Distinct facial dysmorphisms, developmental delay, mental retardation, hypotonia, poor/absent speech, seizures, and cardiomyopathy

Monosomy 1p36 is a recently delineated condition, considered to be the most common terminal deletion syndrome. It is presumably caused by haplo insufficiency of a number of genes. 1p36 deletions deletions account for 0.5-1.2% of idiopathic mental retardation; therefore, knowledge about the disorder is of the utmost importance for pediatricians. The syndrome is characterized by a recognizable pattern of malformation, associated with consistent neurodevelopmental manifestations. The major medical problems are represented by cardiomyopathy of the "non-compaction" type, and by the infantile spasms. The deletion can be detected by high resolution karyotype in a minority of patients, and FISH and/or aCGH are required in most. Here, we alert pediatricians and make them aware of the existence of this recognizable pattern of human malformation, and propose healthcare indications for infants and children affected by the syndrome.