absence of fingerprints-congenital milia syndrome

Absence of fingerprints-congenital milia syndrome is a rare condition that is usually seen from birth. It is marked by the lack of fingerprints on the hands and feet along with the presence of small white bumps called milia, especially on the face. In some cases, newborns may also develop blisters, which are noted at a very early age. Some people with this condition may also experience joint changes such as partial flexion contractures of the fingers and toes, and there may be webbing of the toes. The condition has been observed in a few families, including one where several generations were affected, which helps in understanding its pattern of inheritance.

Common features of absence of fingerprints-congenital milia syndrome include neonatal blisters and the development of small white papules (milia) on the face. Additionally, affected individuals do not have normal fingerprint patterns on their hands and feet. Some may also have partial flexion contractures (tightness) of the fingers and toes, and in some cases, webbing of the toes is present.

This condition is caused by changes in genes, specifically our information points to the SMARCAD1 gene. It is inherited in an autosomal dominant pattern, which means that a change in just one copy of the gene can lead to the condition. This pattern of inheritance explains why several family members over generations can be affected.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.