Create issue ticket

25 Possible Causes for Buccal Frenulae, Nail Abnormality, Polydactyly

  • Pallister-Hall Syndrome

    Some features include extra fingers and/or toes (polydactyly), fusion of fingers and/or toes (syndactyly), abnormal nails, an abnormal growth in the brain called a hypothalamic[thinkgenetic.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]

  • Simpson Dysmorphia Syndrome

    […] hernia, cryptorchidism, nail dysplasia, abnormal dermatoglyphics, and sometimes mental retardation.[whonamedit.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]

  • Curry Hall Syndrome

    Overview Curry-Hall syndrome (medical condition): A rare disorder characterized by facial abnormalities and extra digits, nail abnormalities and short limbs.[checkorphan.org] 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]

  • Ellis-Van Creveld Syndrome

    [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] We report a family with complex septal cardiac defects, rhizomelic limb shortening, and polydactyly, without the typical lip, dental, and nail abnormalities of EvC.[ncbi.nlm.nih.gov]

  • Mohr Syndrome

    , fingers, and toes. [1], [2] Central nervous system, cardiovascular, renal, and cutaneous abnormalities have been linked to this disorder. [1], [2] In addition, depressed[jofs.in] 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]

  • Smith Lemli Opitz Syndrome

    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] […] and Mental Retardation N syndrome Nablus Mask-Like Facial Syndrome Naegeli Syndrome Naguib-Richieri-Costa Syndrome nail-patella syndrome Nakajo Syndrome Nakamura Osame syndrome[rgd.mcw.edu]

  • Pallister W Syndrome

    Some features include extra fingers and/or toes (polydactyly), fusion of fingers and/or toes (syndactyly), abnormal nails, an abnormal growth in the brain called a hypothalamic[thinkgenetic.com] 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

    Three affected subjects had minimal limb abnormalities (nail hypoplasia on both fifth toes and mild camptodactyly of the fourth and fifth fingers bilaterally); however, these[jmg.bmj.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] Hair-Mental Retardation-Seizures Syndrome Microdontia-Microcephaly-Short Stature Syndrome Microphallus-Imperforate Anus-Syndactyly-Hamartoblastoma-Abnormal Lung Lobulation-Polydactyly[neo-genetics.com]

  • Helsmoortel-van der Aa Syndrome

    Some associated features have been noted and include alopecia, hearing loss, spastic paraplegia, myopathy, ichthyosiform dermatoses, and nail abnormalities. [1], [2], [3][ijdvl.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]

  • Autosomal Dominant Prognathism

    Fragile nails Agenesis of permanent teeth Ovarian cyst Hypoplastic toenails Abnormality of dental morphology Polycystic ovaries Abnormality of the fingernails Abnormality[mendelian.co] 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,[en.wikibooks.org] […] exemplified characteristic features of AFA syndrome but also presented with features like notching of maxillary anteriors, elongated uvula, dystrophic nails and postaxial polydactyly[e-kjgm.org]

Similar symptoms