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33 Possible Causes for Buccal Frenulae, Mental Retardation, Polydactyly

  • 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] Here, we describe a family with two affected children manifesting severe PHS with mental retardation, behavioral problems, and intractable seizures.[ncbi.nlm.nih.gov] 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] Smith-Lemli-Opitz syndrome, a syndrome of multiple malformations and mental retardation that for years was relegated to the atlases of genetic esoterica, was recently found[ncbi.nlm.nih.gov] It is known that both CHDs of heterotaxia and postaxial polydactyly can be related to abnormalities of the SHH pathway.[ncbi.nlm.nih.gov]

  • 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] Despite the fact that our patients have most of the minor and several of the more severe malformations, they are not mentally retarded.[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]

  • 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] retardation; bradydactyly; hypoplastic nasal cartilages; seborrheic changes; dystopia canthus; pseudocleft of upper lip; alopecia; missing mandibular lateral incisors.[esanatos.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]

  • 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] Kuwait Farag et al. (1993) conducted a clinicogenetic assessment of 400 institutionalized mentally retarded (IQ less than 50) Kuwaiti patients during a 4-year period (1986[cags.org.ae] […] or postaxial polydactyly (Biesecker, 2010).[genedx.com]

  • 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] Mental retardation is seen in 30-50% of cases.[ijdr.in]

  • Saethre-Chotzen Syndrome

    frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] Strikingly, all these patients were severely mentally retarded, which is otherwise a rare finding in Saethre-Chotzen syndrome.[ncbi.nlm.nih.gov] A family with Saethre-Chotzen syndrome with or without polydactyly of the great toes is presented.[ncbi.nlm.nih.gov]

  • Helsmoortel-van der Aa Syndrome

    Variable features include laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula,[analesdepediatria.org] Test Cost : 3000.00 AED Reporting Time: 4 Week Sample Type: EDTA blood or DNA Mental retardation autosomal dominant type 28 (ADNP) Test Description : Mental retardation autosomal[dnalabsuae.com] 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]

  • X-Linked Mandibulofacial Dysostosis

    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] Syndrome Mental Retardation-Macroorchidism Syndrome Mental Retardation-Microcephaly-Blepharochalasis Syndrome Mental Retardation-Mitral Valve Prolapse-Characteristic Face[neo-genetics.com] . · Ectrodactyly with central polydactyly. · Acrorenal syndrome with mandibulofacial dysostosis. · Ectrodactyly with congenital nystagmus. · Lacrimo-auriculo-dento-digital[fetalultrasound.com]

  • 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] Deafness, onycho-osteodystrophy, mental retardation (DOOR) syndrome.[amhsjournal.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]

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