Mulibrey nanism | |
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Other names | Perheentupa syndrome and Pericardial constriction with growth failure [1] |
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Mulibrey nanism has an autosomal recessive pattern of inheritance. | |
Specialty | Rheumatology, medical genetics ![]() |
Symptoms | Infertility [1] |
Causes | Mutation of the TRIM37 gene [2] |
Diagnostic method | Genetic testing [3] |
Treatment | Growth hormone treatment, Regular pelvic exams [4] |
Mulibrey nanism ("MUscle-LIver-BRain-EYe nanism") is a rare autosomal recessive congenital disorder. It causes severe growth failure along with abnormalities of the heart, muscle, liver, brain and eye. TRIM37 is responsible for various cellular functions including developmental patterning. [5] [6] [7]
An individual with Mulibrey nanism has growth retardation, a short broad neck, misshapen sternum, small thorax, square shoulders, enlarged liver, and yellowish dots in the ocular fundi. [1] [7] [8] Individuals with Mulibrey nanism have also been reported to have intellectual disability, tumors, and infertility. [1]
Mulibrey nanism is caused by mutations of the TRIM37 gene, [2] located at human chromosome 17q22-23. [9] The disorder is inherited in an autosomal recessive manner. [7] 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 one copy of the defective gene, but usually do not experience any symptoms of the disorder.[ medical citation needed ]
The diagnosis of Mulibrey nanism can be done via genetic testing, [3] as well as by the physical characteristics (signs/symptoms) displayed by the individual. [10]
In terms of treatment/management for those with Mulibrey nanism should have routine medical follow-ups, additionally the following can be done: [4]
Worldwide, it has been documented in 110 persons, 85 of them Finnish. It is a recessive genetic disease. Many people with Mulibrey nanism have parents who are closely related, consanguine. Signs and symptoms are variable: siblings who suffer this disease sometimes do not share the same symptoms. [1]
A genetic disorder or genetic brain injury (GBI), is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development, or it can be inherited from two parents who are carriers of a faulty gene or from a parent with the disorder. When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA.
Sabinas brittle hair syndrome, also called Sabinas syndrome or brittle hair-mental deficit syndrome, is an autosomal recessive congenital disorder affecting the integumentary system.
Berdon syndrome, also called Megacystis-microcolon-intestinal hypoperistalsis syndrome, is an autosomal recessive fatal genetic disorder affecting newborns. In a 2011 study of 227 children with the syndrome, "the oldest survivor [was] 24 years old." The Ann Arbor News reported a five year old survivor at the end of 2015.
Fukuyama congenital muscular dystrophy (FCMD) is a rare, autosomal recessive form of muscular dystrophy mainly described in Japan but also identified in Turkish and Ashkenazi Jewish patients; fifteen cases were first described on 1960 by Dr. Yukio Fukuyama.
Spondyloperipheral dysplasia is an autosomal dominant disorder of bone growth. The condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly). Some affected individuals also have other skeletal abnormalities, short stature, nearsightedness (myopia), hearing loss, and mental retardation. Spondyloperipheral dysplasia is a subtype of collagenopathy, types II and XI.
Short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) is an autosomal recessive fatty acid oxidation disorder which affects enzymes required to break down a certain group of fats called short chain fatty acids.
Autosomal recessive multiple epiphyseal dysplasia (ARMED), also called epiphyseal dysplasia, multiple, 4 (EDM4), multiple epiphyseal dysplasia with clubfoot or –with bilayered patellae, is an autosomal recessive congenital disorder affecting cartilage and bone development. The disorder has relatively mild signs and symptoms, including joint pain, scoliosis, and malformations of the hands, feet, and knees.
Isobutyryl-coenzyme A dehydrogenase deficiency is a rare metabolic disorder in which the body is unable to process certain amino acids properly.
Carbamoyl phosphate synthetase I deficiency is an autosomal recessive metabolic disorder that causes ammonia to accumulate in the blood due to a lack of the enzyme carbamoyl phosphate synthetase I. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.
Cerebrotendinous xanthomatosis, also called cerebral cholesterosis, is an autosomal recessive form of xanthomatosis. It falls within a group of genetic disorders called the leukodystrophies.
Kaufman oculocerebrofacial syndrome is an autosomal recessive congenital disorder characterized by mental retardation, brachycephaly, upslanting palpebral fissures, eye abnormalities, and highly arched palate. It was characterized in 1971; eight cases had been identified as of 1995.
Naegeli–Franceschetti–Jadassohn syndrome (NFJS), also known as chromatophore nevus of Naegeli and Naegeli syndrome, is a rare autosomal dominant form of ectodermal dysplasia, characterized by reticular skin pigmentation, diminished function of the sweat glands, the absence of teeth and hyperkeratosis of the palms and soles. One of the most striking features is the absence of fingerprint lines on the fingers.
Bietti's crystalline dystrophy (BCD) is a rare autosomal recessive eye disease named after Dr. G. B. Bietti.
Rothmund–Thomson syndrome (RTS) is a rare autosomal recessive skin condition.
Hypervalinemia is a rare autosomal recessive metabolic disorder in which urinary and serum levels of the branched-chain amino acid valine are elevated, without related elevation of the branched-chain amino acids leucine and isoleucine. It is caused by a deficiency of the enzyme valine transaminase.
Woodhouse–Sakati syndrome, is a rare autosomal recessive multisystem disorder which causes malformations throughout the body, and deficiencies affecting the endocrine system.
Antley–Bixler syndrome is a rare, very severe autosomal recessive congenital disorder characterized by malformations and deformities affecting the majority of the skeleton and other areas of the body.
Chronic mucocutaneous candidiasis is an immune disorder of T cells, it is characterized by chronic infections with Candida that are limited to mucosal surfaces, skin, and nails. It can also be associated with other types of infections, such as human papilloma virus. An association with chromosome 2 has been identified.
Marden–Walker syndrome (MWS) is a rare autosomal recessive congenital disorder. It is characterized by blepharophimosis, microcephaly, micrognathia, multiple joint contractures, arachnodactyly, camptodactyly, kyphoscoliosis and delayed motor development and is often associated with cystic dysplastic kidneys, dextrocardia, Dandy–Walker malformation and agenesis of corpus callosum.
Nakajo syndrome, also called nodular erythema with digital changes, is a rare autosomal recessive congenital disorder first reported in 1939 by A. Nakajo in the offspring of consanguineous parents. The syndrome can be characterized by erythema, loss of body fat in the upper part of the body, and disproportionately large eyes, ears, nose, lips, and fingers.
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