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35 Possible Causes for Buccal Frenulae, Cleft Palate, Mental Retardation

  • 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] The features of Pallisker killian rarely involved cleft palate and anorectal anomalies (2).[latunisiemedicale.com]

  • Simpson Dysmorphia Syndrome

    […] and cleft palate.[oatext.com] 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]

  • Smith Lemli Opitz Syndrome

    palate.[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] 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]

  • 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] In our patients, high-arched palate was noted in 43%, bifid uvula in 10%, and cleft palate in 6%.[ncbi.nlm.nih.gov]

  • Gorlin Psaume Syndrome

    Cleft palate and lobed, bifid tongue.ognized (Table 1).[docslide.us] 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]

  • 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] , cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal bridge, short philtrum, cleft lip or palate[en.wikibooks.org]

  • Autosomal Dominant Prognathism

    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] MalaCards integrated aliases for Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies: Name: Mental Retardation, Obesity, Mandibular Prognathism[malacards.org] […] with Mental Retardation, Autosomal Recessive 38 is HERC2 (HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 2).[malacards.org]

  • Isolated Trigonocephaly

    Cleft palate without cleft lip is a distinct disorder.[sonoworld.com] It was first reported by Opitz, et al. in 1969 and is characterized by trigonocephaly (prominent metopic sutures), multiple buccal frenula, polydactyly, skin laxity, primordial[indianpediatrics.net] retardation.[ncbi.nlm.nih.gov]

  • Familial Scaphocephaly Syndrome

    Summary Although syndromic cleft lip and palate is occasionally associated with other anomalies, even with craniosynostosis, non-syndromic cleft lip and palate is rarely seen[link.springer.com] frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] An important gene associated with Scaphocephaly, Maxillary Retrusion, and Mental Retardation is FGFR2 (Fibroblast Growth Factor Receptor 2).[malacards.org]

  • 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] She was unable to adjust for natural feeding due to her lobulated tongue and cleft palate.[ijcasereportsandimages.com]

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