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36 Possible Causes for Multiple Buccal Frenula, Mutation in the LMBR1 Gene, Syndactyly between Adjacent Toes

  • Pallister-Hall Syndrome

    ) Syndactyly (abnormal "webbing" between, or fusing of, adjacent fingers and/or toes) Short limbs Dysplastic nails ( i.e., finger nails and toe nails that are flaky and poorly[brighthub.com] buccal frenula microglossia cleft lip and palate teeth natal teeth cardiovascular anomalies ventricular septal defect patent ductus arteriosus proximal aortic coarctation[humpath.com] Some, but not all, patients had laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula[ncbi.nlm.nih.gov]

    Missing: Mutation in the LMBR1 Gene
  • Craniosynostosis Type 3

    buccal frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] […] trigonocephaly, unusual facies (up-slanting palpebral fissures, epicanthal folds, strabismus, hypoplastic nasal root), wide alveolar ridges, deep midline palatal furrow, multiple[rrnursingschool.biz]

    Missing: Mutation in the LMBR1 Gene
  • Syndactyly

    Clinical Information A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes.[icd9data.com] Type III results from mutation in the gene encoding GJA1. Mutations in gene that encodes for LMBR1 caused type IV.[symptoma.com] Definition (MSH) A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes.[fpnotebook.com]

    Missing: Multiple Buccal Frenula
  • Growth Failure

    Variable features include laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula,[analesdepediatria.org]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Isolated Trigonocephaly

    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] buccal frenula, limb defects, visceral anomalies involving the genitalia, heart, and intestine, redundant skin, joint contractures and dislocations, hemangiomas, mental deficiency[rrnursingschool.biz] The C syndrome also known as Opitz trigonocephaly syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) syndrome.[indianpediatrics.net]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Syndactyly, Type 4

    […] of webbing between adjacent toes.[omicsonline.org] Disease-causing mutations are located in intron 5 of LMBR1.[uniprot.org] It may involve fusion of the soft tissues with or without bony fusion; cutaneous syndactyly of the toes is soft-tissue continuity in the anterior/posterior axis between adjacent[omicsonline.org]

    Missing: Multiple Buccal Frenula
  • Autosomal Dominant Prognathism

    buccal frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal[en.wikibooks.org] Waardenburg syndrome, type IIA 193510 AD wide nasal bridge, short philtrum, cleft lip or palate, deafness Pallister-Hall syndrome 146510 AD short nose, flat nasal bridge, multiple[en.wikibooks.org]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • X-Linked Mandibulofacial Dysostosis

    buccal frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal[widesmiles2.org] Waardenburg syndrome, type IIA 193510 AD wide nasal bridge, short philtrum, cleft lip or palate, deafness Pallister-Hall syndrome 146510 AD short nose, flat nasal bridge, multiple[widesmiles2.org]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes
  • Acro-Pectoral Syndrome

    […] in the human LMBR1 gene ( C7orf2 ), and we are currently screening for such a mutation in the family we report here.[jmg.bmj.com] Note added in proof A homozygous loss of function mutation in LMBR1 has now been shown to be responsible for the congenital limb malformation acheiropodia, confirming the[jmg.bmj.com] , rather than a regulatory mutation in Shh, as originally proposed. 19 These exciting new findings strongly suggest that PPD2/3 and TPT-PS are caused by regulatory mutations[jmg.bmj.com]

    Missing: Multiple Buccal Frenula Syndactyly between Adjacent Toes
  • Simpson Dysmorphia Syndrome

    buccal frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal[widesmiles2.org] buccal frenula -microglossia -micrognathia -cleft palate -malformed ears describe waardenburg syndrome type I -autosomal dominant -wide nasal bridge -short philtrum -cleft[brainscape.com] Waardenburg syndrome, type IIA 193510 AD wide nasal bridge, short philtrum, cleft lip or palate, deafness Pallister-Hall syndrome 146510 AD short nose, flat nasal bridge, multiple[widesmiles2.org]

    Missing: Mutation in the LMBR1 Gene Syndactyly between Adjacent Toes