Most cases of EEC syndrome are caused by mutations of the TP63 gene. The protein product of the gene is known as p63. A small percentage of cases with features resembling EEC syndrome are caused by chromosomal abnormalities. EEC syndrome is inherited as an autosomal dominant trait.

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.

Who is most likely to get 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.

How does someone get 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 is ectrodactyly diagnosed?

In this report we present two cases of ectrodactyly prenatally diagnosed by ultrasonography during the second trimester of pregnancy. Routine examination of fetal hands and feet during second-trimester ultrasonography should make the detection of hand and foot malformations more frequent.

How do you get ectrodactyly?

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.

Is ectrodactyly a disability?

Intellectual disability – spasticity -ectrodactyly syndrome is a rare intellectual disability syndrome characterized by severe intellectual disability, spastic paraplegia (with wasting of the lower limbs) and distal transverse defects of the limbs (e.g. ectrodactyly, syndactyly , clinodactyly of the hands and/or feet).

What is a lobster claw deformity called?

Ectrodactyly (also known as a split hand-split foot malformation, cleft hand or lobster claw hand) is a skeletal anomaly predominantly affecting the hands (although the feet can also be affected). The condition has a highly variable severity.

What is EEC syndrome?

Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome (EEC) is a Rare Genetic Condition Characterized by 1 Congenital absence of some fingers and/or toes (ectrodactyly) 2 Cleft lip and/or palate 3 Flat nasal tip

What is ectrodactyly–ectodermal dysplasia–cleft syndrome?

Ectrodactyly–ectodermal dysplasia–cleft syndrome. Ectrodactyly–ectodermal dysplasia–cleft syndrome, or EEC, and also referred to as EEC syndrome and split hand–split foot–ectodermal dysplasia–cleft syndrome is a rare form of ectodermal dysplasia, an autosomal dominant disorder inherited as a genetic trait.

How is ectrodactyly diagnosed in pregnancy?

Prenatal diagnosis of EEC syndrome can be suspected based upon identification of ectrodactyly, cleft lip/palate or other associated anomalies, which can be detected during a routine fetal ultrasound. Prenatal diagnosis is available for families with a known risk for having a baby with EEC syndrome.

What is the difference between EEC syndrome and ectodermal dysplasia?

A groove or gap in the upper lip (cleft lip) and a groove or gap in the roof of the mouth (cleft palate) may also occur. The ectodermal dysplasia component refers to abnormalities to structures that arise from the outermost layer of the embryo (ectoderm). In EEC syndrome, this generally affects the hair, teeth, nails,…