The distal arthrogryposes are a group of disorders characterized by multiple congenital contractures of the limbs. In general, the distal arthrogryposes are characterized by nonprogressive, congenital contractures of two or more different body areas without primary neurological and/or muscle disease that affects limb function. Features common to all distal arthrogryposes include a consistent pattern of distal joint involvement, limited proximal joint involvement, an autosomal dominant inheritance pattern, and widely variable expressivity. Ten different distal arthrogryposes were recognized and classified hierarchically according to the proportion of features they share with one another. The prototypic distal arthrogryposis is distal arthrogryposis type 1, which is primarily characterized by camptodactyly and clubfoot, although the shoulders and hips may also be affected.
Rajab et al. (2005) reported six Omani children from two consanguineous families, with a multiple congenital anomaly syndrome defined by arthrogryposis multiplex congenita, typical facial appearance, ophthalmologic anomalies, atrophic calf muscles, and interdigital, neck and axillar pterygia. In addition, the patients had unique features as a furrowed tongue and enlarged corneal nerves, undescribed previously in association with other distal arhtrogryposis syndromes (DA). Rajab et al. (2005) proposed that their patients can be classified as multiple pterygium syndrome (Escobar syndrome), however, they also displayed overlapping features with Freeman-Sheldon syndrome and arthrogryposis with ophthalmologic abnormalities. Rajab et al. (2005) suggested that their patients could be classified as having Escobar syndrome type B because of the apparently recessive inheritance, short stature, relative macrocephaly, distinct facial appearance, camptodactyly, congenital foot deformities, and similar skeletal abnormalities such as vertebral defects, scoliosis, and joint dislocations.
Sawardekar (2005) conducted a study to establish the prevalence of major congenital malformations in children born during a 10-year period in Nizwa Hospital. Of the 21,988 total births in the hospital, four children were born with distal arthrogryposis. Sawardekar (2005) hinted for a possible genetic contribution in these children.
Al Talabani et al. (1998) studied the pattern of major congenital malformations in 24,233 consecutive live and stillbirth in Corniche hospital, which is the only maternity hospital in Abu Dhabi, between January 1992 to January 1995. A total of 401 babies (16.6/1,000), including 289 Arabs, were seen with major malformation. Single gene disorders accounted for 24% of the cases, 21% were due to autosomal dominant disorders. In their study, Al Talabani et al. (1998) observed three cases of distal arthrogryposis multiplex in families from the United Arab Emirates. In addition, Al Talabani et al. (1998) reported two additional patients with distal arthrogryposis that they classified as sporadic conditions. Recurrence of the disease in the parents or sibs of all patients with distal arthrogryposis were not reported. Al Talabani et al. (1998) concluded that their study was very close to representing the true incidence of congenital abnormalities in the whole United Arab Emirates, as they investigated over 98% of deliveries in Abu Dhabi, the capital of United Arab Emirates.