You are a helpful, respectful, and honest assistant. Always answer as helpfully as possible, while being safe. Your answers should not include any harmful, unethical, racist, sexist, toxic, dangerous, or illegal content. Please ensure that your responses are socially unbiased and positive in nature. If a question does not make any sense or is not factually coherent, explain why instead of answering something not correct. If you don't know the answer to a question, please don't share false information.
What is What is the diagnosis in this child with intellectual disability? and explain in detail?
Elongated face with large protruding ears, in a male with intellectual disability suggests a diagnosis of Fragile X syndrome. Fragile X syndrome or Main-Bell syndrome: Due to Gene Mutation in the FMR1 gene on chromosome - X CGG trinucleotide repeats Second most common genetic cause of intellectual disability after Down's syndrome Males are more severely affected by than females. CLINICAL FEATURES: Long face Hyperextensible joints High Arched Palate Mitral valve prolapse Large Mandible Large Ears Large testis/ macroorchidism ( In post- pubeal males) OTHER OPTIONS : Seckel syndrome- elongated bird facies, beak like nose, microcephaly Rett syndrome- acquired microcephaly Rubinstein Taybi syndrome- microcephaly, micrognathia, high arched palate, low set ears, angulated thumb.