Management

Team
Multidisciplinary: genetics, dermatology, hand/foot surgery, pediatric dentistry/orthodontics–prosthodontics; primary care ± psychology/ophthalmology.

At diagnosis
•    Map syndactyly (function + photos).
•    Dermatology: scalp/hair, nails, palmoplantar skin.
•    Dentistry: early assessment; plan imaging as needed.

Treatment
•    Syndactyly: hand surgery if functional/contracture/hygiene issues; foot surgery case-by-case.
•    Dental: preventive (fluoride, sealants); restorative/orthodontic; prosthetics for hypo-/anodontia; implants after growth.
•    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.
•    Scalp/skin sun protection; gentle care; footwear adaptations; psychosocial support.

Genetic Counselling
Mutations in PVRL4are inherited in an autosomal recessive manner. Affected individuals are typically born to unaffected carrier parents; consanguinity may be present in some families. When both parents carry the familial pathogenic variants, each pregnancy has a 25% risk of being affected, 50% risk of being an asymptomatic carrier, and 25% risk of being unaffected/non-carrier. The condition is exceptionally rare, with only a few families reported. Carrier testing for at-risk relatives and prenatal or preimplantation genetic testing are technically feasible once the familial variants are identified.