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923 Possible Causes for Macrostomia, Multiple Buccal Frenula, Syndactyly between Adjacent Toes

  • Simpson Dysmorphia Syndrome

    SGBS type 2. [1] [2] People with SGBS typically have distinctive facial features, including a large distance between the eyes ( hypertelorism ), an unusually wide mouth ( macrostomia[rarediseases.info.nih.gov] buccal frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal[widesmiles2.org] , broad great toes, overlapping second and third toes pCME3(Belgium) / / Pre- and postnatal overgrowth, macrocephaly, macrostomia, mild mental retardation OG004(The Netherlands[doi.org]

    Missing: Syndactyly between Adjacent Toes
  • Pallister-Hall Syndrome

    ) Syndactyly (abnormal "webbing" between, or fusing of, adjacent fingers and/or toes) Short limbs Dysplastic nails ( i.e., finger nails and toe nails that are flaky and poorly[brighthub.com] buccal frenula microglossia cleft lip and palate teeth natal teeth cardiovascular anomalies ventricular septal defect patent ductus arteriosus proximal aortic coarctation[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]

    Missing: Macrostomia
  • Craniosynostosis Type 3

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

    Missing: Macrostomia
  • X-Linked Mandibulofacial Dysostosis

    Systemic Features: Other facial malformations include macrostomia which may be secondary to aberrant lip fusion. Micrognathia has been described.[disorders.eyes.arizona.edu] buccal frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal[widesmiles2.org] A new form of mandibulofacial dysostosis with macroblepharon and macrostomia. Clin Dysmorphol 1997 ; 6 : 21 –4.[jmg.bmj.com]

    Missing: Syndactyly between Adjacent Toes
  • Mandibulofacial Dysostosis

    […] downslanting palpebral fissures extending to the temples, a broad nasal base, anteverted nares, small, posteriorly rotated ears, a long, smooth philtrum, a thin upper lip, striking macrostomia[ncbi.nlm.nih.gov] […] characteristics are represented by down slanting palpebral fissures, coloboma of the eyelid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia[ncbi.nlm.nih.gov] […] outward and downward with notches or colobomas in the outer third of the lower lids, bony defects or hypoplasia of malar and zygomatic bones, hypoplasia of the mandible, macrostomia[medical-dictionary.thefreedictionary.com]

    Missing: Multiple Buccal Frenula Syndactyly between Adjacent Toes
  • Goldenhar Syndrome

    […] preauricular appendages, preauricular fistulas, ear asymmetry, microtia, atresia of the external auditory canal), craniofacial deformities (cleft face, cleft lip, cleft palate, macrostomia[ncbi.nlm.nih.gov] Fig. 8: Convergent strabismus, matted eye lashes, macrostomia, and pyoderma.[healio.com] The additional features seen in this case are macrostomia and small projections on the cheek on the left side.[ijo.in]

    Missing: Multiple Buccal Frenula Syndactyly between Adjacent Toes
  • Familial Median Cleft of the Upper and Lower Lips

    This is known as macrostomia or enlarged mouth. If the cleft causes malformation of a feature, it is called dysplasia.[houstoncraniofacial.com] buccal frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal[en.wikibooks.org] Most cases appear to share a number of features, including cleft palate, duplication of the tongue, orbital hypertelorism and macrostomia. [8] , [9] , [10] , [11] , [12] ,[ijps.org]

    Missing: Syndactyly between Adjacent Toes
  • Mucopolysaccharidosis

    Mucopolysaccharidosis type IVB (MPS IVB) is a very rare lysosomal storage disorder characterized by skeletal dysplasia, hearing disorder, and cardiac valvular disease. Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve replacement. The[…][ncbi.nlm.nih.gov]

    Missing: Multiple Buccal Frenula Syndactyly between Adjacent Toes
  • Baraitser-Winter Syndrome 1

    Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype.[ncbi.nlm.nih.gov] Guion-Almeida ML, Richieri-Costa A : Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies:[doi.org] Guion-Almeida ML , Richieri-Costa A : Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies:[nature.com]

    Missing: Multiple Buccal Frenula Syndactyly between Adjacent Toes
  • Angelman Syndrome

    Most patients of this age group show at least 8 of the major characteristics (bursts of laughter, happy disposition, hyperactive behaviour, microcephaly, brachycephaly, macrostomia[ncbi.nlm.nih.gov] Moreover, she had facial dysmorphic features such as microbrachycephaly, mid-facial hypoplasia, macrostomia and prominent mandible.[ncbi.nlm.nih.gov] Generally from 1 year of age, the typical features of AS develop: severe intellectual deficit, absent speech, outbursts of laughter with hand flapping, microcephaly, macrostomia[orpha.net]

    Missing: Multiple Buccal Frenula Syndactyly between Adjacent Toes