Rare Medical News

Disease Profile

MOMO syndrome

Prevalence
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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

Q87.3

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

Macrosomia, obesity, macrocephaly, ocular abnormalities; Macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus)

Categories

Congenital and Genetic Diseases; Endocrine Diseases

Summary

MOMO syndrome was named for the features associated with the syndrome including macrosomia (being larger than expected from birth), obesity, macrocephaly (having a large head size) and ocular (eye) abnormalities. It has also been proposed that mental (intellectual) disability may be used as an identifying feature of the syndrome instead of macrosomia, as macrosomia has not been reported in all affected individuals. MOMO syndrome is very rare, with only about a dozen reported cases in the scientific literature.[1]

The exact cause of MOMO syndrome is unknown. One report has identified that the LINC00237 gene may be the cause of MOMO syndrome.[2] Both autosomal dominant and autosomal recessive inheritance patterns have been suggested. MOMO syndrome is diagnosed when a doctor observes signs consistent with the syndrome. Tests may be completed to rule out other genetic syndromes. Treatment for the syndrome depends on the exact features that each person has.

Symptoms

MOMO syndrome is associated with macrosomia (being larger than expected from birth), obesity, macrocephaly (having a large head size) and ocular (eye) abnormalities. Some of the eye abnormalities may include coloboma or uncontrolled movement of the eye (nystagmus). The symptoms of MOMO syndrome begin at birth. Babies are typically larger than expected, and they may have low muscle tone (hypotonia). Children with the syndrome also typically meet milestones such as walking later than expected (developmental delay) and have intellectual disability.[1] Other features may include seizures, bowing of the legs, and slower maturation of the bones (delayed bone age).[1][2]

Although intellectual disability has been present in all individuals with MOMO syndrome, the severity of intellectual disability may vary. Some people have been described as having autism or detached behavior. Children with MOMO syndrome typically have speech delay, meaning they learn to talk later than other children and may not have the ability to speak as many words as other children.[2]

People with MOMO syndrome tend to have distinctive facial features. These facial features can include having eyes that slant upward or downward, a flat nasal bridge, and a short round head (brachycephaly).[1]

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
100% of people have these symptoms
Obesity
Having too much body fat
0001513
30%-79% of people have these symptoms
Abnormal bone ossification
0011849
Bilateral microphthalmos
Abnormally small eyeball on both sides
0007633
Brachycephaly
Short and broad skull
0000248
Broad forehead
Increased width of the forehead
Wide forehead

[ more ]

0000337
Chorioretinal coloboma
Birth defect that causes a hole in the innermost layer at the back of the eye
0000567
Cutis marmorata
0000965
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption

[ more ]

0000684
Dental malocclusion
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches

[ more ]

0000689
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Eyelid coloboma
Cleft eyelid
Notched eyelid

[ more ]

0000625
Femoral bowing
Bowed thighbone
0002980
Frontal bossing
0002007
Glaucoma
0000501
High forehead
0000348
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Hyperconvex nail
Increased nail curvature
Nail overcurvature

[ more ]

0001795
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Large for gestational age
Birth weight > 90th percentile
Birthweight > 90th percentile

[ more ]

0001520
Large hands
large hand
0001176
Long foot
Disproportionately large feet
large feet
long feet

[ more ]

0001833
Long philtrum
0000343
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Overgrowth
General overgrowth
0001548
Seizure
0001250
Short neck
Decreased length of neck
0000470
Short stature
Decreased body height
Small stature

[ more ]

0004322
Short sternum
0000879
Smooth philtrum
0000319
Sound sensitivity
0025112
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Taurodontia
0000679
Thick lower lip vermilion
Increased volume of lower lip
Plump lower lip
Prominent lower lip

[ more ]

0000179
Thick upper lip vermilion
Full upper lip
Increased volume of upper lip
Plump upper lip
Prominent upper lip
Thick upper lip

[ more ]

0000215
Underfolded helix
0008577
Wide nasal base
Broad base of nose
Broad nasal base
Increased width of base of nose
Increased width of nasal base
Wide base of nose

[ more ]

0012810
5%-29% of people have these symptoms
Autism
0000717
Blindness
0000618
Congenital pseudoarthrosis of the clavicle
0006585
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

0002750
Retinal coloboma
Hole in the back of the eye
0000480
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge

[ more ]

0000431

Diagnosis

MOMO syndrome is suspected when a doctor observes signs and symptoms that are consistent with the syndrome. Specifically, the combination of obesity, having a large head (macrocephaly), eye abnormalities, and intellectual disability may make a doctor suspect MOMO syndrome.[1] The doctor may recommend genetic testing to rule out other genetic syndromes with similar features. In some cases, the doctor may recommend a test called whole exome sequencing that analyzes every gene in the body. Unfortunately, because the exact genetic cause of MOMO syndrome is not known, genetic testing may be used to rule out other genetic causes of specific symptoms, but it cannot be used to diagnose a person with MOMO syndrome.

Treatment

Unfortunately, there is no cure for MOMO syndrome. Treatment options are based on the specific symptoms that each person has. Options may include special education in school, therapies to help children meet developmental milestones, and meeting with a nutritionist to discuss methods to help affected individuals maintain a healthy weight. All people who are diagnosed with MOMO syndrome should be evaluated by an ophthalmologist to see if there are any eye abnormalities.[2]

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 Providing General Support

    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.

    In-Depth Information

    • 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 MOMO syndrome. Click on the link to view a sample search on this topic.

      References

      1. Di Donato N. et al. Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: Alternative definition and further delineation of MOMO syndrome. Am J Med Genet A. November 2012; 158A(11):2857-2862. https://www.ncbi.nlm.nih.gov/pubmed/22821547.
      2. Vu PY, Toutain J, Cappellen D, Delrue MA, Daoud H, El Moneim AA, Barat P, Montaubin O, Bonnet F, Dai ZQ, Philippe C, Tran CT, Rooryck C, Arveiler B, Saura R, Briault S, Lacombe D, and Taine L. A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome. American Journal of Medical Genetics Part A. November 2012; 158A(11):2849-2856. https://www.ncbi.nlm.nih.gov/pubmed/23034868.

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