characteristic facial features. Carrier females in families with FGS1 and LS are typically . XLOS is characterized by intellectual disability, blepharophimosis, and facial coarsening. A number of individuals with nonsyndromic intellectual disability – including some females – have been described. Gorlin syndrome (also as Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs) usually from the third decade onward. Approximately 60% of individuals have characteristic facial features. Most individuals have skeletal anomalies. Cardiac and ovarian fibromas occur in approximately 2% and 20% of individuals respectively. Approximately 5% of all children with NBCCS develop medulloblastoma (primitive neuroectodermal tumor [PNET]), generally the desmoplastic subtype. Because of the significant clinical overlap and phenotypic heterogeneity, it can be difficult to establish a clinical diagnosis. Identification of a heterozygous pathogenic variant in either MED12 or PTCH1 will confirm the diagnosis. -How will the results of the genetic test, whether negative or positive, impact the future management of the member tested? (explain all that apply): Stop the need for further diagnostic testing: Inform on prognosis: Change treatment plan (e.g. medical or surgical decision-making or treatment): Evaluations following initial diagnosis of a MED12-related disorder include developmental and behavioral assessment, neurologic, cardiology, audiology and ophthalmologic examination, and consideration of brain imaging studies in individuals with FGS1 and LS. Treatment for individuals with a MED12-related disorder may include physical, occupational, and speech therapy, neurologic management (for seizures), ophthalmologic management, and standard management of chronic constipation. Additionally, surgical intervention may be needed for imperforate anus, heart defects, and other major malformations Treatment for individuals with a diagnosis of Gorlin syndrome may include surgical excision of keratocysts; early treatment of BCCs; in females, preservation of ovarian tissue whenever ovarian fibromas require surgical treatment.
characteristic facial features. Carrier females in families with FGS1 and LS are typically . XLOS is characterized by intellectual disability, blepharophimosis, and facial coarsening. A number of individuals with nonsyndromic intellectual disability – including some females – have been described. Gorlin syndrome (also as Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is characterized by the development of multiple jaw keratocysts, frequently beginning in the second decade of life, and/or basal cell carcinomas (BCCs) usually from the third decade onward. Approximately 60% of individuals have characteristic facial features. Most individuals have skeletal anomalies. Cardiac and ovarian fibromas occur in approximately 2% and 20% of individuals respectively. Approximately 5% of all children with NBCCS develop medulloblastoma (primitive neuroectodermal tumor [PNET]), generally the desmoplastic subtype. Because of the significant clinical overlap and phenotypic heterogeneity, it can be difficult to establish a clinical diagnosis. Identification of a heterozygous pathogenic variant in either MED12 or PTCH1 will confirm the diagnosis. -How will the results of the genetic test, whether negative or positive, impact the future management of the member tested? (explain all that apply): Stop the need for further diagnostic testing: Inform on prognosis: Change treatment plan (e.g. medical or surgical decision-making or treatment): Evaluations following initial diagnosis of a MED12-related disorder include developmental and behavioral assessment, neurologic, cardiology, audiology and ophthalmologic examination, and consideration of brain imaging studies in individuals with FGS1 and LS. Treatment for individuals with a MED12-related disorder may include physical, occupational, and speech therapy, neurologic management (for seizures), ophthalmologic management, and standard management of chronic constipation. Additionally, surgical intervention may be needed for imperforate anus, heart defects, and other major malformations Treatment for individuals with a diagnosis of Gorlin syndrome may include surgical excision of keratocysts; early treatment of BCCs; in females, preservation of ovarian tissue whenever ovarian fibromas require surgical treatment.