Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome | |
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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. [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]
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