Rare Endocrinology News
Disease Profile
Marshall-Smith 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
Infancy
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.
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
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Marshall-Smith
MRSHSS is caused by
Symptoms
The breathing difficulties individuals with this condition experience are due to a number of underlying airway issues, which may include upper airway obstruction related to a small and/or underdeveloped jaw, narrowing of the nasal airway (choanal stenosis), and/or an abnormal larynx. Additionally, aspiration pneumonia may be a factor, which is typically secondary to an underdeveloped epiglottis and pharyngeal incoordination. Sleep apnea may also be associated.[4]
Other common signs and symptoms are:[1][2][4]
- A blue tint to the whites of the eyes (blue sclera)
- An abnormal curve in the spine (
scoliosis and kyphosis) - Loss of
tissue in the gums - Heart defects, such as a hole in the heart between the different chambers (septal defects)
- Protrusion of part of the intestines through the umbilical opening in the abdominal muscles (umbilical hernia)
- An abnormal amount of hair growth over the body (hirsutism)
Hearing loss
Individuals with MRSHSS may also have neurological problems, including low muscle tone (
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 | ||
Accelerated skeletal maturation |
Advanced bone age
Early bone maturation
[ more ] |
0005616 |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Bowing of the long bones |
Bowed long bones
Bowing of long bones
[ more ] |
0006487 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Prominent forehead |
Pronounced forehead
Protruding forehead
[ more ] |
0011220 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
Retrognathia |
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] |
0000278 |
Slender long bone |
Long bones slender
Thin long bones
[ more ] |
0003100 |
Thin skin | 0000963 | |
30%-79% of people have these symptoms | ||
Blue sclerae |
Whites of eyes are a bluish-gray color
|
0000592 |
Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ] |
0000978 |
Conductive hearing impairment |
Conductive deafness
Conductive hearing loss
[ more ] |
0000405 |
Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Increased susceptibility to fractures |
Abnormal susceptibility to fractures
Bone fragility
Frequent broken bones
Increased bone fragility
Increased tendency to fractures
[ more ] |
0002659 |
Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ] |
0000194 |
Protruding tongue |
Prominent tongue
Tongue sticking out of mouth
[ more ] |
0010808 |
Reduced bone mineral density |
Low solidness and mass of the bones
|
0004349 |
Scoliosis | 0002650 | |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
5%-29% of people have these symptoms | ||
Abnormality of cardiovascular system morphology | 0030680 | |
Cerebellar hypoplasia |
Small cerebellum
Underdeveloped cerebellum
[ more ] |
0001321 |
Choanal atresia |
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ] |
0000453 |
0001363 | ||
Gingival overgrowth |
Gum enlargement
|
0000212 |
Optic atrophy | 0000648 | |
Ventriculomegaly | 0002119 | |
Percent of people who have these symptoms is not available through HPO | ||
Agenesis of |
0001274 | |
Apnea | 0002104 | |
Atlantoaxial dislocation | 0003414 | |
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
0000006 | ||
Bullet-shaped middle phalanges of the hand | 0009845 | |
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Choanal stenosis |
Narrowing of the rear opening of the nasal cavity
|
0000452 |
Death in childhood | 0003819 | |
Decreased body weight |
Decreased weight
Low body weight
Low weight
Weight less than 3rd percentile
[ more ] |
0004325 |
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 |
Distal widening of metacarpals |
Wide outermost end of long bone
|
0006048 |
Eclabion |
Outward turned lips
|
0012472 |
Frontal bossing | 0002007 | |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Glossoptosis |
Retraction of the tongue
|
0000162 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
0000822 | ||
Related diseasesRelated diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
OrganizationsSupport 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
Learn moreThese 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
In-Depth Information
References
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