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What is Liebenberg syndrome and explain in detail?
Liebenberg syndrome is a rare autosomal genetic disease that involves a deletion mutation upstream of the PITX1 gene, which is one thats responsible for the bodys organization, specifically in forming lower limbs. In animal studies, when this deletion was introduced to developing birds, their wing buds were noted to take on limb-like structures.The condition was first described by Dr. F. Liebenberg in 1973 while he followed multiple generations of a South African family, but it has since been noticed in other family lineages across the world.

Symptoms and signs
People who are affected by Liebenberg Syndrome suffer from three main symptoms:
Dysplasia (improper formation) of the bony components of the elbow
Abnormal shape of carpal bones
Brachydactyly, a symptom where the fingers and toes are shorter than normal.

Phenotype
People with Liebenberg Syndrome have normal overall body structure. Their morphological differences are in both of their distal humeri, elbows, hands and wrists. The elbows are enlarged with abnormally large olecranons and radial heads. Patients have relatively fixed elbow positions and are therefore unable to pronate or supinate their forearms. Their wrists are also limited in their active movements and have very prominent ulnar sides of the joints. The fingers adopt toe-like structures. Brachydactyly and camptodactyly occur; fingers are short and abnormally bent. These changes in finger shape result in small club shaped appendages. Motion is reduced in all digital joints of the hand.

Genetics
Liebenberg Syndrome follows an autosomal dominant mode of inheritance, whereby heterozygotes with this mutation express the disease phenotype.
It is caused by a heterozygous mutation to chromosome 5. It involves the inappropriate enhancement of the PITX1 gene due to genetic deletions and chromosome translocations.PITX1 is a homeobox gene which are genes that regulate proper body structure development. This PT1X gene encodes a transcription factor expressed in hind limbs