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25 Possible Causes for Delayed Closure of Fontanelles, Exophthalmos, Partial Syndactyly of Fingers and Toes

  • Saethre-Chotzen Syndrome

    Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.[ojrd.biomedcentral.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]

  • Apert Syndrome

    We report this case of Apert syndrome with exophthalmos, exotropia, and IOOA.[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]

  • Lenz-Majewski Syndrome

    In some cases, fatigue, headaches, poor appetite, exophthalmos, reduced subcutaneous fat, and hepatosplenomegaly have been reported.[accessanesthesiology.mhmedical.com] In severe cases, the fingers, toes, hands, feet, and/or lower legs may be partially or completely absent.[rarediseases.org] Spanish displasia de Lenz - Majewski English Delayed closure of fontanel, proximal symphalangism, prominent cutaneous veins,mental retardation, and progressive skeletal sclerosis[mymemory.translated.net]

  • Hypertelorism

    A 34-month-old boy presented with clinical manifestations of Teebi hypertelorism syndrome including prominent forehead with frontal bossing, hypertelorism, exophthalmos due[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]

  • Acrocephaly

    Exophthalmos varies from a mild degree to extreme proptosis and extrusion of the globe. Pnosis is frequently seen, with lagophthalmos.[ijo.in] 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]

  • Familial Scaphocephaly Syndrome

    Involvement in Disease: Crouzon syndrome: An autosomal dominant syndrome characterized by craniosynostosis, hypertelorism, exophthalmos and external strabismus, parrot-beaked[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] The skull base is implicated, and sphenofrontal synostosis is a factor involved in producing exophthalmos.[thamburaj.com]

  • Craniosytosis Type 4

    […] evaluation of: suture ridging sutural patency by manual palpation skull and facial configuration fullness and patency of both the anterior and posterior fontanels the presence of exophthalmos[www2.aofoundation.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]

  • Craniosynostosis

    The purpose of treating midfacial hypoplasia is to improve exophthalmos and dental occlusion.[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]

  • Frontonasal Dysplasia

    Robin sequence Robin syndrome Simple craniosynostosis Skull anomaly Treacher collins syndrome Clinical Information Autosomal dominant disorder characterized by acrocephaly, exophthalmos[icd9data.com] Great toes were broad, and there was partial syndactyly of second, third and fourth toes bilaterally. Clinodactyly of both the fifth toe was obvious [Figure 1c].[mjdrdypu.org] A very large anterior fontanelle with delayed closure was present in 6/18.[nature.com]

  • Cole-Carpenter Syndrome

    At birth, he was noted to have turricephaly, exophthalmos, downslanting palpebral fissures, angular root of nose, retrognathia, and gaping fontanels.[omim.org] […] 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]

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