Whistling face syndrome- recessive form
Overview
A rare, recessively inherited syndrome characterized mainly by a characteristic "whistling" face and hand anomalies. The range of symptoms are variable.
Symptoms
* Prominent brow * Sunken eyes * Small mouth * Puckered lips * H-shaped chin dimple
Diagnosis
Whistling face syndrome is a type of distal arthrogryposis, related to distal arthrogryposis type 1 (DA1). In 1996, more strict criteria for the diagnosis of Whistling face syndrome were drawn up, assigning Whistling face syndrome as distal arthrogryposis type 2A (DA2A). On the whole, DA1 is the least severe; DA2B is more severe with additional features that respond less favourably to therapy. DA2A (Whistling face syndrome) is the most severe of the three, with more abnormalities and greater resistance to therapy. Whistling face syndrome has been described as a type of congenital myopathy. In March 2006, Stevenson et al. published strict diagnostic criteria for distal arthrogryposis type 2A (DA2A) or Whistling face syndrome. These included two or more features of distal arthrogryposis: microstomia, whistling-face, nasolabial creases, and 'H-shaped' chin dimple