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32 Possible Causes for Buccal Frenulae, Hearing Impairment, Polydactyly

  • Gorlin Psaume Syndrome

    Children with OFD II often have hearing loss due owing to impaired conductivity in the middle ear.[socialstyrelsen.se] 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]

  • X-Linked Mandibulofacial Dysostosis

    Showing of 29 80%-99% of people have these symptoms Branchial anomaly 0009794 Conductive hearing impairment Conductive deafness Conductive hearing loss [ more ] 0000405 Downslanted[rarediseases.info.nih.gov] 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]

  • Pallister-Hall Syndrome

    impairment Underdeveloped or improperly developed genitals Gastrointestinal defects, abnormal kidney function Reduced growth of head size and body length Severe mental retardation[dovemed.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

    Carrier females may be mildly affected with mild hearing impairment and focal dystonia.[rarediseases.info.nih.gov] 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]

  • Saethre-Chotzen Syndrome

    Complete Probemix List New and Improved Products IVD-Registered Products Bacteria Blood Cancers Cardiovascular Carrier Endocrine & Reproductive Gastrointestinal & Liver Hearing[mlpa.com] frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] A family with Saethre-Chotzen syndrome with or without polydactyly of the great toes is presented.[ncbi.nlm.nih.gov]

  • Brachyphalangy Polydactyly and Tibial Aplasia/Hypoplasia

    IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia Mononen-Karnes-Senac syndrome Monophalangy of Great[rgd.mcw.edu] 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]

  • Smith Lemli Opitz Syndrome

    It is characterized by growth and developmental delay, vision and hearing impairment, and impairment of the peripheral nervous system function.[icd10data.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] It is known that both CHDs of heterotaxia and postaxial polydactyly can be related to abnormalities of the SHH pathway.[ncbi.nlm.nih.gov]

  • Simpson Dysmorphia Syndrome

    impairment Niemann-Pick disease type A Niemann-Pick disease type C Niemann-Pick disease type C, adult neurologic onset Niemann-Pick disease type C, juvenile neurologic onset[se-atlas.de] 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

    This liberal arts academy caters to special needs of a different kind, opening admissions largely to deaf and hearing-impaired students — though the hearing are also admitted[special-education-degree.net] 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]

  • Pallister W Syndrome

    Vision and hearing impairments may occur. Patients may also exhibit congenital heart defects, gastroesophageal reflux, cataracts and supernumerary nipples.[en.wikipedia.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]

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