What is Ectrodactyly ectodermal dysplasia?
Ectrodactyly ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly (development of anomalies of the structures derived from the embryonic ectodermal layer), ectrodactyly (extremities, hands and feet malformations), and cleft lip and/or palate.
What type of disorder is ectrodactyly?
Ectrodactyly, which is also known as split hand/foot malformation (SHFM), is a condition characterized by absence or malformation of one or more of the fingers or toes. Usually, the middle fingers or toes are affected.
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.
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.
What is lobster syndrome?
The term ectrodactyly denotes congenital absence of all or part of one or more fingers or toes. It is synonymous with split hand or foot deformity or lobster claw.
What is EEC (ectrodactyly ectodermal dysplasia cleft lip/palate)?
Ectrodactyly ectodermal dysplasia cleft lip/palate (EEC) syndrome is a rare genetic disorder. Symptoms can vary greatly from one person to another.
What are the symptoms of ectrodactyly-ectodermal dysplasia-clefting syndrome?
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome 1 Teeth. 2 Nails. 3 Eyes. Abnormal development of tear glands, tear ducts, and meibomian glands. 4 Other. 5 Some renal issues have also been reported. 6 (more items)
What is Ectrodactyly (split hand/foot malformation)?
Ectrodactyly, which is also known as split hand/foot malformation (SHFM), is a condition characterized by absence or malformation of one or more of the fingers or toes. Usually, the middle fingers or toes are affected. All four hands and feet may be affected in some individuals.
What is ectrodactyly?
General Discussion Ectrodactyly ectodermal dysplasia cleft lip/palate (EEC) syndrome is a rare genetic disorder. Symptoms can vary greatly from one person to another. Affected individuals often have abnormalities affecting the limbs including ectrodactyly, a condition in which part or all of the central digits (fingers or toes) are missing.
