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21 Possible Causes for Buccal Frenulae, Lethal in Males, Polydactyly

  • Gorlin Psaume Syndrome

    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] […] 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]

  • Pallister-Hall Syndrome

    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] 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

    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] These findings were interpreted as evidence for X-linked dominance with prenatal lethality in males.[medlink.com]

  • Simpson Dysmorphia Syndrome

    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] The severity varies from very mild forms in carrier females to infantile lethal forms in affected males.[rarediseases.info.nih.gov]

  • Smith Lemli Opitz Syndrome

    […] 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] It is known that both CHDs of heterotaxia and postaxial polydactyly can be related to abnormalities of the SHH pathway.[ncbi.nlm.nih.gov]

  • Curry Hall Syndrome

    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] Curry CJR, Carey JC, Holland JS et al (1987) Smith-Lemli-Opitz type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality.[link.springer.com]

  • Pallister W Syndrome

    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] […] or postaxial polydactyly (Biesecker, 2010).[genedx.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] Hair-Mental Retardation-Seizures Syndrome Microdontia-Microcephaly-Short Stature Syndrome Microphallus-Imperforate Anus-Syndactyly-Hamartoblastoma-Abnormal Lung Lobulation-Polydactyly[neo-genetics.com] […] in males.[nature.com]

  • Helsmoortel-van der Aa Syndrome

    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] Agenesis Lutz Richner Landolt Syndrome Lymphedema, Cardiac Septal Defects, And Characteristic Facies Macrosomia Obesity Macrocephaly Ocular Abnormalities Macrosomia with Lethal[rgd.mcw.edu]

  • Autosomal Dominant Prognathism

    […] 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] 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]

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