Cafe au lait spots As the cases reported are few in number, and the phenotype expression for<unk>  syndrome occurs over a wider spectrum; the cells of patients could have different levels of mosaicism.<unk>  is associated with growth delay due to insulin-like growth factor I resistance. Common features include growth delay, mental retardation and congenital malformation. Of 25 studies examined by Butler MG, all cases reported growth deficiency, 95% of cases showed varied levels of mental retardation, and 88% of the patients showed microcephaly. Besides those top 3 symptoms that are found most frequently, other symptoms include: Delayed bone age (7%), Hypertelorism (46%), Brachydactyly (44%), Triangular face (42%), Speech delay (39%), Frontal bossing (36%), Anomalous ear (30%), Café-au-lait spots (30%), Cryptorchidism (30%) and Cardiac abnormalities (30%). A precise, concrete genotype–phenotype association hasn't been established. Research into the condition attempts to elucidate the causes of symptoms. For example, by applying FISH analysis, it was revealed that growth retardation (the most common phenotype) might be caused by terminal deletion of<unk> q26 (a specific region on the chromosome<unk>  long-arm).
Ring chromosome 15
Ring chromosome 18
Ring chromosome 22
X chromosome
Y chromosome
Dup15q
Distal 18q-
Ethosome