Facial Ectodermal Dysplasia by fjzhxb


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Facial Ectodermal Dysplasia
Alternative Names Bitemporal Forceps Marks Syndrome Setleis Syndrome Focal Facial Dermal Dysplasia, Type II FFDD, Type II WHO International Classification of Diseases Congenital malformations, deformations and chromosomal abnormalities OMIM Number 227260 Mode of Inheritance Autosomal recessive Description Setleis syndrome is an extremely rare autosomal recessive disorder that belongs to a group of diseases known as ectodermal dysplasias. Ectodermal dysplasia syndromes are a large, heterogeneous, nosologic group of disorders that share primary defects in the development of two or more tissues derived from ectoderm. These tissues primarily are the skin, hair, nails, eccrine glands, and teeth. Setleis syndrome is characterized by cutis aplasia or atrophic skin at the temples, which is said to resemble forceps marks. There may also be a coarse facial appearance, anomalies of the eyelashes and eyebrows, and periorbital puffiness. The mouth has a typical appearance with large lips, inverted "V" contour, and down turned overly defined corners. and macrostomia. The proband presented at birth with small with two pressure points on both temporal areas. Examination at 11 months of age revealed the following dysmorphic features: bitemporal focal dermal defects, short palpebral fissures, puffy and wrinkly skin around the eyes, a short philtrum, and low-set ears. The father of the affected male had bitemporal scars, but no other characteristics of the syndrome. The proband, a 19-year-old male, revealed the following dysmorphic features: coarse features, bitemporal focal dermal defects, absent eyelashes on the lower lid, puffy skin around the eyes, a large nose, and bow-shaped lips with down-turned corners and a tram-line crease below the lower lips. AlGazali and Al-Talabani (1996) concluded that the manifestations in heterozygotes may represent clinical abnormalities or be the result of reduced penetrance of an autosomal dominant gene. United Arab Emirates Al Talabani et al. (1998) studied the pattern of major congenital malformations in 24,233 consecutive live and stillbirth at 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, 76% were due to autosomal recessive disorders. In their study, Al Talabani et al. (1998) observed one case of Setleis syndrome in a consanguineous family from the United Arab Emirates. Recurrence of the disease was reported in the family. 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.

Epidemiology in the Arab World Oman In 1996, Al-Gazali and Al-Talabani described two cases of Setleis syndrome in a multiply consanguineous Omani family. The mother of the female proband had mild dysmorphic features reminiscent of this syndrome such as a large nose with a long septum, a short philtrum,

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References Al Talabani J, Shubbar AI, Mustafa KE. Major congenital malformations in United Arab Emirates (UAE): need for genetic counselling. Ann Hum Genet. 1998; 62 (Pt 5):411-8. Al-Gazali LI, al-Talabani J. Setleis syndrome: autosomal recessive or autosomal dominant

inheritance? Clin 5(3):249-53.




Contributors Ghazi O. Tadmouri: 24.10.2005 Ghazi O. Tadmouri: 12.7.2005 Sarah Al-Haj Ali: 9.5.2005

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