Baller Gerold Syndrome

Baller Gerold Syndrome is an extremely rare congenital defect occurring in 1 in a million live births. At present this syndrome can only be diagnosed after birth. The typical characteristics of Baller Gerold syndrome often overlap with those of another disorder, the Rothmund Thomson syndrome   which has led scientists to conclude that it is the same gene or group of Friedrich Baller in 1950 and M. Gerold in 1959 reported this syndrome was reported in the German medical literature. Since then, less than 50 cases have been reported. 

An infant with this disorder would exhibit certain typical characteristics of this syndrome like:
  • A very prominent forehead due to premature fusion of the bones of the skull over the forehead.
  • Bulging eyes with shallow eye sockets
  • A small mouth
  • A Malformed nose
  • Missing fingers
  • Malformed or missing thumb
  • Downward slanting eyes
  • Cleft palate
  • Pointy shape of head
Infants diagnosed with this syndrome show secondary characteristics which include:
  • Slow rate of growth
  • Stunted stature
  • Malformed or missing knee caps
  • Symptoms of poikiloderma- rash over the skin, enlargement of blood vessels under the skin, skin tissue atrophy.
  • Increases susceptibility to cardiac and renal disorders
  • Low set ears and limited hearing – may be found in less than a third of patients.
Causes of Baller Gerold syndrome is thought to be genetic in origin. In a few cases, exposure of the expectant mother to sodium valproate caused this syndrome in the foetus.

The foetus must receive one defective gene causing this disorder from each parent. Some people may receive only one defective gene from either of the two parents, in which case they will not suffer from this syndrome. They will however be carriers and pass on the gene to their progeny. In case of progeny of 2 carriers of Baller Gerold syndrome, there is a 25 per cent chance that a child will inherit 2 defective genes from the parents and exhibit symptoms of this syndrome. 

Diagnosis: The diagnosis generally requires a team of professionals like medical geneticists, paediatricians, ophthalmologists and neurosurgeons.

Treatment: Due to the limited number of cases reported, there is no standard line of treatment prescribed for this syndrome. Depending upon the individual symptoms and prognosis of life expectancy, treatment prescribed may include straightening of the digits and construction or correction of the thumb.

Varies depending on what abnormalities are present. Surgery may be needed to correct premature fusion of skull bones. Patients should be screened for heart, kidney and hearing anomalies.
  
Infants suffering from Baller Gerold Syndrome have a genetic predisposition to cancer and are likely to have short life expectancy. Care should be taken to protect the skin from exposure to the sun as infants diagnosed with Baller Gerold syndrome have extremely photosensitive skin.



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