What are the causes 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.
What are the effects of ectrodactyly?
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 hereditary?
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.
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.
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).
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 are the three main hand deformities?
Specific congenital hand differences include the following:
- Syndactyly. Syndactyly is the most common congenital hand difference.
- Polydactyly. Polydactyly is the presence of more than five digits (poly means many).
- Thumb (Radial) Polydactyly.
- Radial Club Hand.
- Cleft Hand.
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 cost of ectrodactyly treatment in India?
Treatment for Ectrodactyly usually falls in the range of Rs 70,000 – Rs 1,50,000 Are the results of the treatment permanent? The results of the treatment are permanent in nature due to reconstruction of the hands and feets at bone as well as muscles and tissue leve
What is EEC (ectodermal dysplasia-clefting 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.