Create issue ticket

33 Possible Causes for Buccal Frenulae, Congenital Heart Disease, Polydactyly

  • Smith Lemli Opitz Syndrome

    Chest radiography is important in looking for congenital heart disease and/or congenital pulmonary abnormalities.[patient.info] 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]

  • Ellis-Van Creveld Syndrome

    In 1940 Ellis and van Creveld (2) described 2 more patients with similar congenital anomalies who, in addition, had congenital heart disease.[annals.org] [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]

  • Pallister-Hall Syndrome

    heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth[icdlist.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]

  • Mohr Syndrome

    OFD type II with congenital heart disease.[ijcasereportsandimages.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]

  • Curry Hall Syndrome

    heart disease (summary by Howard et al., 1997).[ncbi.nlm.nih.gov] 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]

  • Simpson Dysmorphia Syndrome

    The risk for congenital anomalies is increased, including cleft lip/palate, congenital heart disease, diaphragmatic hernia, umbilical hernia, cystic hygroma, renal dysplasia[genedx.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]

  • Gorlin Psaume Syndrome

    The developmental genetics of congenital heart disease .[ncbi.nlm.nih.gov] frenulae, bilateral preaxial polydactyly of feet and postaxial polydactyly of hands) accompanied by microcephaly, micropenis and severe intellectual disabilities.[ciliajournal.biomedcentral.com] 雑誌 Curr Opin Pediatr 14:691-5 (2002) 文献 PMID: 15096952 著者 Mori AD, Bruneau BG タイトル TBX5 mutations and congenital heart disease: Holt-Oram syndrome revealed.[genome.jp]

  • Pallister W Syndrome

    Of those children with Down syndrome who are born with congenital heart disease, an antrioventricular septal defect is the most common.[ndss.org] 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]

  • X-Linked Mandibulofacial Dysostosis

    heart disease NGS panel CHD7, ELN, GATA4, GATA6, GDF1, JAG1, NKX2-5, NKX2-6, NOTCH1, NOTCH2, NR2F2, TAB2, TBX1, TBX20, TBX5, ZIC3 Del Dup NGS Connective tissue disorder NGS[ctgt.net] 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] Hair-Mental Retardation-Seizures Syndrome Microdontia-Microcephaly-Short Stature Syndrome Microphallus-Imperforate Anus-Syndactyly-Hamartoblastoma-Abnormal Lung Lobulation-Polydactyly[neo-genetics.com]

  • Brachyphalangy Polydactyly and Tibial Aplasia/Hypoplasia

    […] brain defects, inborn errors of metabolism, and congenital heart disease.[books.google.com] Lateral clefts of the palate are produced by bilateral grooves arising from the maxillary buccal frenula.[healio.com] Symptoms - Brachyphalangy- polydactyly- and tibial aplasia/hypoplasia Causes - Brachyphalangy- polydactyly- and tibial aplasia/hypoplasia Not supplied.[checkorphan.org]

Similar symptoms