(facio-genito-popliteal syndrome)
Very rare: 1/300,000. Autosomal dominant transmission of a mutation of the IRF6 gene (interferon regulatory factor-6) on 1q32-2, such as Van der Woude syndrome (see this term).
Association of:
- cleft palate with or without cleft lip (90 %), with small dermal sinuses or salivary median depressions on the lower lip; sometimes syngnathia (25 %) due to the presence of fibrous bands between the gums.
- webbing (pterygium) at the level of the popliteal fossa (extreme form: from the heel to the ischium): the sciatic nerve is sometimes included in the webbing. Dysplasia of nails
- abnormalities of the external genitalia (50 %): scrotal dysplasia (bifid or absent scrotum), cryptorchidism, hypoplastic labia majora.
Pathognomonic: presence of a pyramid-shaped cutaneous fold that partly covers the nail of the big toe.
Sometimes: hypodontia, skin webs between the eyelids (20%), syndactyly, aplasia or hypoplasia of fingers (phalanges, tibia, fibula), bone abnormalities, spina bifida occulta, scoliosis, choanal atresia.
Anesthetic implications:
difficult intubation in case of syngnathia. Check for spina bifida occulta before performing a neuraxial block.
References :
- Vandeweyer E, Urbain FC, DeMey A.
Facio-genito-popliteal syndrome presenting with bilateral choanal atresia and maxillary hypoplasia.
Br J Plast Surg 2000 ; 53 : 65-7. - Patel V, Theroux MC, Reilly J.
Popliteal pterygium syndrome with syngnathia.
Paediatr Anaesth 2003; 13: 80-2. - Ghassibe M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M.
Six families with van der Woude and/or popliteal pterygiym syndrome : all with mutation in the IRF6 gene.
J Med Genet 2004 ; 41 : e15 - Gahm C, Kuylenstierna R, Papatziamos G.
Popliteal pterygium syndrome with intra-alveolar syngnathia: a discussion of anesthetic and surgical considerations.
Int J Pediatr Otorhinolaryngol 2007; 71: 1613-6.
Updated: October 2018