Syndromes associated with hearing loss/ speech and language delay

Down's syndrome- Upward slanting eyes, Brushfield spot, simian crease, hypotonia in the neonatal period, epicanthic folds

Prader-Willi syndrome- Short stature, hypotonia in the neonatal period, almond shaped eyes, small penis with cryptorchidism, obesity

Treacher-Collins syndrome -Micrognatia, coloboma, low set ears, deafness, deformed external ears

Goldenhar syndrome- Asymmetry of the face, coloboma, deafness, abnormal outer ear

Fragile x syndrome- Macrocephaly, large ears, large jaws, prominent fore head, high arched palate, hyper-extensible joints, macro-orchidism

Pendred syndrome- Hearing loss, goiter, hypothyroidism

Alports syndrome - End stage kidney failure, glomerulonephritis, hearing loss

Waardenburg syndrome- Square face with thin nose, dysthopia canthorum, heterochromia iridis, pigmentary changes in the skin and hair, white forelock

Usher syndrome- Deafness, gradual visual loss, defective inner ear, retinitis pigmentosa