Mulibrey nanism ("MUscle-LIver-BRain-EYe nanism") is a rare

autosomal An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosom ...

recessive In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...

congenital disorder A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities ca ...

. It causes severe growth failure along with abnormalities of the

heart The heart is a muscular organ in most animals. This organ pumps blood through the blood vessels of the circulatory system. The pumped blood carries oxygen and nutrients to the body, while carrying metabolic waste such as carbon dioxide to t ...

, muscle,

liver The liver is a major organ only found in vertebrates which performs many essential biological functions such as detoxification of the organism, and the synthesis of proteins and biochemicals necessary for digestion and growth. In humans, it ...

brain A brain is an organ that serves as the center of the nervous system in all vertebrate and most invertebrate animals. It is located in the head, usually close to the sensory organs for senses such as vision. It is the most complex organ in a ve ...

and eye. TRIM37 is responsible for various cellular functions including developmental patterning.

Signs/symptoms

An individual with Mulibrey nanism has growth retardation, a short broad neck, misshapen

sternum The sternum or breastbone is a long flat bone located in the central part of the chest. It connects to the ribs via cartilage and forms the front of the rib cage, thus helping to protect the heart, lungs, and major blood vessels from injury. Sha ...

, small

thorax The thorax or chest is a part of the anatomy of humans, mammals, and other tetrapod animals located between the neck and the abdomen. In insects, crustaceans, and the extinct trilobites, the thorax is one of the three main divisions of the cre ...

, square

shoulders The human shoulder is made up of three bones: the clavicle (collarbone), the scapula (shoulder blade), and the humerus (upper arm bone) as well as associated muscles, ligaments and tendons. The articulations between the bones of the shoulder mak ...

, enlarged

, and yellowish dots in the

ocular Eyes are organs of the visual system. They provide living organisms with vision, the ability to receive and process visual detail, as well as enabling several photo response functions that are independent of vision. Eyes detect light and con ...

fundi.OMIM (1966-2009). Mulibrey nanism. NCBI (Johns Hopkins University). Retrieved May 7, 2009 from, https://www.ncbi.nlm.nih.gov/omim/?term=253250 Individuals with Mulibrey nanism have also been reported to have

intellectual disability Intellectual disability (ID), also known as general learning disability in the United Kingdom and formerly mental retardation, Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by signif ...

tumors A neoplasm () is a type of abnormal and excessive growth of tissue. The process that occurs to form or produce a neoplasm is called neoplasia. The growth of a neoplasm is uncoordinated with that of the normal surrounding tissue, and persists ...

, and infertility.

Genetics

Human male karyotpe high resolution - Chromosome 17 cropped

Mulibrey nanism is caused by mutations of the TRIM37

gene In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...

, located at human

chromosome A chromosome is a long DNA molecule with part or all of the genetic material of an organism. In most chromosomes the very long thin DNA fibers are coated with packaging proteins; in eukaryotic cells the most important of these proteins are ...

17q22-23. The disorder is inherited in an

manner. This means the defective gene responsible for the disorder is located on an autosome (chromosome 17 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both

carry Carry or carrying may refer to: People *Carry (name) Finance * Carried interest (or carry), the share of profits in an investment fund paid to the fund manager * Carry (investment), a financial term: the carry of an asset is the gain or cost of h ...

one copy of the defective gene, but usually do not experience any symptoms of the disorder.

Diagnosis

The diagnosis of Mulibrey nanism can be done via genetic testing, as well as by the physical characteristics (signs/symptoms) displayed by the individual.

Treatment

Growth hormone In terms of treatment/management for those with Mulibrey nanism should have routine medical follow-ups, additionally the following can be done: *

Growth hormone Growth hormone (GH) or somatotropin, also known as human growth hormone (hGH or HGH) in its human form, is a peptide hormone that stimulates growth, cell reproduction, and cell regeneration in humans and other animals. It is thus important in h ...

treatment * Regular

pelvic The pelvis (plural pelves or pelvises) is the lower part of the trunk, between the abdomen and the thighs (sometimes also called pelvic region), together with its embedded skeleton (sometimes also called bony pelvis, or pelvic skeleton). The p ...

exams * Pericardiectomy

Prevalence

Worldwide, it has been documented in 110 persons, 85 of them

Finnish Finnish may refer to: * Something or someone from, or related to Finland * Culture of Finland * Finnish people or Finns, the primary ethnic group in Finland * Finnish language, the national language of the Finnish people * Finnish cuisine See also ...

. It is a

genetic disease. Many people with Mulibrey nanism have parents who are closely related,

consanguine Consanguinity ("blood relation", from Latin '' consanguinitas'') is the characteristic of having a kinship with another person (being descended from a common ancestor). Many jurisdictions have laws prohibiting people who are related by blood fro ...

. Signs and symptoms are variable: siblings who suffer this disease sometimes do not share the same symptoms.

References

External links

{{Medicine Autosomal recessive disorders Congenital disorders Rare diseases