Mandibuloacral Dysplasia with Type A Lipodystrophy; MADA

Mandibuloacral Dysplasia with Type A Lipodystrophy; MADA

OMIM number: 248370

Comments closing date: 10/03/2023

Mandibuloacral dysplasia with type A
lipodystrophy (MADA) is an recessive disorder,
caused by a mutation in the LMNA gene. People
with MADA typically do not grow fully/as fast after
birth, so this is a condition first noticed in early
childhood. They suffer from severe anomalies of
their skull, jaw and face. This includes having
notably prominent eyes and overcrowding of teeth
which are often easily fall-out. In addition the
condition usually involves skeletal abnormalities
and pigmentary skin changes. The lipodystrophy
part of the condition causes loss of fatty tissue in
some areas with normal or increased fatty tissue
in others including the neck and torso. Often
further metabolic complications occur due to
insulin resistance and diabetes.

Share information with the HFEA