Disease Information for Mulibrey Nanism syndrome

Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Delicate narrow/triangular facies
Facies particular
Forehead/prominent veins
Cervical venous pressure increased sign
Jugular Veins Increased Volume
Jugular Venous Distension
Jugular venous pressure increased
Port wine Stain Birthmark
Poor weight gain/child
Liver smooth enlarged
Palpable Liver/Hepatomegaly
Muscle Atrophy
High-pitched voice
Dysmorphic appearance/face
Muscle Wasting/Diffuse
Short stature
Short stature Child
Ophthalmoscopic/Fundoscopic exam/abnormal
Retinal yellow dots
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Presentation/Congestive heart failure Child
Presentation/Recurrent Pericarditis
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Population/Pediatrics population
Family History
Family history/Dwarfism
Sex & Age Groups
Population/Child-Infant Only
Laboratory Tests
Abnormal Lab Findings - Increased
Pericardial Fluid Abnormal
Diagnostic Test Results
Other Tests & Procedures
Heart cath/Venous pressure increased/cvp
CT Scan
CT Scan/Head Ventricular dilatation/normal cortex
Xray/Bone, cortical thickening, widespread
Xray/J-Shaped sella/shallow/Skull
Xray/Long bones abnormality/Skeletal
Xray/Long bones narrow medullary canal/thick cortex
Xray/Tibia fibrous dysplasia
Echo/Distended IVC/Vena cava
Echo/Echocardiogram Abnormal
Echo/Normal IVC collapse absent
Echo/Thick pericardium wall
Ultrasound/IVC Fails Collapse on Inspiration
Associated Diseases & Rule outs
Associated Disease & Complications
Constrictive pericarditis/chronic
Growth retardation/failure
Hepatic congestion/centrolobular necrosis syndrome
Pericarditis, acute
Pericarditis, secondary
Port wine nevus/Nevus flammeus/facial
Pulmonary edema
Heart Failure in a Child
Disease Mechanism & Classification
CLASS/Pericardial disorder (ex)
CLASS/Systemic/no comment (category)
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Central venous pressure increased
Pathophysiology/Decreased venous return/pooling
Pathophysiology/High cardiac filling pressures/venous return
Pathophysiology/Venous stasis/liver blood flow
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Dystostosis/craniofacial (ex)
constrictive pericarditis dwarfism syndrome, dwarfism pericarditis syndrome, growth failure pericardial constriction syndrome, mulibrey (muscle liver brain eye) nanism or dwarfism, Mulibrey Nanism, Mulibrey Nanism Syndrome, Mulibrey nanism syndrome (disorder), Muscle Liver Brain Eye Nanism, nanism constrictive pericarditis syndrome, Nanism Mulibrey, Nanism Muscle Liver Brain Eye, Nanism Syndrome Mulibrey, Perheentupa Syndrome, PERICARDIAL CONSTRICTION AND GROWTH FAILURE, pericardial constriction growth failure syndrome, Syndrome Mulibrey Nanism, Syndrome Perheentupa, Synonym/Dwarfism with constrictive pericarditis, Synonym/Dwarfism/constrictive pericarditis syndrome, Synonym/Three-M slender bone nanism/3-MSBN

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]


External Links Related to Mulibrey Nanism syndrome
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)