What is the cause of ectrodactyly?

Genetics. A large number of human gene defects can cause ectrodactyly. The most common mode of inheritance is autosomal dominant with reduced penetrance, while autosomal recessive and X-linked forms occur more rarely. Ectrodactyly can also be caused by a duplication on 10q24.

How common is ectrodactyly?

Ectrodactyly is an autosomal dominant ectodermal dysplasia presenting as bilateral congenital malformed hands and feet [1]. It affects about 1 in 90,000 births with males and females equally as likely to be affected.

What is ECC syndrome?

Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome (EEC) is a Rare Genetic Condition Characterized by. Congenital absence of some fingers and/or toes (ectrodactyly) Cleft lip and/or palate.

How common is EEC syndrome?

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC) syndrome is a rare genetic disorder with an incidence of around 1 in 90,000 in population. It is known with various names including split hand–split foot–ectodermal dysplasia–cleft syndrome or split hand, cleft hand, or lobster claw hand/foot.

Can ectrodactyly be inherited?

Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form.

Is lobster claw hereditary?

The autosomal dominantly inherited form of isolated ectrodactyly (split hand, lobster claw, or cleft hand/foot) can be quite variable within a family and can even involve absence of the long bones. Typically, there is a medial cleft of the hand, the hand being divided into two portions.

How many cases of ectrodactyly are there?

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome syndrome is a rare genetic disorder with an incidence of around 1 in 90,000 in general population 1.

Is ectrodactyly a genetic disorder?

General Discussion. Ectrodactyly ectodermal dysplasia cleft lip/palate (EEC) syndrome is a rare genetic disorder. Symptoms can vary greatly from one person to another.

Is ectrodactyly dominant or recessive?

The ectrodactyly, ectodermal dysplasia, and clefting (EEC) syndrome is an autosomal dominant disorder characterized by a lobster-claw limb anomaly (ectrodactyly), which may be present in one or more limbs, cleft lip and palate, and ectodermal dysplasia.