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2,191 Possible Causes for Buccal Frenulae, Polydactyly, Pseudocleft of the Upper Lip

  • 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] […] of upper lip; alopecia; missing mandibular lateral incisors.[esanatos.com]

  • Branchio-Oculo-Facial Syndrome

    This is only the second case where preaxial polydactyly has been described in branchio-oculo-facial syndrome.[ncbi.nlm.nih.gov] […] of the upper lip.[ncbi.nlm.nih.gov] She also exhibited a rare feature of preaxial polydactyly. Her brother had a lethal phenotype with multiorgan failure. We also report a novel variant in TFAP2A gene.[ncbi.nlm.nih.gov]

    Missing: Buccal Frenulae
  • Mohr Syndrome

    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] Facial features included pseudocleft of the upper lip, [Figure 3], mild ocular hypertelorism, and broad nasal root were present [Figure 4].[ijdr.in]

  • 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] 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] Polydactyly. Postaxial polydactyly may be more common than mesoaxial polydactyly in individuals with PHS.[ncbi.nlm.nih.gov]

    Missing: Pseudocleft of the Upper Lip
  • Cystic Kidney Disease

    Keywords: Meckel-Gruber syndrome, occipital encephalocele, polycystic kidney, polydactyly How to cite this article: Panduranga C, Kangle R, Badami R, Patil PV.[ruralneuropractice.com] upper lip; and hand changes including brachydactyly, syndactyly, clinodactyly, and polydactyly [ 6 ].[hindawi.com] Keywords: M eckel Syndrome, Central Nervous System Malformations, Polydactyly and Hepatic Developmental Defects 1.[article.sciencepublishinggroup.com]

    Missing: Buccal Frenulae
  • Orofaciodigital Syndrome Type 7

    frenulae, bilateral preaxial polydactyly of feet and postaxial polydactyly of hands) accompanied by microcephaly, micropenis and severe intellectual disabilities.[doi.org] […] syndrome, polydactyly with neonatal chondrodystrophy, type i, short rib-polydactyly syndrome, type iii;srps3, verma-naumoff syndrome, polydactyly with neonatal chondrodystrophy[mendelian.co] Facial features included pseudocleft of the upper lip, [Figure 3], mild ocular hypertelorism, and broad nasal root were present [Figure 4].[ijdr.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] It is known that both CHDs of heterotaxia and postaxial polydactyly can be related to abnormalities of the SHH pathway.[ncbi.nlm.nih.gov] , sex reversal, renal hypoplasia, and unilobular lung Rsh Syndrome Lethal Acrodysgenital Syndrome Slo Syndrome Polydactyly, Sex Reversal, Renal Hypoplasia, and Unilobar Lung[wikidata.org]

    Missing: Pseudocleft of the Upper Lip
  • 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] We report on 2 brothers with overgrowth, macrocephaly, polydactyly, supernumerary nipples, and characteristic facial appearance.[ncbi.nlm.nih.gov] Bulldog" or "coarse" face (protruding jaw and tongue, widened nasal bridge, upturned nasal tip) Hands and feet are short and broad with dysplatic nails Cutaneous syndactyly Polydactyly[en.wikipedia.org]

    Missing: Pseudocleft of the Upper Lip
  • Joubert Syndrome Type 22

    frenulae, bilateral preaxial polydactyly of feet and postaxial polydactyly of hands) accompanied by microcephaly, micropenis and severe intellectual disabilities.[ciliajournal.biomedcentral.com] Systemic Features: Polydactyly of the hands is a common feature. The central metacarpal is often Y-shaped leading to ‘central polydactyly’. The large toes may be bifid.[disorders.eyes.arizona.edu] Craniofacial findings consist of facial asymmetry, hypertelorism, median cleft, or pseudocleft of the upper lip, hypoplasia of the alae nasi, oral clefts and abnormal frenulea[uniprot.org]

  • Curry Hall Syndrome

    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] Curry and Hall [1979] described a large Spanish-Mexican family with a pleiotropic autosomal dominant disorder of polydactyly, conical teeth, nail dysplasia, and short limbs[ncbi.nlm.nih.gov]

    Missing: Pseudocleft of the Upper Lip

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