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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).[ncbi.nlm.nih.gov] 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]

  • Apert Syndrome

    Apert Syndrome Victor A.[ibis-birthdefects.org] 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]

  • Cole-Carpenter Syndrome

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

  • Facioauriculoradial Dysplasia

    Antley-Bixler syndrome Apert syndrome Arachnoid cyst with neuro-developmental delay Arhinencephaly Arthrogryposis Ataxia Atelosteogenesis Autism Baller-Gerold syndrome Bannyan-Riley-Ruvalcaba[es.slideshare.net] […] 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]

  • Familial Scaphocephaly Syndrome

    Defects in FGFR2 are a cause of Apert syndrome (APRS) [MIM:101200]; also known as acrocephalosyndactyly type 1 (ACS1).[abcam.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]

  • Acrocephaly

    Wikipedia: Apert syndrome a form of acrocephalosyndactyly, a congenital disorder characterized by malformations of the skull, face, hands and feet.[memidex.com] Apert syndrome is also characterized by partial to complete fusion (syndactyly) of certain fingers and toes (digits).[rarediseases.org] , delayed closure - see also Fistula Diastasis Dilatation fontanel 756.0 Disease, diseased - see also Syndrome Crouzon's (craniofacial dysostosis) 756.0 Friedreich's Distortion[icd9data.com]

  • 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[britannica.com] 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]

  • Hypertelorism

    syndrome/acrocephalosyndactyly; Crouzon's disease/craniofacial dysostosis; Opitz' syndrome/hypertelorism-hypospadia/BBB syndrome; Taybi syndrome/otopalatodigital syndrome[medical-dictionary.thefreedictionary.com] 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]

  • Congenital Radioulnar Synostosis

    Apert syndrome Carpenter syndrome Arthrogryposis Mandibulofacial dysostosis William syndrome Klinefelter syndrome Holt-Oram syndrome Microcephaly Multiple exostoses Clinical[boneandspine.com] Only one subject also had partial fusion of toes from third to fifth.[ncbi.nlm.nih.gov] 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[icd10data.com]

  • Craniosytosis Type 4

    acrocephalopolysyndactyly types Apert syndrome Carpenter syndrome Crouzon syndrome choanal atresia Restriction of skull growth is perpendicular to the affected suture line[radiopaedia.org] 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] closure of the fontanelle, anal anomalies, genitourinary malformations and skin eruptions.[ncbi.nlm.nih.gov]

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