PhenomeGene — Human Disease Gene Website SeriesPVRL4

Clinical Characteristics

What families usually notice
•    Webbing of fingers/toes (syndactyly): most often between the 2nd–3rd toes; fingers can also be joined in part.
•    Hair changes: hair is sparse, coarse, and breaks easily; eyebrows and eyelashes can be thin or missing. Bald patches may progress over time, and some people lose most scalp hair by adulthood.
•    Teeth: late tooth eruption, teeth may be small, cone-shaped, widely spaced, or missing; weak enamel increases the risk of cavities and early tooth loss.
•    Skin of hands/feet: dry, thick, and tough skin on the palms and soles that can worsen with age (may crack and be sore).
•    Nails: usually normal; sometimes small or thin in some families.
•    Learning and development are usually normal.
•    Life expectancy appears normal based on current reports.

Day-to-day impact
•    Hand webbing may need surgical review if it limits function; toe webbing is often a shoe/comfort issue.
•    Hair loss and dental differences can affect self-esteem; supportive options (wigs, dental care) help.
•    Thick skin on hands/feet benefits from moisturizers, special creams, and good footwear.