What is the diagnosis in this child with intellectual disability?
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.
Rubinstein Taybi syndrome
Seckel syndrome
Fragile X syndrome
Rett syndrome
Abnormalities of Development