of fontanel, proximal symphalangism, prominent scalp cutaneous veins), mental retardation, and progressive[accessanesthesiology.mhmedical.com] Spanish displasia de Lenz - Majewski English Delayed closure of fontanel, proximal symphalangism, prominent cutaneous veins,mental retardation, and progressive skeletal sclerosis[mymemory.translated.net]

  • Trisomy 8q

    Necropsy further revealed hydrocephalus, congenital diaphragmatic hernia, ventricular septal defect, a horseshoe kidney with renal hypoplasia, and kyphoscoliosis.[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] Moreover, Case 1 had a frontal meningocele and bilateral talipes equinovarus, and Case 2 had a ventricular septal defect.[ncbi.nlm.nih.gov]

  • Hypertelorism

    In addition, she had previously undescribed manifestations including ventricular septal defect, lipoma of the occipital area, and hypoplastic left hemisphere of the cerebellum[ncbi.nlm.nih.gov] 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]

  • Pelviscapular Dysplasia

    septal defect, Asthma, Overgrowth, Unsteady gaitAbnormal facial shape, Poor head control, Hydrocephalus, Epicanthus, Facial asymmetry, Global developmental delay, Agenesis[ncbi.nlm.nih.gov] […] of the 3rd and 4th Trisomy 17p11.2 Branchio-Oto-Renal Duane fingers and bilateral partial hydrocephalus contiguous gene syndactyly of 2nd and 3rd toes syndrome Myoclonic[yumpu.com] Clinical features include cortical thickening and medullary stenosis of the tubular bones, delayed closure of fontanels, defective dentition, small eyes with hypermetropia[nectarmutation.org]

  • Familial Scaphocephaly Syndrome

    The symptoms of this syndrome are ventricular septal defect, patent ductus arteriosus, small jaw, undescended testes, and webbed fingers.[en.wikipedia.org] 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]

  • Cornelia De Lange Syndrome

    She was born with low birth weight, operated for cleft palate and diagnosed with ventricular septal defect.[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]

  • Craniosynostosis

    defect, multiple ventricular septal defects, and surgically applied pulmonary banding.[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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