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.
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Dr. Harish Malik