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24 Possible Causes for Buccal Frenulae, Median Cleft Lip, Polydactyly

  • Gorlin Psaume Syndrome

    , median cleft lip, cleft palate, palatal grooves, alveolar notching, hyperplastic oral frenula, lobulated/bifid tongue, tongue hamartomas, missing incisor teeth, supernumerary[accessanesthesiology.mhmedical.com] 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]

  • Mohr Syndrome

    cleft lip, fatty hamartomas on the dorsum of the tongue, conductive hearing loss, and unilateral or bilateral renal agenesis.[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] Corpus callosum agenesis, congenital heart disease, bilateral bifid thumbs and halluces and polydactyly were seen in both patients.[ncbi.nlm.nih.gov]

  • Pallister-Hall Syndrome

    Anomalies include tongue lobulations, median cleft lip, pre- or post-axial polydactyly of the hands and feet, shortened tibiae and/or radii, forked metatarsals, and developmental[genome.gov] 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]

  • Familial Median Cleft of the Upper and Lower Lips

    lip (disorder) Cleft lip and alveolus Cleft lip and alveolus (disorder) Familial median cleft of upper and lower lip Familial median cleft of upper and lower lip (disorder[medicbind.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] Median cleft lip, polydactyly, syndactyly and toe anomalies in a non-Indian infant. Br. J. Plastic Surg., 1983; 36:447. 4. Burian, F. Syndromes of the head and neck.[jpma.org.pk]

  • Pallister W Syndrome

    1 W syndrome: report of three cases and review. ( 10594887 ) 1999 2 A third patient with median cleft upper lip, mental retardation and pugilistic facies (W syndrome): corroboration[malacards.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]

  • Simpson Dysmorphia Syndrome

    cleft of upper lip with polyps of facial skin and nasal mucosa SCARF syndrome Spondylothoracic dysostosis Satoyoshi syndrome Wolman disease Petit-Fryns syndrome Van Benthem-Driessen-Hanveld[checkrare.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]

  • Bifid Nose

    METHODS: Our experiences with median incomplete cleft lip repair, and with median cleft lip and bifid nasal deformity treated with primary contiguous lip and nasal repair[meeting.nesps.org] Hereditary abnormality of the buccal mucosa: abnormal bands and frenula. Revuede stomatologic 1994; 55: 209-27. 3.Toriello HV. Oral facial digital syndromes.[jpma.org.pk] Kwee ML, Lindhout D : Frontonasal dysplasia, coronal craniosynostosis, pre- and postaxial polydactyly and split nails: a new autosomal dominant mutant with reduced penetrance[nature.com]

  • Curry Hall Syndrome

    lip Agenesis of corpus callosum Limited elbow flexion Constrictive median neuropathy Hypoplasia of the femoral head Abnormality of the patella Double-layered patella Abnormality[mendelian.co] 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

    Other features noted in either cases are: congenital heart defect, median notch of the upper lip, shovel-shaped incisors and taurodontism.[ncbi.nlm.nih.gov] [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]

  • Isolated Trigonocephaly

    The most common syndromes with hypertelorism are the median cleft syndrome (hypertelorism, median cleft lip with or without a median cleft of the hard palate and nose, and[sonoworld.com] It was first reported by Opitz, et al. in 1969 and is characterized by trigonocephaly (prominent metopic sutures), multiple buccal frenula, polydactyly, skin laxity, primordial[indianpediatrics.net] Myelofibrosis with myeloid metaplasia Pilomatrixoma Polycythemia vera Alobar holoprosencephaly Cherubism Lobar holoprosencephaly Megalencephaly - polymicrogyria - postaxial polydactyly[csbg.cnb.csic.es]

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