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33 Possible Causes for Buccal Frenulae, Craniosynostosis, Polydactyly

  • Pallister-Hall Syndrome

    Craniosynostosis was noted in several of the earliest GCPS case reports, but we have observed this in very few patients.[ojrd.biomedcentral.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]

  • Isolated Trigonocephaly

    See illustrations of all types of craniosynostosis on the Symptoms of Craniosynostosis page. What Causes Craniosynostosis?[weillcornellbrainandspine.org] 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]

  • Saethre-Chotzen Syndrome

    Furthermore, craniosynostosis was not present at birth or at the age of 4 months.[ncbi.nlm.nih.gov] 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]

  • Baller-Gerold Syndrome

    Baller-Gerold syndrome (BGS) is a rare autosomal recessive condition with radial aplasia/hypoplasia and craniosynostosis (OMIM 218600).[ncbi.nlm.nih.gov] frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] The observation of associated postaxial polydactyly, blue sclera, rotatory nystagmus, other skeletal and orodental anomalies broadened the spectrum of phenotypic variability[ncbi.nlm.nih.gov]

  • Gorlin Psaume Syndrome

    Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula.[bioportfolio.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]

  • Simpson Dysmorphia Syndrome

    […] characteristic craniofacial appearance, and developmental delay. read more Next Generation Sequencing NGS/Del Dup Comprehensive Disease Groups: Neurological and Muscular Disorders Craniosynostosis[ctgt.net] 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]

  • Isolated Brachycephaly

    Etiology of Craniosynostosis The etiology of nonsyndromic craniosynostosis is unknown, and the condition is sporadic in most instances.[aafp.org] frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] […] include holoprosencephaly and associated facial abnormalities, microcephaly, cardiac and renal abnormalities (often enlarged and echogenic kidneys), exomphalos and postaxial polydactyly[sonoworld.com]

  • X-Linked Mandibulofacial Dysostosis

    Apert syndrome 101200 AD craniosynostosis, brachysphenocephalic acrocephaly, flat facies, high narrow palate Pfeiffer syndrome 101600 AD mild craniosynostosis, flat facies[widesmiles2.org] Hair-Mental Retardation-Seizures Syndrome Microdontia-Microcephaly-Short Stature Syndrome Microphallus-Imperforate Anus-Syndactyly-Hamartoblastoma-Abnormal Lung Lobulation-Polydactyly[neo-genetics.com] . · Ectrodactyly with central polydactyly. · Acrorenal syndrome with mandibulofacial dysostosis. · Ectrodactyly with congenital nystagmus. · Lacrimo-auriculo-dento-digital[fetalultrasound.com]

  • Familial Scaphocephaly Syndrome

    Craniosynostosis Causes Craniosynostosis is usually an isolated finding in an otherwise normal child. The precise causes vary and are incompletely understood.[chla.org] frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] […] trisomy 13 syndrome holoprosencephaly due to an extra chromosome 13, in which central nervous system defects are associated with mental retardation, cleft lip and palate, polydactyly[medical-dictionary.thefreedictionary.com]

  • Autosomal Dominant Prognathism

    Areas covered include: Craniosynostosis Syndromes; Syndromes Affecting Bone; Metabolic and Autoimmune Syndromes; Syndromes Affecting Skin and Mucosa; Hamartoneoplastic Syndromes[books.google.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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