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22 Possible Causes for Congenital Eye Anomaly, Delayed Closure of Fontanelles, Partial Syndactyly of Fingers and Toes

  • Frontonasal Dysplasia

    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] , 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] Abstract Frontonasal dysplasia is a rare congenital anomaly affecting the eyes, nose and forehead, and occurs sporadically in most of the cases.[ncbi.nlm.nih.gov]

  • Apert Syndrome

    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] Abstract Apert syndrome is a rare congenital anomaly characterized by acrocephaly, syndactyly, and abnormalities of other organs.[ncbi.nlm.nih.gov]

  • Hypertelorism

    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] […] bone; other congenital anomalies and mental retardation may be associated.[medical-dictionary.thefreedictionary.com]

  • Craniosynostosis

    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] In rare cases, the presence of hypotelorism (close-set eyes) in trigonocephaly can be associated with other congenital anomalies.[chop.edu]

  • Acrocephaly

    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] . , “On some of the congenital anomalies of the eye” , Trans, ophthal. Soc. U.K. , 1898 , 18 , 1 .[cambridge.org]

  • Cole-Carpenter Syndrome

    […] 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] Nephrotic syndrome ocular anomalies 0 *Eye Abnormalities *Nephrotic Syndrome/congenital. FACES syndrome 0 *Anorexia *Cachexia *Eye Abnormalities *Skin Diseases *Facies.[reference.md]

  • Pelviscapular Dysplasia

    […] 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] WITH BRAIN AND EYE ANOMALIES), TYPE A, 1; MDDGA1 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe[mendelian.co]

  • Congenital Radioulnar Synostosis

    Only one subject also had partial fusion of toes from third to fifth.[ncbi.nlm.nih.gov] […] appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome?[malacards.org] 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]

  • Adactyly of Foot

    Classification The scientific name for the condition is syndactyly, although this term covers both webbed fingers and webbed toes.[wikidoc.org] closure of the anterior fontanelle, Pulmonic stenosis, Broad foot , Dyscalculia, Finger syndactyly, ...see more Pathogenic (Aug 20, 2016) criteria provided, single submitterGlobal[ncbi.nlm.nih.gov] […] with congenital heart diseases, preaxial limb malformations, eye abnormalities, and genital and other deformities.[ncbi.nlm.nih.gov]

  • Weismann Netter Syndrome

    syndactyly of fingers and toes, brachydactyly of toes, valgus deformity of hypertrophied triangular great toes, broad phalanges of the great toes and broad first metatarsals[zdoc.site] Radiographic examination shows an increased density of bone of the entire skeleton, osteosclerosis, delayed closure of cranial sutures, wormian bones, open fontanels and hypoplastic[hormones.gr] PHACES represents a broad spectrum of congenital anomalies, including the following primary features: posterior fossa brain malformations, large facial hemangiomas, arterial[biomedsearch.com]

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