Disease Information for Mulibrey Nanism syndrome

Growth retardation associated with muscle, liver, brain, and eye abnormalities marked by hypotonia, congestive pericarditis with elevated venous pressure, triangular face often with hydrocephaloid skull, hepatomegaly, yellowish dots and pigment dispersion in the fundus oculi, and borderline mental deficiency; Most reported cases come from Finland;----------------------------------------------------.Nanism Syndrome (Perheentupa Syndrome); Constrictive Pericarditis with Dwarfism; Dwarfism-Pericarditis; Mulibrey Dwarfism; Perheentupa Syndrome; Pericardial Constriction with Growth Failure; Mulibrey Nanism Syndrome (Perheentupa Syndrome) is an extremely rare inherited disorder characterized by profound growth delays (dwarfism) and distinctive abnormalities of the muscles, liver, brain, and eyes; The acronym MULIBREY stands for (MU)scle, (LI)ver, (BR)ain, and (EY)e; "Nanism" is another word for "dwarfism;" Characteristic symptoms may include low birth weight, short stature, and severe progressive growth delays; Muscles are usually underdeveloped and lack normal tone (hypotonia); Some infants with this disorder may have an abnormally large liver (hepatomegaly); Other findings may include abnormal widening (dilation) of the spaces surrounding the brain (cerebral ventricles) and the excessive accumulation of fluid (cerebrospinal) around the brain (hydrocephalus); Infants with Mulibrey Nanism typically have yellow discolorations in their eyes; In addition, a portion of the inner layer of the eyes may be underdeveloped (choriocapillaris hypoplasia); Vision may also be impaired (amblyopia);

Infants with Mulibrey Nanism Syndrome may also experience symptoms related to overgrowth of the fibrous sac that surrounds the heart (constrictive pericarditis); Symptoms may include excessive fluid in the lungs (pulmonary effusion) and abnormal fluid accumulation in the abdomen (ascites); Other related symptoms may include unusual swelling of the arms and/or legs (peripheral edema) and/or enlargement of the heart; Mulibrey Nanism Syndrome is inherited as an autosomal recessive genetic trait; [NORD]

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