facial ectodermal dysplasia

Setleis Syndrome

Clinical Characteristics
Ocular Features: 

The eyebrows slant upward and the lashes may be absent or appear in double rows as in distichiasis.  The periorbital skin can appear 'puckered with puffiness'.  The palpebral fissures appear short in some individuals.

Systemic Features: 

This condition is associated with a variety of facial skin anomalies.  The overall facial appearance has been described as 'leonine".  The facial skin often has some redundancy with a rubbery feel and may appear 'puffy' or wrinkled and puckered about the eyes. The lips are large.  The overall appearance has been described as 'leonine'. The nasal ridge can be flat and the nose can have a bulbous tip.  The teeth may be conical in shape.

Genetics

The genetic basis for this disorder seems to lie in heterozygous mutations in the TWIST2 gene (2q37.3).  Parent to child transmission has also been reported for some features but the signs in parents may be subtle.. 

The TWIST2 mutation was not present in several unrelated probands suggesting there is some genetic heterogeneity. Further, Brauer syndrome (136500) (focal facial dermal dysplasia or FFDD type I) is clinically somewhat similar to Setleis syndrome with respect to the distribution and nature of facial skin lesions and it has been suggested that the two disorders may be one and the same.  The gene responsible for Brauer syndrome has not been found but the condition is inherited in autosomal dominant fashion.  It is possible therefore that families labeled Setleis with an AD pattern of transmission actually have Brauer syndrome.  It should also be noted that the ablepharon-macrostonia syndrome (200110) and Barber-Say syndrome (209885) are also caused by mutations in TWIST2 and have some features in common with Setleis syndrome.

 

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

No treatment has been reported.

References
Article Title: 

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC. Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. Am J Hum Genet. 2015 Jul 2;97(1):99-110.

PubMed ID: 
26119818
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