OMIM ID:
Marfan Lipodystrophy Syndrome
Alternate Names
Defective Genes
Clinical Characteristics
Ocular Features
The eyes are large resulting in high myopia and apparent proptosis. The palpebral fissures usually slant downwards and ectopia lentis may be present.
Systemic Features
This syndrome shares many features of Marfan syndrome (154700) such as tall stature, dislocated lenses, myopia, high arched palate, aortic root and valvular anomalies, arachnodactyly, high arched palate, lax and hyperextensible joints, and pectus excavatum. In addition, MFLS patients have retrognathia, intrauterine growth retardation, scarce or absent subcutaneous fat, a progeroid facies, and sometimes macrocephaly. Postnatal growth and psychomotor development have been reported to be normal albeit with slow weight gain.
Genetics
Inheritance
This condition is transmitted as an autosomal dominant as the result of heterozygous mutations in FBN1 (15q21.1). The same gene is mutated in 6 other conditions in this database including Marfan Syndrome (154700) with which it shares some features.
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission