Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis.

Is ectrodactyly hereditary?

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.

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.

What genes are mutated in ectrodactyly?

SHFM3 ectrodactyly maps to the 10q24 region of chromosome 10, and the responsible genetic mutation found here is a tandem duplication. This duplication actually accounts for 20% of SHFM cases. There are several genes affected by the duplication: DACTYLIN (SFHM3), BTRC, POLL, FGF8, and LBX1.

Is ectrodactyly recessive or dominant?

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.

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27 related questions found

Can ectrodactyly be fixed?

Reconstructive surgery may be beneficial for individuals with all defects causing functional disability such as ectrodactyly, syndactyly, cleft lip or palate and other associated facial anomalies (e.g., underdeveloped jaw, malformed ears). Dental surgery and corrective devices may be used to treat misshapen teeth.

Can lobster hands be fixed?

Not all children need surgery for a cleft hand, particularly if the condition is not too severe and they have good use of their hand. However, if your child's hand has significant functional or cosmetic problems, their doctor may recommend surgery. There are many different surgical options to repair a cleft hand.

How many people in the world have ectrodactyly?

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.

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 causes crab claw hands?

Nerve damage. Damage to the nerves can occur in the arm or hand from injuries or diseases. Cervical spondylosis, ulnar nerve palsy, and ulnar nerve entrapment are all conditions that can cause nerve damage leading to claw hand.

What is Pierre Robin Syndrome?

Pierre Robin sequence is also known as Pierre Robin syndrome or Pierre Robin malformation. It is a rare congenital birth defect characterized by an underdeveloped jaw, backward displacement of the tongue and upper airway obstruction. Cleft palate is also commonly present in children with Pierre Robin sequence.

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 lobster claw deformity?

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. Syndactyly indicates fused or webbed fingers or toes. A permanent deflection of one or more fingers is referred to as clinodactyly.

What is Ectrodactyly ectodermal dysplasia?

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. Flat nasal tip.

What is the condition where you have 3 fingers?

Syndactyly type 3 (SD3) is a limb abnormality present at birth that is characterized by complete fusion of the 4th and 5th fingers on both hands. In most cases only the soft tissue is fused, but in some cases the bones of the fingers (distal phalanges) are fused.

Is Camptodactyly genetic?

Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the ...

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.

What causes Cdls?

What causes Cornelia de Lange syndrome? Cornelia de Lange syndrome is genetic condition that is caused by mutations in at least five genes (NIPBL, RAD21, SMC3, HDAC8, and SMC1A). The severity of the condition can vary greatly depending on the type of mutation and which gene is affected.

What's a cleft hand?

Cleft hand is a rare condition in which the center of a child's hand is missing a finger or fingers. Cleft hand makes up less than 5 percent of all congenital hand differences. Approximately one in 50,000 to one in 100,000 babies are born with cleft hand.

Do lobsters pull each other down?

However, and here's the key thing, if you cook more than one lobster in the same pan, at the same time, then you don't need to cover the pan. You see, the other lobsters will pull it back down as it tries to claw its way out. So effectively the other lobsters sabotage their chances of freedom.

What does Macrodactyly mean?

Macrodactyly is an uncommon condition in which a baby's toes or fingers are abnormally large due to the overgrowth of the underlying bone and soft tissue.

What is Sindactilia?

Syndactyly is a condition in which children are born with fused or webbed fingers. About half of children with syndactyly have it in both hands (bilateral). Most of the time, syndactyly affects the fingers. Sometimes it affects the toes, but not as often.

What causes a baby to be born with missing fingers?

What causes symbrachydactyly? Symbrachydactyly is caused by bones in the hand not forming correctly before birth. It is likely caused by a lack of blood flow to the tissue. Symbrachydactyly is not inherited (it cannot be passed down through a family), but it is linked with some genetic syndromes.

What is it called when you have long fingers?

Arachnodactyly. Specialty. Medical genetics. Arachnodactyly ("spider fingers") is a condition in which the fingers and toes are abnormally long and slender, in comparison to the palm of the hand and arch of the foot.

Do lobsters have feet?

Lobsters have eight walking legs; the front three pairs bear claws, the first of which are larger than the others. The front pincers are also biologically considered legs, so they belong in the order Decapods ("ten-footed").