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21 Possible Causes for Buccal Frenulae, Cleft Palate, Lethal in Males

  • Gorlin Psaume Syndrome

    Cleft palate and lobed, bifid tongue.ognized (Table 1).[docslide.us] Orofaciodigital syndrome type 1 is an X-linked dominant condition which is lethal for males at the embryo stage.[dermnetnz.org] frenulae, bilateral preaxial polydactyly of feet and postaxial polydactyly of hands) accompanied by microcephaly, micropenis and severe intellectual disabilities.[ciliajournal.biomedcentral.com]

  • Simpson Dysmorphia Syndrome

    […] and cleft palate.[oatext.com] The severity varies from very mild forms in carrier females to infantile lethal forms in affected males.[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]

  • Mohr Syndrome

    frenulae, bilateral preaxial polydactyly of feet and postaxial polydactyly of hands) accompanied by microcephaly, micropenis and severe intellectual disabilities.[ciliajournal.biomedcentral.com] She was unable to adjust for natural feeding due to her lobulated tongue and cleft palate.[ijcasereportsandimages.com] These findings were interpreted as evidence for X-linked dominance with prenatal lethality in males.[medlink.com]

  • X-Linked Mandibulofacial Dysostosis

    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] Section on children from conception to age three covers conditions such as cleft palate, disturbances in calcification, unusual numbers of teeth, oral habits, caries, and[books.google.com] […] in males.[nature.com]

  • Pallister W Syndrome

    The features of Pallisker killian rarely involved cleft palate and anorectal anomalies (2).[latunisiemedicale.com] An underdeveloped pituitary gland can also have lethal consequences.[checkorphan.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]

  • Smith Lemli Opitz Syndrome

    palate.[ncbi.nlm.nih.gov] […] pseudohermaphroditism and frequent early lethality.[link.springer.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]

  • Autosomal Dominant Prognathism

    , cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal bridge, short philtrum, cleft lip or palate[en.wikibooks.org] […] are mentally retarded Autosomal dominant Inheritance single gene abnormalities, may occur when 1 overriding gene in a pair is present, phonotype occurs in every generation males[quizlet.com] Males are more frequently affected than females. In the absence of serious problems, life expectancy is normal.[findzebra.com]

  • Pallister-Hall Syndrome

    palate and other irregularities of the palate, cleft larynx or epiglottis, cysts on the gums, and ears that are small, low-set, and abnormally rotated toward the back of[checkorphan.org] These findings were interpreted as evidence for X-linked dominance with prenatal lethality in males.[medlink.com] frenula microglossia cleft lip and palate teeth natal teeth cardiovascular anomalies ventricular septal defect patent ductus arteriosus proximal aortic coarctation respiratory[humpath.com]

  • Autosomal Dominant Mandibulofacial Dysostosis with Ptosis

    cleft palate.[disorders.eyes.arizona.edu] […] about MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION; MDFPMR High match TERMINAL OSSEOUS DYSPLASIA; TOD Terminal osseous dysplasia is an X-linked dominant male-lethal[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,[widesmiles2.org]

  • Helsmoortel-van der Aa Syndrome

    Affiliated tissues include eye , and related phenotypes are hydronephrosis and cleft palate Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability[malacards.org] Agenesis Lutz Richner Landolt Syndrome Lymphedema, Cardiac Septal Defects, And Characteristic Facies Macrosomia Obesity Macrocephaly Ocular Abnormalities Macrosomia with Lethal[rgd.mcw.edu] Variable features include laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula,[analesdepediatria.org]

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