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33 Possible Causes for Buccal Frenulae, Polydactyly, Short Stature

  • Pallister-Hall Syndrome

    We conclude that children with Pallister-Hall syndrome and short stature be evaluated carefully for spontaneous somatotropic function and, if necessary, treated with growth[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]

  • Mohr Syndrome

    dysplasia • Inheritance: autosomal recessive Oral-facial-digital syndrome V (aka, Thurston syndrome) • Distinguishing feature: cleft lip; postaxial polydactyly; early dental[medlink.com] 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

    Affected individuals have dysmorphism, short stature, failure to thrive, microcephaly, multiple congenital malformations, and mental retardation.[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] 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

    stature, facial Multiple malformation syndrome, small stature, without skeletal dysplasia MVRCS association Nail-patella syndrome Nance-Horan syndrome Neu-Laxova syndrome[icd9data.com] 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]

  • Ellis-Van Creveld Syndrome

    It is an autosomal recessive disorder characterized by disproportionate short stature, postaxial polydactyly, ectodermal dysplasia and congenital heart defect.[ncbi.nlm.nih.gov] [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]

  • Curry Hall Syndrome

    dysplasia manifest by nail dystrophy, oral and dental anomalies, polydactyly of the hands and feet, and mild short stature.[amhsjournal.org] 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]

  • Baller-Gerold Syndrome

    In the second family, the affected male had craniosynostosis, radial ray defect, poikiloderma, and short stature. He had a homozygous splice site mutation (IVS17-2A C).[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] The observation of associated postaxial polydactyly, blue sclera, rotatory nystagmus, other skeletal and orodental anomalies broadened the spectrum of phenotypic variability[ncbi.nlm.nih.gov]

  • Helsmoortel-van der Aa Syndrome

    Brain abnormalities, behavioral problems, sleep disturbance, epilepsy, hypotonia, visual problems, congenital heart defects, gastrointestinal problems, short stature, and[ncbi.nlm.nih.gov] 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]

  • Pallister W Syndrome

    Case presentation The proband is a 14 month-old girl with short stature and mental retardation. This was the first child from healthy unrelated parents.[molecularcytogenetics.biomedcentral.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]

  • Saethre-Chotzen Syndrome

    Its phenotype includes uni- or bicoronal synostosis, short stature, facial dysmorphism and variable anomalies of the hands and feet.[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]

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