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31 Possible Causes for Buccal Frenulae, Dysmorphic Face

  • Pallister-Hall Syndrome

    frenula microglossia cleft lip and palate teeth natal teeth cardiovascular anomalies ventricular septal defect patent ductus arteriosus proximal aortic coarctation respiratory[humpath.com] Some, but not all, patients had laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula[ncbi.nlm.nih.gov] 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]

  • 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] […] hypotrophy syndrome Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome Intellectual disability-developmental delay-contractures syndrome Intellectual[se-atlas.de] frenula -microglossia -micrognathia -cleft palate -malformed ears describe waardenburg syndrome type I -autosomal dominant -wide nasal bridge -short philtrum -cleft lip or[brainscape.com]

  • Mohr Syndrome

    frenulae, bilateral preaxial polydactyly of feet and postaxial polydactyly of hands) accompanied by microcephaly, micropenis and severe intellectual disabilities.[ciliajournal.biomedcentral.com] Additionally, Mohr syndrome is marked by dysmorphic faces such as a broad nose accompanied by a bifid tip.[symptoma.com] A clinical diagnosis of OFD1 was made, based on the characteristic dysmorphic features of the mouth, face and limbs.[jofs.in]

  • Smith Lemli Opitz Syndrome

    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] We present the case of an infant born by cesarean section for fetal suffering (Apgar score 8/1′–8/5′), with multiple malformations (dysmorphic face, polydactyly, syndactyly[endocrine-abstracts.org] Mental Retardation, Microcephaly, Epilepsy, and Coarse Face Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism Mental Retardation[rgd.mcw.edu]

  • Pallister W Syndrome

    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] Dysmorphic features included a long face and nose with protruding nasal tip and short philtrum.[findzebra.com] Facial dysmorphic features were present, including: a coarse face, a prominent forehead, bitemporally sparse hair, narrow and upslanted palpebral fissures, hypertelorism,[molecularcytogenetics.biomedcentral.com]

  • Saethre-Chotzen Syndrome

    frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] Crouzon craniofacial dysostosis (OMIM 123500) involves only the face and skull.[rrnursingschool.biz] […] trigonocephaly, unusual facies (up-slanting palpebral fissures, epicanthal folds, strabismus, hypoplastic nasal root), wide alveolar ridges, deep midline palatal furrow, multiple buccal[rrnursingschool.biz]

  • Growth Failure

    Variable features include laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula,[analesdepediatria.org] In addition to the dysmorphic face, we also noted cubitus varus deformity in both upper limbs (Figure 3), heel valgus deformity in both lower limbs (Figure 4), and wide base[oatext.com] Physical examination showed growth failure and dysmorphic features including triangular face, microcephaly, outward protruding ears, short upper and lower limbs compared to[legal-dictionary.thefreedictionary.com]

  • Isolated Trigonocephaly

    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] Crouzon craniofacial dysostosis (OMIM 123500) involves only the face and skull.[rrnursingschool.biz] frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz]

  • Autosomal Dominant Prognathism

    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] Symptoms Neuro: Moderate mental retardation; Seizures HEENT: Craniofacial dysmorphism; Narrow-based broad nose; Coloboma of alae nasi; Deep-set eyes; Long face; Relative mandibular[findzebra.com] Waardenburg syndrome, type IIA 193510 AD wide nasal bridge, short philtrum, cleft lip or palate, deafness Pallister-Hall syndrome 146510 AD short nose, flat nasal bridge, multiple buccal[en.wikibooks.org]

  • 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] Lethal short limb dwarfism with dysmorphic face, omphalocele and severe ossification defect: Piepkorn syndrome or severe “boomerang dysplasia”?.[nature.com] Waardenburg syndrome, type IIA 193510 AD wide nasal bridge, short philtrum, cleft lip or palate, deafness Pallister-Hall syndrome 146510 AD short nose, flat nasal bridge, multiple buccal[widesmiles2.org]

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