This chapter discusses about the chromosomal disorders, syndromes with growth disorders, lysosomal storage disorders, malformation syndromes and monogenic disorders in genetics. Angelman syndrome features mental retardation and seizures associated with inappropriate laughter, significant speech delay and jerky ataxic puppet like movements of trunk and upper limbs. Supportive care and genetic counseling are important aspects of management. Velocardiofacial syndrome consists of cardiac abnormality, cleft palate and pear shaped broad nose, hence require appropriate management of cardiac and associated malformations. Mucopolysaccharidosis Type IV is an autosomal recessively inherited type of mucopolysaccharidosis with predominant bone involvement leading to short trunk dwarfism. Joint laxity, genu valgum, odontoid hypoplasia leading to atlantoaxial dislocation need appropriate treatment. Cardiofacial syndrome is caused by partial facial palsy or hypoplasia of depressor anguli oris muscle, and cardiac malformations should be appropriately treated in this case.