Carnevale Hernandez Castillo Syndrome

Triphalangeal thumbs brachyectrodactyly


Type of disease: Rare conditions

Carnevale Hernandez Castillo Syndrome is a rare genetic condition. This condition results from a mutation or error in a person’s DNA or genes. This can cause birth defects in the hands that involve triphalangeal thumbs and also shortening in the length of fingers and toes. Triphalangeal thumbs is a term used when the thumb has 3 bones instead of 2. This causes the thumb to be the same length as the other 4 fingers. Some patients also exhibit a “lobster claw,” where one or more of the middle fingers is missing, leaving only the thumb and little finger. Although there is currently no cure for Carnevale Hernandez Castillo syndrome, there are various resources to help manage the condition and treat birth defects. Doctors seek help from various therapists and community services to provide support and care for families affected by Carnevale Hernandez Castillo syndrome.

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