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31 Possible Causes for Acrocephalosyndactyly, Delayed Closure of Fontanelles, Partial Syndactyly of Fingers and Toes

  • Saethre-Chotzen Syndrome

    acrocephalosyndactyly locus on 5q (Boston type).[] Unilateral or bilateral coronal synostosis, low frontal hair line, strabismus, ptosis, and partial cutaneous syndactyly of fingers and toes are findings suggestive of the[] closure of large fontanels, brachycephaly, acrocephaly, brachydactyly, cutaneous syndactyly, broad great toes, and mild shortness of stature.[]

  • Apert Syndrome

    Apert Syndrome Victor A.[] Other signs were represented by syndactyly involving partial fusion of the fingers and toes. Also, mild mental deficiency was recorded.[] Craniosynostosis can lead to acrobrachycephaly or turribrachycephaly with delayed closure of fontanels and a possible impact on brain growth and neurological development.[]

  • Cole-Carpenter Syndrome

    ACPS II acrocephalopolysyndactyly 2 acrocephalopolysyndactyly type II acrocephalosyndactyly, type II type II acrocephalosyndactyly Alessandri JL, Dagoneau N, Laville JM, Baruteau[] […] and toes (brachydactyly); partial fusion of the soft tissues (cutaneous syndactyly) between certain digits; and the presence of extra (supernumerary) toes or, less commonly[] Dysosteosclerosis – disproportional short stature, deafness, blindness, delayed closure anterior fontanelle, frontal bossing, delayed tooth eruption, osteosclerosis, platyspondyly[]

  • Facioauriculoradial Dysplasia

    Antley-Bixler syndrome Apert syndrome Arachnoid cyst with neuro-developmental delay Arhinencephaly Arthrogryposis Ataxia Atelosteogenesis Autism Baller-Gerold syndrome Bannyan-Riley-Ruvalcaba[] […] tarsal bones and partial cutaneous syndactyly.[] closure of the anterior fontanelle Broad face Bifid tongue Short 4th metacarpal Short hallux Anodontia Thickened calvaria Increased bone mineral density Limited elbow extension[]

  • Familial Scaphocephaly Syndrome

    Defects in FGFR2 are a cause of Apert syndrome (APRS) [MIM:101200]; also known as acrocephalosyndactyly type 1 (ACS1).[] Syndactyly of the fingers and toes may be total (mitten hands and sock feet) or partial affecting the second, third, and fourth digits.[] Unusual raised ridges on the skull Premature closure of sutures; Synostosis; Plagiocephaly; Scaphocephaly; Fontanelle - craniosynostosis; Soft spot - craniosynostosis Centers[]

  • Acrocephaly

    Wikipedia: Apert syndrome a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet.[] Apert syndrome is also characterized by partial to complete fusion (syndactyly) of certain fingers and toes (digits).[] , delayed closure - see also Fistula Diastasis Dilatation fontanel 756.0 Disease, diseased - see also Syndrome Crouzon's (craniofacial dysostosis) 756.0 Friedreich's Distortion[]

  • Craniosynostosis

    Apert syndrome ( acrocephalosyndactyly ) is a rare inherited disorder in which premature closure of the coronal suture is associated with fused digits, defects of the brain[] Some have partial syndactyly between the first and second toes and fingers. Children with this syndrome usually have normal intelligence. Saethre-Chotzen syndrome .[] Craniosynostosis and clavicular hypoplasia, delayed closure of the fontanelle, cranial defects, anal and genitourinary abnormalities, and skin (CDAGS), is an infrequent autosomal[]

  • Hypertelorism

    syndrome/acrocephalosyndactyly; Crouzon's disease/craniofacial dysostosis; Opitz' syndrome/hypertelorism-hypospadia/BBB syndrome; Taybi syndrome/otopalatodigital syndrome[] Limb manifestations consist of splitting of nails (40%), broad great toes, partial syndactyly of fingers and toes, hy-perextensible joints, short 5th fingers, clinodactyly[] The craniofacial appearance caused by HDAC8 mutations overlaps that of typical CdLS but often displays delayed anterior fontanelle closure, ocular hypertelorism, hooding of[]

  • Congenital Radioulnar Synostosis

    Apert syndrome Carpenter syndrome Arthrogryposis Mandibulofacial dysostosis William syndrome Klinefelter syndrome Holt-Oram syndrome Microcephaly Multiple exostoses Clinical[] Only one subject also had partial fusion of toes from third to fifth.[] It is characterized by developmental abnormalities in the bones and teeth, including the complete or partial absence of the clavicles, delayed closure of the fontanels, protruding[]

  • Craniosytosis Type 4

    acrocephalopolysyndactyly types Apert syndrome Carpenter syndrome Crouzon syndrome choanal atresia Restriction of skull growth is perpendicular to the affected suture line[] Some have partial syndactyly between the first and second toes and fingers. Children with this syndrome usually have normal intelligence. Saethre-Chotzen syndrome .[] closure of the fontanelle, anal anomalies, genitourinary malformations and skin eruptions.[]

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