This condition is caused by a deletion in the short arm of chromosome 5 so that part of chromosone 5 is missing .The incidence is 1 in 50,000 births.
The characteristic clinical features are :
1.Rounded face with hypertelorism.
2.Characteristic cat-like cry of the child.This is due to the underdevelopment of larynx.
3.Mental retardation.
4.Micrognathia.
5.Congenital heart defects.
It is an endocrinal disorder usually due to acidophilic cell tumour of anterior pituitary which produces excessive growth hormone during adulthood.It may also occur due to hyper secretion of prolactin.
Characteristic features :
1. Mandible elongates and widens resulting in increased inter dental spaces.
2.Enlargement of frontal,mastoid,ethmoid and maxillary sinuses causing a prominent brow.
3.Kyphosis due to periosteal growth of vertebrae.
4.Thickening of skin and coarsening of facial features and oedema i.e. Acromegalic Facies
5.Hypertrophy of soft tissues like heart, liver, kidney, spleen,intestine, muscles and tongue .Therefore there is increased urinary excretion of creatinine.
6.Osteoarthritis.
7.Abnormal GTT.
8.Visual field changes like bitemporal hemianopia.
9.Gynaecomastia (breast enlargement in males with or without lactation).
