Ectrodactyly, also known as split hand/split foot malformation (SHFM), is a rare genetic disorder characterized by the abnormal development of the hands and/or feet. It is a limb malformation that results in the absence or fusion of certain digits, giving the affected limb a claw-like appearance.
Synonyms
Ectrodactyly is often referred to by several synonyms, including:
- Split hand/split foot malformation (SHFM): This term accurately describes the primary feature of the condition, which is the splitting or missing of digits in the hands and/or feet.
- Lobster claw syndrome: This term is derived from the claw-like appearance of the affected limb, resembling the pincers of a lobster.
- Cleft hand/cleft foot malformation: This synonym emphasizes the presence of a cleft or split in the affected hand or foot.
- Adactyly: This term refers to the absence of one or more digits in the affected limb.
- Syndactyly: Although ectrodactyly is characterized by the splitting of digits, it can sometimes be associated with the fusion of adjacent digits, a condition known as syndactyly.
Ectrodactyly can occur as an isolated condition or as part of a syndrome, such as the Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) syndrome or the Adams-Oliver syndrome. It is important to note that the severity and specific features of ectrodactyly can vary widely among individuals.