Marfanoid–progeroid–lipodystrophy syndrome

Marfan lipodystrophy syndromeMarfan-progeroid-lipodystrophy syndrome
Marfanoid–progeroid–lipodystrophy syndrome (MPL), also known as Marfan lipodystrophy syndrome (MFLS) or progeroid fibrillinopathy, is an extremely rare medical condition which manifests as a variety of symptoms including those usually associated with Marfan syndrome, an appearance resembling that seen in neonatal progeroid syndrome (NPS; also known as Wiedemann–Rautenstrauch syndrome), and severe partial lipodystrophy.wikipedia
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Lizzie Velásquez

Lizzie Velasquez
Lizzie Velásquez and Abby Solomon have become known publicly through the media for having the condition.
She was born with an extremely rare congenital disease called Marfanoid–progeroid–lipodystrophy syndrome that, among other symptoms, prevents her from accumulating body fat and gaining weight.

Marfan syndrome

Marfan's syndromeMarfanMarfanoid
Marfanoid–progeroid–lipodystrophy syndrome (MPL), also known as Marfan lipodystrophy syndrome (MFLS) or progeroid fibrillinopathy, is an extremely rare medical condition which manifests as a variety of symptoms including those usually associated with Marfan syndrome, an appearance resembling that seen in neonatal progeroid syndrome (NPS; also known as Wiedemann–Rautenstrauch syndrome), and severe partial lipodystrophy.
Marfanoid–progeroid–lipodystrophy syndrome (MPL), also referred to as Marfan lipodystrophy syndrome (MFLS), is a variant of MFS in which Marfan symptoms are accompanied by features usually associated with neonatal progeroid syndrome (also referred to as Wiedemann–Rautenstrauch syndrome) in which the levels of white adipose tissue are reduced.

Wiedemann–Rautenstrauch syndrome

neonatal progeroid syndromeWiedemann-Rautenstrauch syndromeWiedemann–Rautenstrauch (WR) syndrome
Marfanoid–progeroid–lipodystrophy syndrome (MPL), also known as Marfan lipodystrophy syndrome (MFLS) or progeroid fibrillinopathy, is an extremely rare medical condition which manifests as a variety of symptoms including those usually associated with Marfan syndrome, an appearance resembling that seen in neonatal progeroid syndrome (NPS; also known as Wiedemann–Rautenstrauch syndrome), and severe partial lipodystrophy.
Marfan lipodystrophy syndrome (MFLS) has sometimes been confused with Wiedemann–Rautenstrauch syndrome, since the Marfanoid features are progressive and sometimes incomplete.

Lipodystrophy

partial lipodystrophyfat redistributionabnormal fat deposition
Marfanoid–progeroid–lipodystrophy syndrome (MPL), also known as Marfan lipodystrophy syndrome (MFLS) or progeroid fibrillinopathy, is an extremely rare medical condition which manifests as a variety of symptoms including those usually associated with Marfan syndrome, an appearance resembling that seen in neonatal progeroid syndrome (NPS; also known as Wiedemann–Rautenstrauch syndrome), and severe partial lipodystrophy. In addition to severe lipodystrophy (loss of adipose tissue), individuals with MPL show a concomitant marked loss of lean tissue mass, which also contributes to their "skinny" appearance.

Asprosin

It is a genetic condition that is caused by mutations in the FBN1 gene, which encodes profibrillin, and affects the cleavage products of profibrillin, fibrillin-1, a fibrous structural protein, and asprosin, a glucogenic protein hormone.
The condition has since been named Marfanoid–progeroid–lipodystrophy syndrome.

Fibrillin 1

FBN1fibrillin-1profibrillin
It is a genetic condition that is caused by mutations in the FBN1 gene, which encodes profibrillin, and affects the cleavage products of profibrillin, fibrillin-1, a fibrous structural protein, and asprosin, a glucogenic protein hormone.
Mutations in the FBN1 gene are associated with Marfan syndrome and its variant Marfanoid–progeroid–lipodystrophy syndrome, autosomal dominant Weill-Marchesani syndrome, isolated ectopia lentis, MASS phenotype, and Shprintzen-Goldberg syndrome.

Disease

morbidityillnessdiseases
Marfanoid–progeroid–lipodystrophy syndrome (MPL), also known as Marfan lipodystrophy syndrome (MFLS) or progeroid fibrillinopathy, is an extremely rare medical condition which manifests as a variety of symptoms including those usually associated with Marfan syndrome, an appearance resembling that seen in neonatal progeroid syndrome (NPS; also known as Wiedemann–Rautenstrauch syndrome), and severe partial lipodystrophy.

Symptom

symptomsnon-specific symptomssymptomatic
Marfanoid–progeroid–lipodystrophy syndrome (MPL), also known as Marfan lipodystrophy syndrome (MFLS) or progeroid fibrillinopathy, is an extremely rare medical condition which manifests as a variety of symptoms including those usually associated with Marfan syndrome, an appearance resembling that seen in neonatal progeroid syndrome (NPS; also known as Wiedemann–Rautenstrauch syndrome), and severe partial lipodystrophy.

Genetic disorder

genetic diseasegenetic disordersgenetic diseases
It is a genetic condition that is caused by mutations in the FBN1 gene, which encodes profibrillin, and affects the cleavage products of profibrillin, fibrillin-1, a fibrous structural protein, and asprosin, a glucogenic protein hormone.

Mutation

mutationsgenetic mutationmutated
It is a genetic condition that is caused by mutations in the FBN1 gene, which encodes profibrillin, and affects the cleavage products of profibrillin, fibrillin-1, a fibrous structural protein, and asprosin, a glucogenic protein hormone.

Gene

genesnumber of genesgene sequence
It is a genetic condition that is caused by mutations in the FBN1 gene, which encodes profibrillin, and affects the cleavage products of profibrillin, fibrillin-1, a fibrous structural protein, and asprosin, a glucogenic protein hormone.

Bond cleavage

cleavagecleavedcleave
It is a genetic condition that is caused by mutations in the FBN1 gene, which encodes profibrillin, and affects the cleavage products of profibrillin, fibrillin-1, a fibrous structural protein, and asprosin, a glucogenic protein hormone.

Extracellular matrix

ECMmatrixextracellular matrices
It is a genetic condition that is caused by mutations in the FBN1 gene, which encodes profibrillin, and affects the cleavage products of profibrillin, fibrillin-1, a fibrous structural protein, and asprosin, a glucogenic protein hormone.

Protein

proteinsproteinaceousstructural proteins
It is a genetic condition that is caused by mutations in the FBN1 gene, which encodes profibrillin, and affects the cleavage products of profibrillin, fibrillin-1, a fibrous structural protein, and asprosin, a glucogenic protein hormone.

Gluconeogenesis

gluconeogenicgluconeogenic pathwayglucogenic
It is a genetic condition that is caused by mutations in the FBN1 gene, which encodes profibrillin, and affects the cleavage products of profibrillin, fibrillin-1, a fibrous structural protein, and asprosin, a glucogenic protein hormone.

Peptide hormone

peptide hormonesprotein hormonepolypeptide hormone
It is a genetic condition that is caused by mutations in the FBN1 gene, which encodes profibrillin, and affects the cleavage products of profibrillin, fibrillin-1, a fibrous structural protein, and asprosin, a glucogenic protein hormone.

Adipose tissue

adiposebody fatfat
In addition to severe lipodystrophy (loss of adipose tissue), individuals with MPL show a concomitant marked loss of lean tissue mass, which also contributes to their "skinny" appearance.

Lean body mass

lean massmasslean
In addition to severe lipodystrophy (loss of adipose tissue), individuals with MPL show a concomitant marked loss of lean tissue mass, which also contributes to their "skinny" appearance.

Congenital generalized lipodystrophy

Berardinelli-Seip syndromegeneralised lipodystrophyBerardinelli-Seip congenital lipodystrophy
Based on visual inspection, it was originally thought that the lipodystrophy associated with MPL was generalized.

Face

human facefacialfacial feature
However, it appears in fact to be partial, being confined to the face, distal extremities, and the paravertebral and lateral regions of the buttocks.

Anatomical terms of location

ventraldorsalanterior
However, it appears in fact to be partial, being confined to the face, distal extremities, and the paravertebral and lateral regions of the buttocks.

Limb (anatomy)

limblimbsextremities
However, it appears in fact to be partial, being confined to the face, distal extremities, and the paravertebral and lateral regions of the buttocks.

Buttocks

buttockassarse
However, it appears in fact to be partial, being confined to the face, distal extremities, and the paravertebral and lateral regions of the buttocks.

Subcutaneous tissue

subcutaneoussubcutaneous fathypodermis
Normal amounts of subcutaneous fat are found in the torso over the chest and abdomen.

Torso

trunkupper bodyDorsal cutaneous branches
Normal amounts of subcutaneous fat are found in the torso over the chest and abdomen.