Berk–Tabatznik syndrome, also known as Kyphosis brachyphalangy optic atrophy, is a very rare medical condition of unknown cause characterized by short stature, congenital optic atrophy, and brachytelephalangy.
Key Features of Berk–Tabatznik Syndrome:
- Short Stature: Affected individuals are significantly shorter than average.
- Congenital Optic Atrophy: This involves damage to the optic nerve that is present from birth, leading to vision impairment.
- Brachytelephalangy: Shortening of the distal phalanges (the bones at the tips of the fingers and toes).
Rarity
It is an extremely rare syndrome. As of the provided reference, only two cases have been documented.
Other Names
The syndrome is also known by these names:
- Kyphosis brachyphalangy optic atrophy
Summary
In conclusion, Berk–Tabatznik syndrome is a rare and poorly understood genetic condition that results in short stature, optic atrophy present from birth, and shortened fingers and toes.
