pterygium syndrome

pte·ryg·i·um syn·drome

[MIM*178110, MIM*265000, MIM*312150]
webbing of the neck, antecubital fossae, and popliteal fossae with flexion deformities of the limbs and anomalies of the vertebrae; autosomal dominant, autosomal recessive, and X-linked recessive inheritance have all been described.
Farlex Partner Medical Dictionary © Farlex 2012
References in periodicals archive ?
These have also been found in SHS (DA2B) [4] and multiple pterygium syndrome (DA8) [22] and quite recently in autosomal dominant spondylocarpotarsal synostosis syndrome [23].
Beck et al., "Autosomal-dominant multiple pterygium syndrome is caused by mutations in MYH3," American Journal of Human Genetics, vol.
However, it can be associated with several disorders such as trisomy 18 (Edward's syndrome), (7) Hay-Wells syndrome (a variant of the ectodactyly-ectodermal dysplasia-cleft lip palate syndrome), (8) popliteal pterygium syndrome (characterised by intercrural webbing of the lower limbs), (9) CHANDS (curly hair-ankyloblepharon-nail dysplasia)(10) and cleft lip and palate.
Less than 40 cases of alveolar synechiae have been reported in literature.1,2 Although it may present in isolation with cleft palate, alveolar synechiae are usually associated with Van der Woude syndrome, oromandibular limb hypogenesis syndrome,3 microglossia, micrognathia and popliteal pterygium syndrome.4,5 The exact incidence of this condition is still unknown but the incidence of infantile congenital anomalies is approx.
It can be associated with cleft palate or syndromes like Vander de woude, Pierre robin sequence1 and popliteal pterygium syndrome.6 In this case there was no syndromic association.
ESCOBAR Syndrome is the milder form of an otherwise fatal congenital condition correctly known as Multiple pterygium syndrome.
As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend.
Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene.
Mutations in IRF6 cause Van der Woud syndromes (VWS) and Popliteal pterygium syndrome (PPS) has been reported for human (Lees et al., 2000; Kondo et al., 2002).
Popliteal pterygium syndrome. Int J Pediatr Otorhinolaryngol 1988; 15 (1): 17-22.
Case of lethal multiple pterygium syndrome with special reference to the origin of pterygia.