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24 Possible Causes for Buccal Frenulae, Delayed Speech and Language Development, Polydactyly

  • Pallister-Hall Syndrome

    Speech and language delays have been reported as well as delays in mobility to include deficits in balance, coordination and walking during early development.[hopeforhh.org] 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]

  • 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] […] or postaxial polydactyly (Biesecker, 2010).[genedx.com] "Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome?[en.wikipedia.org]

  • Mohr Syndrome

    Language development is often delayed in girls with OFD I, and speech difficulties are common.[socialstyrelsen.se] 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]

  • Smith Lemli Opitz Syndrome

    BRAIN MYELINATION NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia,[rgd.mcw.edu] 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]

  • Gorlin Psaume Syndrome

    Language development is often delayed in girls with OFD I, and speech difficulties are common.[socialstyrelsen.se] 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]

  • Curry Hall Syndrome

    speech and language development Limited elbow extension Knee pain Hypoplasia of the ulna Cleft upper lip Oral cleft Flat face Intestinal malrotation Ambiguous genitalia 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]

  • Autosomal Dominant Prognathism

    speech and language development 33 HP:0000750 7 visual impairment 33 HP:0000505 8 cone-shaped epiphysis 33 HP:0010579 9 reduced visual acuity 33 HP:0007663 10 telecanthus[malacards.org] 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]

  • X-Linked Mandibulofacial Dysostosis

    Their progress should be carefully monitored and educators should be informed of the potential for delayed onset of speech and difficulties with speech development including[rarediseases.org] 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]

  • Helsmoortel-van der Aa Syndrome

    […] some of the following symptoms: Uncommon Symptoms - Between 30% and 50% cases Delayed speech and language development Limb ataxia Babinski sign Cognitive impairment Motor[mendelian.co] 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]

  • Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome

    speech and language development and Limitation of joint mobility, related diseases and genetic alterations[mendelian.co] frenulae (skin connecting the cheek to the gums) Depressed nasal bridge Anterverted nares (nasal openings are tipped upwards) Low-set posteriorly rotated ears Retrognathia[bohring-opitz.org] […] type 5 with or without polydactyly WDR19 Short-rib thoracic dysplasia type 6 with or without polydactyly NEK1 Short-rib thoracic dysplasia type 7 with or without polydactyly[centogene.com]

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