When should ectrodactyly be treated?
In case Ectrodactyly is progressive in nature then you should immediately go for surgery. However if that is not the case then the surgery can be delayed till the child reaches an age of 1 to 2 years. Who is not eligible for the treatment?
What is ectrodactyly?
Ectrodactyly is a hereditary condition that can occur by itself in certain cases as well as manifests along with other birth defects at times. In Some cases the condition of Ectrodactly is progressive in nature and the condition worsens as the finger keep fusing more and more over the course of time.
What is the genetic counseling for ectrodactyly?
Ectrodactyly is a condition that causes a great psychological impact for both the patient and their families, even generating rejection of the patient. Genetic counseling seeks to prepare parents for this situation, in case the diagnosis of the disease has been confirmed in an unborn child.
How do you diagnose ectrodactyly?
Diagnosis. 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.
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.
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 percentage of people 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.
What does ectrodactyly look like?
Split hand/foot malformation (SHFM) is a limb abnormality that is present at birth. It is characterized by absence of certain fingers and toes (ectrodactyly) that suggest a claw-like appearance and webbing of fingers and toes may also be present.
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).
Can lobster hands be fixed?
The first corrective surgery was performed on the boy's left hand since he was left-handed. After two hours of work, the doctors were able to fix 80 per cent of the malformation. After recovering, the boy could move his hand like normal.
Is ectrodactyly 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 causes lobster hands and feet?
Ectrodactyly refers to the congenital limb malformation, characterized by a deep median cleft of the hand and/or foot due to the absence of central rays. Affected individuals may be recognized by a lobster-claw deformity of their limb extremities that causes severe functional disorders.
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.
What does ectrodactyly mean?
Ectrodactyly, the congenital absence of one or more fingers, in 84% of patients; called 'lobster-claw anomaly' because the hands or feet of those affected can appear claw-like. – Ectodermal dysplasia with skin, hair, nails and teeth anomalies.
What condition is lobster hands?
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 does ectrodactyly mean?
The term, ectrodactyly comes from the Greek word “ektroma”, meaning abortion and “daktylos”, meaning finger. Essentially, ectrodactyly literally translates to the abortion of a finger. In the medical field however, ectrodactyly is otherwise known as split hand/split foot malformation or SHFM. It is a relatively rare congenital limb malformation ...
What causes ectrodactyly in children?
Anyhow, ectrodactyly is said to be caused by a hereditary gene mutation. Since it is hereditary, there is a high chance of a parent with ectrodactyly to pass on the trait to his/her offspring. Usually, the infant inherits the condition through autosomal dominant mode with associated reduced penetrance.
What are the most common birth defects associated with ectrodactyly?
Ectrodactyly is more often than not associated with a number of genetic defects, some of which will be each discussed in the following: Ectrodactyly – ectodermal dysplasia – cleft syndrome ( EEC) – EEC is the most common associated birth defect with ectrodactyly.
What are the physical characteristics of ectrodactyly?
It is usually typified by a number of physical characteristics such as fibular deformity, split hands and short fingers among others. Ectrodactyly – Polydactyly – In EP, ectrodactyly has an accompnaying presence of polydactyly, which is basically the presence of an extra digit.
What is the chromosome number of ectrodactyly?
On the other hand, the gene mutation or chromosomal rearrangement in ectrodactyly is either in the form of translocation or duplication and deletion, primarily in chromosome number 7. This chromosome number 7 houses the two homeobox genes known as DLX5 and DLX6 respectively.
Why is it so hard to pinpoint the cause of ectrodactyly?
However, the specific genetic cause of human ectrodactyly is difficult to pinpoint due to a number of factors such as the following: the inadequate quantity of families associated with split hand/split foot malformation.
Is ectrodactyly a good condition?
The prognosis of people with ectrodactyly, especially those who have ectrodactyly as a single birth defect is very good. The condition rarely present as a significant health risk to the one affected, except of course for minor difficulties. The life expectancy may range from very slightly decreased to normal.
What is ectrodactyly caused by?
Ectrodactyly can be caused by various changes to 7q. When 7q is altered by a deletion or a translocation ectrodactyly can sometimes be associated with hearing loss. Ectrodactyly, or Split hand/split foot malformation (SHFM) type 1 is the only form of split hand/ malformation associated with sensorineural hearing loss.
What is the name of the finger with ectrodactyls?
The hands and feet of people with ectrodactyly (ectrodactyls) are often described as "claw-like" and may include only the thumb and one finger (usually either the little finger, ring finger, or a syndactyly of the two) with similar abnormalities of the feet.
How to treat cleft hand?
Surgical treatment of the cleft hand is based on several indications: 1 Improving function 2 Absent thumb 3 Deforming syndactyly (mostly between digits of unequal length like index and thumb) 4 Transverse bones (this will progress the deformity; growth of these bones will widen the cleft) 5 Narrowed first webspace 6 The feet
How many wood frogs have ectrodacty?
After roughly 22,733 individuals were examined during field studies, it was found that only 49 wood frogs had the ectrodactyly deformity.
Is ectrodactyly a genetic trait?
Ectrodactyly is not only a genetic characteristic in humans, but can also occur in frogs and toads, mice, salamanders, cows, chickens, rabbits, marmosets, cats and dogs, and even West Indian manatees. The following examples are studies showing the natural occurrence of ectrodactyly in animals, without the disease being reproduced and tested in a laboratory. In all three examples we see how rare the actual occurrence of ectrodactyly is.
Content
The term ectrodactyly is used to call a rare hereditary syndrome, in which there is malformation of the fingers and toes. It is characterized by the absence of the distal phalanges or complete fingers.
Causes
Also know as Karsch-Neugebauer syndrome, ectrodactyly is a rare condition characterized by deformity of the hands and feet. 1 in 90,000 people suffers from this disease.
Signs and symptoms
The patient with ectrodactyly has a very characteristic deformity in the hands and feet. Depending on the severity of the disease, and depending on the individual's genetic mutation, different malformations are observed.
Prenatal
In the pregnancy control evaluations, the specialist doctor is able to observe a facial or limb malformation with ultrasound, from 8 to gestation week.
Postnatal
After birth, the malformations caused by the genetic mutation are evident, so the suspected diagnosis is made from the physical examination.
Treatment
This disease does not have a treatment aimed at its cure. However, measures are taken so that the patient improves their quality of life and can relate to their environment in a normal way.
Genetic counseling
Genetics specialists have a special counseling and advice service for patients who are carriers or have diseases that can be transmitted to their children.
What is EEM syndrome?
EEM syndrome differs from other ectrodactly syndromes by the characteristic findings in the ocular fundus showing extensive retinochoroidal atrophy with diffuse retinal pigmentation and mild arteriolar attenuation at the posterior pole. [ncbi.nlm.nih.gov]
Is ectrodactyly a syndromic condition?
When ectrodactyly is an isolated condition, it does not impact the patient's life expectancy but it does pose physical challenges. The syndromic form may present certain difficulties depending on associated anomalies, but the prognosis is overall good.
What is ectodermal dysplasia?
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. Ectrodactyly often affects the middle fingers or toes, but can present differently in different people (or be absent altogether). 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, skin and sweat glands. Individuals with EEC syndrome can also develop a variety of additional symptoms including abnormalities of the genitourinary system and the eyes. Intelligence does not seem to be affected. Most cases of EEC syndrome are caused by mutations of the TP63 gene and are either new (spontaneous) mutations or are inherited as autosomal dominant disorders.
What are the symptoms of EEC?
Individuals with EEC syndrome can also develop a variety of additional symptoms including abnormalities of the genitourinary system and the eyes. Intelligence does not seem to be affected.
Can EEC affect the middle fingers?
Usually, the middle fingers or toes are affected. All four hands and feet may be affected in some individuals. However, some individuals have only mild malformation or are unaffected. Individuals with EEC may also exhibit webbing or fusion (syndactyly) of some of the fingers and/or toes.
Can EEC syndrome cause language delays?
Intelligence is usually unaffected in children with EEC syndrome. Language development, however, may be delayed due to certain associated abnormalities such as cleft lip/palate or hearing impairment.
