Knowra Ectrodactyly Ectrodactyly Ectrodactyly is a congenital limb difference involving absent or underdeveloped central digits, often creating a cleft in the hand or foot. It is also called split-hand/foot malformation.
Split-hand/foot malformation : A group of congenital limb malformations involving a cleft hand or foot and missing or reduced central digits. This broader clinical term includes ectrodactyly and related patterns of central-digit deficiency.
Congenital anomaly : A structural or functional condition present at birth, arising during prenatal development. Ectrodactyly is a congenital structural difference of the hands or feet.
Prenatal ultrasonography : Medical imaging that uses ultrasound to examine a fetus during pregnancy. A pronounced limb cleft may be identified before birth during an anatomical survey.
EEC syndrome : A genetic syndrome characterized by ectodermal dysplasia, ectrodactyly, and cleft lip or palate. Its name captures a well-known syndromic combination that includes ectrodactyly.
Limb development : The embryonic processes that form and pattern the arms, hands, legs, and feet. Ectrodactyly arises when these processes pattern the central part of a developing limb abnormally.
Syndactyly : A congenital condition in which two or more fingers or toes are joined. It can occur alongside ectrodactyly, especially in complex split-hand/foot patterns.
Genetic counseling : A clinical service that explains genetic conditions, inheritance, testing, and reproductive options. It can clarify recurrence risks when ectrodactyly appears in a family or syndrome.
SHFM1 : A form of split-hand/foot malformation associated with changes at chromosome 7q21. This genetic subtype can produce central-ray deficiencies in hands or feet.
Apical ectodermal ridge : A signaling center at the tip of a growing embryonic limb bud that promotes limb outgrowth. Disruption of limb-bud signaling can alter digit formation and contribute to split-hand/foot patterns.
Polydactyly : A congenital condition in which a hand or foot has extra fingers or toes. It contrasts with ectrodactyly’s central-digit deficiency, though both involve digit patterning.
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