Team
Multidisciplinary: clinical genetics, plastic surgery, maxillofacial, speech therapy, audiology, dermatology, hand/foot surgery, pediatric dentistry/orthodontics–prosthodontics; primary care ± psychology/neurodevelopment, ophthalmology.
At diagnosis
• Document craniofacial features (cleft lip/palate; philtrum; facial photos) and feeding/airway status.
• Map cutaneous syndactyly (digits and toes; function + photos).
• Dermatology: scalp/hair fragility, eyebrows/eyelashes, nails, palmoplantar skin.
• Dentistry: early assessment; plan imaging as needed.
• Hearing/audiology baseline (cleft-associated otitis media risk).
• Neurodevelopmental screening (given variability in cognitive outcomes across families).
• Family history, consanguinity; genetic testing confirmation and carrier cascade once variant known.
Treatment
Cleft lip/palate: standard cleft pathway, feeding support, speech therapy; manage otitis media (eustachian dysfunction) as needed.
Syndactyly: hand surgery if functional limitation/contracture/hygiene problems; foot surgery case-by-case (comfort/footwear).
Dental: preventive care (fluoride, sealants); restorative/orthodontic planning; prosthetics for hypo-/anodontia; consider implants after growth completion.
Hair/alopecia: counseling, photoprotection, psychological issues.
Skin: emollients; keratolytics (urea/lactic/salicylic acid); treat fissures/infections.
Nails: usually observation; manage paronychia if present.
Ophthalmology: if symptoms from lash/brow sparsity.
Neurodevelopment: Periodic neurodevelopmental checks; offer educational/psychological support as needed. Speech/hearing monitoring throughout childhood.
Prognosis & special notes
Phenotypic severity varies by family/population. A “milder” form (e.g., Margarita Island) often shows normal intellect and lifespan; some individuals may lack clefting and/or syndactyly. More severe forms (reported in certain Israeli/Brazilian families) included intellectual disability and higher risk of infant death—anticipate closer pediatric monitoring in early life.
Genetic Counselling
PVRL1-related cleft lip/palate ectodermal dysplasia syndrome (CLPED1) is autosomal recessive. When both parents carry the familial pathogenic variant, each pregnancy has a 25% risk of being affected, 50% risk of being an asymptomatic carrier, and 25% risk of being unaffected/non-carrier. Founder variants exist (e.g., Margarita Island). Carrier testing for at-risk relatives and prenatal or preimplantation genetic testing are feasible once the familial variant is identified.
PVRL1