| Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome | |
|---|---|
 | |
| Specialty | Medical genetics |
| Symptoms | Minor physical anomalies |
| Complications | Grip, walking |
| Usual onset | Pre-natal |
| Duration | Life-long |
| Causes | Autosomal dominant genetic mutation |
| Diagnostic method | Physical examination, radiography |
| 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. Only 19 affected families worldwide have been recorded in medical literature. 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.