Health

Arterial tortuosity syndrome Autosomal recessive condition of connective tissue associated with mutations in SLC2A10 (solute carrier family 2 member 10) Features overlapping with Marfan syndrome include numerous skeletal findings (eg, joint laxity, scoliosis, pectus excavatum/carinatum, arachnodactyly, high-arched palate with dental crowding), easy development of hernias (eg, inguinal/abdominal wall, hiatal, diaphragmatic), and ocular involvement (eg, myopia); typically patients …

Arterial tortuosity syndrome Read More »

Loeys Dietz syndrome Autosomal dominant connective tissue disorder associated with mutations in genes involved in function of transforming growth factor β (TGFBR1, TGFBR2, and possibly TGFB2 and SMAD3 ); it has many features in common with Marfan syndrome  Common features include skeletal manifestations (eg, high-arched palate, malar hypoplasia, micrognathia, retrognathia, pectus deformity, scoliosis, arachnodactyly, joint laxity, mild dolichocephaly), facial …

Loeys Dietz syndrome Read More »

Velocardiofacial syndrome Congenital connective tissue disorder that presents with ocular hypertelorism, dysmorphic facies, craniosynostosis, intellectual disability, mild aortic root enlargement, and several skeletal features that are typical for patients with Marfan syndrome  Most often caused by de novo mutations in SKI gene, which encodes a regulator protein of transforming growth factor β; an FBN1 mutation is implicated in case …

Velocardiofacial syndrome (Shprintzen-Goldberg syndrome) Read More »

Familial ectopia lentis syndrome Autosomal dominant condition caused by a variety of mutations (eg, FBN1, ADAMTSL4, LTBP2) that presents with ectopia lentis and some variable skeletal features similar to those observed in the Marfan phenotype  Diagnosis is difficult to discriminate from emerging Marfan syndrome; therefore, it is usually established in patients aged 20 years or older Differentiate by …

Familial ectopia lentis syndrome Read More »

MASS phenotype MASS phenotype is a familial connective tissue disorder similar to Marfan syndrome that affects different people in different ways. MASS is an acronym for features of the disorder that may be present: Mitral valve prolapse – a heart condition in which the two valve flaps of the mitral valve in the heart do not close smoothly or evenly, and …

MASS phenotype Read More »

Potential Marfan syndrome Preferred diagnostic term for patients younger than 20 years presenting with sporadic or familial FBN1 mutation without significantly dilated aortic root measurements (ie, aortic root measurement has not reached z score of 3 or more) May represent emerging Marfan syndrome Differentiate from Marfan syndrome by clinical course with serial physical and ophthalmologic examinations to assess for …

Potential Marfan syndrome Read More »

Nonspecific connective tissue disorder Preferred diagnostic term for patients younger than 20 years presenting with Ghent systemic system score less than 7 and/or borderline aortic root measurements (ie, z score less than 3) without an associated FBN1 mutation May represent emerging Marfan syndrome Differentiate from Marfan syndrome by clinical course with serial physical and ophthalmologic examinations to assess for …

Nonspecific connective tissue disorder Read More »