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31 Possible Causes for Buccal Frenulae, Epilepsy, Polydactyly

  • Pallister-Hall Syndrome

    According to the Epilepsy Foundation, the first seizures that present are often of the type known as gelastic (giggles) or dacrystic (crying).[wintermutedsun.wordpress.com] frenula microglossia cleft lip and palate teeth natal teeth cardiovascular anomalies ventricular septal defect patent ductus arteriosus proximal aortic coarctation respiratory[humpath.com] Author information 1 Institute of Radiology, University Hospital Basel, Petersgraben 4, Basel, Switzerland. skos@gmx.de Abstract We present a preterm-born girl with polydactyly[ncbi.nlm.nih.gov]

  • Pallister W Syndrome

    What is a ‘childhood epilepsy syndrome’? If your child is diagnosed with an epilepsy syndrome, it means that their epilepsy has some specific signs and symptoms.[epilepsysociety.org.uk] These include a short nose with flat nasal bridge, low-set and posteriorly angulated ears, cleft palate, cleft uvula, buccal frenula, bifid epiglottis, and cleft larynx.[ajnr.org] […] or postaxial polydactyly (Biesecker, 2010).[genedx.com]

  • Mohr Syndrome

    Coauthor(s) Selim R Benbadis, MD Professor, Director of Comprehensive Epilepsy Program, Departments of Neurology and Neurosurgery, Tampa General Hospital, University of South[emedicine.medscape.com] frenulae, bilateral preaxial polydactyly of feet and postaxial polydactyly of hands) accompanied by microcephaly, micropenis and severe intellectual disabilities.[ciliajournal.biomedcentral.com] Three sibs, the proband and two monozygotic twins, have a condition including mental retardation, postnatal somatic retardation, preaxial polydactyly of the feet, bifid third[ncbi.nlm.nih.gov]

  • Simpson Dysmorphia Syndrome

    […] associated with autism, including those linked to growth differences, cardiovascular issues, neurodevelopmental problems, immune dysfunction, gastrointestinal disturbances and epilepsy[books.google.com] frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal bridge,[widesmiles2.org] We report on 2 brothers with overgrowth, macrocephaly, polydactyly, supernumerary nipples, and characteristic facial appearance.[ncbi.nlm.nih.gov]

  • Helsmoortel-van der Aa Syndrome

    There are many manifestations of epilepsy and, therefore, a diversity of factors in underlying pathology, responses to treatment and prognosis.[books.google.com] Variable features include laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula,[analesdepediatria.org] J Med Genet 13:466–468 Google Scholar Fryns JP, Van den Berghe H (1979) congenital scalp defects associated with postaxial polydactyly.[link.springer.com]

  • Curry Hall Syndrome

    Doctors and other health care professionals often use syndromes to describe a person's epilepsy. Epilepsy syndromes are defined by a cluster of features.[epilepsy.com] These may include the presence of certain teeth at birth (natal teeth), abnormal folds of movement-limiting mucous membrane tissue in the cheek area of the mouth (buccal frenula[rarediseases.org] Postaxial foot polydactyly MedGen UID: 384489 • Concept ID: C2112129 • Finding Polydactyly of the foot most commonly refers to the presence of six toes on one foot.[ncbi.nlm.nih.gov]

  • Smith Lemli Opitz Syndrome

    […] associated with autism, including those linked to growth differences, cardiovascular issues, neurodevelopmental problems, immune dysfunction, gastrointestinal disturbances and epilepsy[books.google.es] These include a short nose with flat nasal bridge, low-set and posteriorly angulated ears, cleft palate, cleft uvula, buccal frenula, bifid epiglottis, and cleft larynx.[ajnr.org] It is known that both CHDs of heterotaxia and postaxial polydactyly can be related to abnormalities of the SHH pathway.[ncbi.nlm.nih.gov]

  • Gorlin Psaume Syndrome

    […] kidney Pseudo-Turner's syndrome 759.89 Rubinstein-Taybi's syndrome (brachydactylia, short stature and intellectual disabilities) 759.89 Rud's syndrome (mental deficiency, epilepsy[icd9data.com] frenulae, bilateral preaxial polydactyly of feet and postaxial polydactyly of hands) accompanied by microcephaly, micropenis and severe intellectual disabilities.[ciliajournal.biomedcentral.com] […] of the left hand, wide halluces Postaxial polydactyly of both hands, preaxial polydactyly of both feet Postaxial polydactyly of both hands, bifid halluces, bifid right fifth[ncbi.nlm.nih.gov]

  • Ellis-Van Creveld Syndrome

    Referrals are made to genetics clinics for a variety of reasons, including birth defects, developmental delay, autism, epilepsy, short stature, in the United States, physicians[wikivisually.com] [Figure 3] and [Figure 4], serrations of the alveolar ridge were observed distally to the upper central incisors [Figure 5], obliteration of both buccal and labial vestibule[drjjournal.net] Polydactyly is the most frequent skeletal anomaly.[ncbi.nlm.nih.gov]

  • X-Linked Mandibulofacial Dysostosis

    Mental Retardation-Blepharonasofacial Abnormalities-Hand Malformations Syndrome Mental Retardation-Clasped Thumb Syndrome Mental Retardation-Coarse Face-Microcephaly-Epilepsy-Skeletal[neo-genetics.com] frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal bridge,[widesmiles2.org] . · Ectrodactyly with central polydactyly. · Acrorenal syndrome with mandibulofacial dysostosis. · Ectrodactyly with congenital nystagmus. · Lacrimo-auriculo-dento-digital[fetalultrasound.com]

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