| Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome | |
| Symptoms: | Minor physical anomalies |
| Onset: | Pre-natal |
| Duration: | Life-long |
| Risk: | --> |
| Prevention: | none |
| Prognosis: | Good |
| Frequency: | Rare, around 20 families worldwide are known to have the disorder to medical literature. |
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare genetic limb malformation syndrome which is characterized by thumb triphalangy, polysyndactyly of the hand and foot, and hypoplasia/aplasia of the tibia bone. Additional features include short stature, radio-ulnar synostosis, ectrodactyly and abnormalities of the carpals and metatarsals.[1] [2] Only 19 affected families worldwide have been recorded in medical literature.[3] It is associated with a heterozygous base pair substitution of A to G in position 404–406, located on intron 5 in the LMBR1 gene.[4]