PhenomeGene — Human Disease Gene Website SeriesPVRL1

Clinical Characteristics

What families usually notice
•    Cleft lip and/or cleft palate: may affect feeding in infancy, ear health, and speech; care follows a standard cleft pathway.
•    Webbing of fingers/toes (syndactyly): most often between the 2nd–3rd toes; fingers can be partly joined in combinations among 2–3–4. Some people may have no webbing.
•    Hair changes: scalp hair can be sparse, short, and brittle; eyebrows and eyelashes may be thin or patchy. Hair loss can slowly progress with age.
•    Teeth: late tooth eruption; teeth may be small, or missing. Some adults may have no teeth; weaker enamel can mean more 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.
•    Sweating: usually normal.
•    Learning and development: usually normal, but mild delay has been reported in some families.
•    Life expectancy: appears normal based on current reports.

Day-to-day impact
•    Cleft lip/palate: may need feeding support in infancy, ear/hearing checks, speech therapy, and planned surgeries.
•    Dental health: early, regular dental care (cleanings, sealants, orthodontics, dentures/implants when older) helps with chewing, speech, and appearance.
•    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.