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32 Possible Causes for Buccal Frenulae, Polydactyly, Syndactyly

  • Pallister-Hall Syndrome

    […] extremities: variable proximal synostosis between central (2nd to 4th) metacarpals or intercalary polydactyly with generalised brachydactyly, severe brachytelephalangism, syndactyly[ncbi.nlm.nih.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]

  • 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] It is known that both CHDs of heterotaxia and postaxial polydactyly can be related to abnormalities of the SHH pathway.[ncbi.nlm.nih.gov] At autopsy the infant had hydrops, unusual face, cleft palate, genital abnormalities, Dandy-Walker malformation, and absence of toe syndactyly.[ncbi.nlm.nih.gov]

  • Mohr Syndrome

    Symphalangism (Stiff Fingers) UGC155/3/3/91 SH, Short palate Digitised copy available UGC155/3/3/92 SP, Small Patella Syndrome UGC155/3/3/93 SW, Swann antigen UGC155/3/3/94 SY, Syndactyly[wellcomelibrary.org] 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]

  • Gorlin Psaume Syndrome

    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] […] pseudocleft upper lip, micrognathia, downslanting palpebral fissures), abnormal hair/alopecia, evanescent facial milia, digital malformations in about 88% (brachydactyly, syndactyly[orpha.net]

  • Simpson Dysmorphia Syndrome

    […] of fingers / interdigital palm - Syndactyly of toes - Thin / hypoplastic / hyperconvex fingernails - Umbilical hernia - Ureterocele / cystic dilation / dilatation of the[csbg.cnb.csic.es] 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]

  • Ellis-Van Creveld Syndrome

    [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] Other features noted in the girls were syndactyly and mild mitral regurgitation.[ncbi.nlm.nih.gov]

  • Saethre-Chotzen Syndrome

    Saethre-Chotzen syndrome (SCS) is a type of acro-cephalo-syndactyly (ACS) syndrome, characterized by premature fusion of the coronal sutures, facial dysmorphism, syndactyly[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]

  • Curry Hall Syndrome

    synostotic syndactyly with phalangeal reduction Mesomelia-synostoses syndrome Mesomelic and rhizo-mesomelic dysplasia Mesomelic dwarfism, Reinhardt-Pfeiffer type Mesomelic[se-atlas.de] 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]

  • Pallister W Syndrome

    Some features include extra fingers and/or toes (polydactyly), fusion of fingers and/or toes (syndactyly), abnormal nails, an abnormal growth in the brain called a hypothalamic[thinkgenetic.com] 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]

  • Preaxial Hallucal Polydactyly

    Central syndactyly. The most common form of central syndactyly is more or less complete syndactyly of the second and third toes.[podiatrytoday.com] 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] 601759 PREAXIAL HALLUCAL POLYDACTYLY ORPHA: 1926; TEXT Carey et al. (1990) reported a possible causal relationship between maternal diabetes and hallucal polydactyly, with[omim.org]

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