Some important syndromes

Alport's syndrome:
Hereditary nephritis(more severe in male) and perceptive nerve deafness.
Blue Diaper Syndrome:
Failure to thrive,blue discoloration of diaper right from early infancy,irritability,constipation,infections,recurrent fever of unknown etiology,high blood urea,hyper calcemia,extensive calcinosis.
Cleidocranial syndrome:
Absent clavicles,delayed closure of fontaneles;autosomal dominant.
Dandy-Walker Syndrome:
Hydrocephalus following atresia of the foramina of Luschka and Magendie when the 4th ventricle distends into a huge cyst,autosomal recessive.
Digorge syndrome:
Defects of heart and face,repeated infections,neonatal tetany,absent thymus and parathyroids,normal immunoglobulins.
FamilialDysautonomia:
Absence of tears,poor perception of painful stimuli,excessive drooling,sweating,skin blotching,paroxysmal hypertension;autosomal recessive.
Prune belly syndrome:
Bladder neck obstruction with gross deficiency of the abdominal musculature.Patient urachus may be present,allows urine to drain from the umbilicus.
Prader-willi syndrome:
Obesity,mental retardation,hypogonadism,cryptorchidism.
Rotor syndrome:
Neonatal jaundice which persists;autosomal dominant.