Clinical Characteristics
Ocular Features
Several families have been reported in which the ocular features were similar to Weill-Marchesani syndromes WMS1 and WMS2 but lacked most of the skeletal features. The ocular abnormalities included: myopia, ectopia lentis, spherophakia, and glaucoma. Shallow anterior chambers and peripheral iris synechiae are often present. Axial length ranges from 21 to 23 mm.
Systemic Features
Short stature is a feature of this syndrome but brachydactyly and decreased joint mobility are not present. Height is usually below the 25th percentile and often at the third or 5th percentile.
Genetics
Inheritance
This is an autosomal recessive disorder resulting from mutations in ADAMTS17 (15q26.3). See also Weill-Marchesani Syndrome 1 (277600), and Weill-Marchesani Syndrome 2 (608328) for other conditions with clinical similarities but caused by different mutations.
Homozygous mutations in LTBP2 (14q24.3) have also been found in this disorder and in WMS1 (277600).
Pedigree
Autosomal recessive
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.