Ectrodactyly (SHFM or ECC) is a relatively rare (1/90,000 births) congenital genetic (long arm of chromosome7; 7q22 - Arg304 of p63 gene is most commonly seen defect) birth defect with limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet and aplasia/or hypoplasia of the phalanges, metacarpals and metatarsals.
It can be seen either with hand and/or feet deformities (the middle finger or middle toe is missing - giving them the appearance of a Lobster claw) without any other malformations or as a ECC (Ectodermal Dysplasia-Clefting) Syndrome in which a combination of other anomalies may be seen - including - tibial aplasia, cranio-facial defects, and genitourinary abnormalities. Sometimes sensorineural hearing loss is also seen.
It is a genetic disorder which in the autosomal dominant (gene on chromosome 7) disorder is characterized by (SHFM) Split-Hand/Split-Foot Malformation; urogenital defects; skin, hair, teeth, and nail anomalies; nasolacrymal anomalies and cleft palate with or without cleft lip. Hydronephrosis is not seen prominently in ECC. Inter- and intrafamilial expression in seen to be highly variable. In mildly affected patients, SHFM may be limited to syndactyly and several instances of non-penetrance have been documented. Clinical variability not only exists between patients, but also between limbs of a single individual. There are some case reports of autosomal recessive inheritance.
Currently there are several treatments, which can normalize the appearance of the hands, yet they will not function precisely the same way as regularly formed hands. The prognosis for the non-syndromic Ectrodactyly is very good and that of the ECC syndrome depends on the organs involved and the penetrance level. Some people with ectrodactyly use prosthetic hands to avoid the rude stares of others. Early physical and occupational therapy can help those with ectrodactyly adapt, and learn to write, pick things up, and be fully functional.
Further Reading and References:
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Thank you for updating your medical knowledge at Online Health Expert.
Sincerely,
Dr. Harish Malik
It can be seen either with hand and/or feet deformities (the middle finger or middle toe is missing - giving them the appearance of a Lobster claw) without any other malformations or as a ECC (Ectodermal Dysplasia-Clefting) Syndrome in which a combination of other anomalies may be seen - including - tibial aplasia, cranio-facial defects, and genitourinary abnormalities. Sometimes sensorineural hearing loss is also seen.
It is a genetic disorder which in the autosomal dominant (gene on chromosome 7) disorder is characterized by (SHFM) Split-Hand/Split-Foot Malformation; urogenital defects; skin, hair, teeth, and nail anomalies; nasolacrymal anomalies and cleft palate with or without cleft lip. Hydronephrosis is not seen prominently in ECC. Inter- and intrafamilial expression in seen to be highly variable. In mildly affected patients, SHFM may be limited to syndactyly and several instances of non-penetrance have been documented. Clinical variability not only exists between patients, but also between limbs of a single individual. There are some case reports of autosomal recessive inheritance.
Currently there are several treatments, which can normalize the appearance of the hands, yet they will not function precisely the same way as regularly formed hands. The prognosis for the non-syndromic Ectrodactyly is very good and that of the ECC syndrome depends on the organs involved and the penetrance level. Some people with ectrodactyly use prosthetic hands to avoid the rude stares of others. Early physical and occupational therapy can help those with ectrodactyly adapt, and learn to write, pick things up, and be fully functional.
Further Reading and References:
Link1
Link2
Link3
Link4
Thank you for updating your medical knowledge at Online Health Expert.
Sincerely,
Dr. Harish Malik
Will parents of a child with this syndrome need therapy to cope with society and raising of this child?
ReplyDeleteSecondly we had a lot of doctors who were yacking about ongoing experiments where skin, bone tissue was being farmed in labs all over the place and they could fix my baby.
Then after some time, all that talk died away.
Dear Mr. Swancky,
ReplyDeleteI see the need for therapy for the child and the family members as this condition can be quite painful and emotionally traumatizing for everyone involved. I don't believe it would be easy to have it authorized through the insurance. It would be worth a try.
As you must have seen Dr. Anthony Atala has been working on tissue and organ regeneration and I am sure they will be able to literally print out hands and feet for someone suffering with this condition after the child reaches adulthood. However it might still be challanging to teach an adult how to use those new hands.
Thank you for reading and leaving comment on this post.
Sincerely,
Dr. Harish Malik