Webb22 nov. 2024 · Lamb-Shaffer Syndrome is a genetic, neuro-developmental condition with symptoms such as severe expressive speech delay, global developmental delay, gross and fine motor delay, low muscle tone, minor facial abnormalities, vision issues, anxiety, a love of water, and a smile and laugh that could light up a room!!
Lamb-Shaffer-Syndrom – Wikipedia
WebbLamb-Shaffer Syndrome is genetic condition classified as a mutation, deletion or partial deletion of the SOX5 gene located in the 12th chromosome. The most common … Webb23 juni 2024 · Lamb-Shaffer症候群. Schanzeら(2013)は、LAMSHFの男児において、SOX5遺伝子(604975.0003)にde novoのヘテロ接合性遺伝子内欠失を同定した。 … gisele and the green team
Orphanet: Lamb Shaffer syndrome
WebbLamb-Shaffer syndrome (LAMSHF) is a rare genetic disorder. It can result in developmental delays, speech abnormalities, intellectual disability and, sometimes, … Webb9 feb. 2024 · Lamb-Shaffer syndrome (LAMSHF, MIM 616,803) is a rare neurodevelopmental disorder due to haploinsufficiency of SOX5. Furthermore, studies about the clinical features of LAMSHF patients with same allele of c.1477C > T (p. R493*) are very limited. Case presentation Symptoms of Lamb-Shaffer syndrome include fine and gross motor delays, speech delay, global developmental delay,hypotonia and issues with vision, commonly misdiagnosed for autism. Treatment [ edit ] There is currently no curative treatment for this condition. Visa mer Lamb-Shaffer syndrome is a rare autosomal dominant condition. Less than 40 cases have been reported by 2024. Visa mer Clinical features include • Global developmental delay • Significant speech delay • Hypotonia Visa mer How this mutation causes the clinical picture is not currently clear. Visa mer There is currently no curative treatment for this condition. Supportive management is all that is currently available. Visa mer This condition is caused by mutations in the SRY-related HMG-box (SOX5) gene. This gene encodes a protein in the family of transcription … Visa mer The diagnosis may be suspected on the basis of the constellation of clinical features but may only be determined by a genetic test. The full exome sequencing test is used to … Visa mer This is a rare condition with a prevalence of < 1/10 . The total number of cases reported to date is <40. Visa mer gisele asplunds trappor