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Disease Profile
MECP2 duplication syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
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Age of onset
Neonatal
ICD-10
Q99.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
MRXSL; XLMR syndrome, Lubs type; Trisomy Xq28
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
MECP2
Treatment is individualized and based on the signs and symptoms in each person. Treatment may involve routine management of feeding difficulties, infections, developmental delays, spasticity, and seizures.[1][2] Respiratory infections are a major cause of death, with only half of people surviving past 25 years of age.[3]
Symptoms
Hypotonia (low muscle tone), which is usually apparent in infancy.- Delayed development of milestones.
- Moderate to severe
intellectual disability . - Inability to talk, or limited speech ability that may be lost with age.
- Needing assistance to walk or inability to walk.
- Progressive
spasticity during childhood, which is generally worse in the legs. This may lead to the development of mildcontractures . - Recurrent respiratory infections (in about 75% of people). Respiratory infections can be life-threatening and are a major cause of death.
Seizures (in about 50%).- Feeding difficulties which may require a feeding tube.
- Distinctive head or facial features, such as brachycephaly (abnormally flat back of the head), midface hypoplasia (underdevelopment of the middle of the face), large ears, deep-set eyes, prominent chin, and a depressed nasal bridge.
Other signs and symptoms may include trouble swallowing, gastroesophageal reflux, failure to thrive, excessive drooling, autistic features, and bowel or bladder problems.[1][2]
Most females with a MECP2 duplication generally do not have symptoms, although depression, anxiety, and autistic features have been described in some women with the duplication.[1] Very rarely, females have severe signs and symptoms, similar to those in males with the syndrome.[1][2][3]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
||
---|---|---|---|---|
80%-99% of people have these symptoms | ||||
Abnormality of |
0002916 | |||
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 | ||
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 | ||
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 | ||
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 | ||
Everted lower lip vermilion |
Drooping lower lip
Outward turned lower lip
[ more ] |
0000232 | ||
Hypospadias | 0000047 | |||
Intellectual disability, severe |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 | ||
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ] |
0002167 | ||
Drooping upper eyelid
|
0000508 | |||
Severe global |
0011344 | |||
Decreased body height
Small stature
[ more ] |
0004322 | |||
Tented upper lip vermilion | 0010804 | |||
30%-79% of people have these symptoms | ||||
Gait disturbance |
Abnormal gait
Abnormal walk
Impaired gait
[ more ] |
0001288 | ||
Hernia of the abdominal wall | 0004299 | |||
Pectus excavatum |
Funnel chest
|
0000767 | ||
5%-29% of people have these symptoms | ||||
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 | ||
Percent of people who have these symptoms is not available through HPO | ||||
Abnormality of metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ] |
0001939 | ||
Abnormality of the dentition |
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ] |
0000164 | ||
Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ] |
0001344 | ||
Anxiety |
Excessive, persistent worry and fear
|
0000739 | ||
0001251 | ||||
Brachycephaly |
Short and broad skull
|
0000248 | ||
Bruxism |
Teeth grinding
|
0003763 | ||
Chorea | 0002072 | |||
Constipation | 0002019 | |||
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 | ||
Depressivity |
Depression
|
0000716 | ||
Drooling |
Dribbling
|
0002307 | ||
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |||
Facial hypotonia |
Decreased facial muscle tone
Low facial muscle tone
Reduced facial muscle tone
[ more ] |
0000297 | ||
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 | ||
Hostility | 0031473 | |||
Infantile muscular hypotonia |
Decreased muscle tone in infant
|
0008947 | ||
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | ||
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 | ||
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 | ||
Macrotia |
Large ears
|
0000400 | ||
Malar flattening |
Zygomatic flattening
|
0000272 | ||
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |||
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 | ||
Narrow mouth |
Small mouth
|
0000160 | ||
Poor eye contact | 0000817 | |||
Progressive |
Worsens with time
|
0003676 | ||
Progressive spasticity | 0002191 | |||
Psychomotor retardation | 0025356 | |||
Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 | ||
Rigidity |
Muscle rigidity
|
0002063 |
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnoses include Prader-Willi syndrome and Alpha thalassaemia-mental retardation, X linked (ATR-X) syndrome (see these terms).
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
MECP2 Duplication UK
Telephone: 0770 420 1468
E-mail: https://mecp2duplicationuk.org.uk/#contact
Website: https://mecp2duplicationuk.org.uk/ -
Rett Syndrome Research Trust
67 Under Cliff Road
Trumbull, CT 06611
Telephone: +1-203-445-0041
E-mail: info@rsrt.org
Website: https://reverserett.org/ -
Unique – Rare Chromosome Disorder Support Group
G1, The Stables
Station Road West
Surrey
RH8 9EE
United Kingdom
Telephone: +44 (0)1883 723356
E-mail: info@rarechromo.org
Website: https://www.rarechromo.org/
Social Networking Websites
- Visit the following Facebook groups related to MECP2 duplication syndrome:
MECP2 Duplication Syndrome Family Talk
Females With MECP2 (Xq28) Duplication Support Group
Organizations Providing General Support
-
American Association on Intellectual and Developmental Disabilities
501 3rd Street NW
Suite 200
Washington, DC 20001
Toll-free: (800) 424-3688
Telephone: (202) 387-1968
Fax: (202) 387-2193
Website: https://www.aaidd.org -
The Arc of the United States
1825 K Street, NW
Suite 1200
Washington, DC, DC 20006
Toll-free: 1-(800) 433-5255
Telephone: +1-202-534-3700
Fax: +1-202-534-3731
E-mail: info@thearc.org
Website: https://www.thearc.org/ -
The Society for Developmental and Behavioral Pediatrics
6728 Old McLean Village Drive
McLean, VA 22101
Telephone: 703-556-9222
E-mail: info@sdbp.org
Website: https://www.sdbp.org/index.cfm
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- MedlinePlus Genetics contains information on MECP2 duplication syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about MECP2 duplication syndrome.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss MECP2 duplication syndrome. Click on the link to view a sample search on this topic.
References
- Esch HV. MECP2 Duplication Syndrome. GeneReviews. October 2014; https://www.ncbi.nlm.nih.gov/books/NBK1284/.
- MECP2 Duplication Syndrome. NORD. 2017; https://rarediseases.org/rare-diseases/mecp2-duplication-syndrome/.
- MECP2 duplication syndrome. Genetics Home Reference. March, 2017; https://ghr.nlm.nih.gov/condition/mecp2-duplication-syndrome.
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