Rare Endocrinology News
Disease Profile
Juberg Marsidi 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.
0
Age of onset
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ICD-10
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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)
Intellectual disability, X-linked with Growth Delay, Deafness, Microgenitalism; Juberg-Marsidi Intellectual disability syndrome; JMS;
Categories
Congenital and Genetic Diseases; Kidney and Urinary Diseases; Nervous System Diseases
Summary
Orpha Number: 93972
Symptoms
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 | ||
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 | |
30%-79% of people have these symptoms | ||
Accessory scrotum |
Extra scrotum
|
0030274 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
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 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Exotropia |
Outward facing eye ball
|
0000577 |
Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
Narrow palpebral fissure |
Small opening between the eyelids
|
0045025 |
Sensorineural hearing impairment | 0000407 | |
Decreased body height
Small stature
[ more ] |
0004322 | |
5%-29% of people have these symptoms | ||
Obesity |
Having too much body fat
|
0001513 |
1%-4% of people have these symptoms | ||
0001250 | ||
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of blood and blood-forming |
0001871 | |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Short fingers or toes
|
0001156 | |
Clinodactyly |
Permanent curving of the finger
|
0030084 |
Coarse facial features |
Coarse facial appearance
|
0000280 |
Constipation | 0002019 | |
Decreased testicular size |
Small testes
Small testis
[ more ] |
0008734 |
Dolichocephaly |
Long, narrow head
Tall and narrow skull
[ more ] |
0000268 |
Drooling |
Dribbling
|
0002307 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ] |
0002020 |
Genu valgum |
Knock knees
|
0002857 |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
Hyperactivity |
More active than typical
|
0000752 |
Hyperreflexia |
Increased reflexes
|
0001347 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Decreased activity of gonads
|
0000135 | |
Hypoplastic philtrum | 0005326 | |
Hypospadias | 0000047 | |
Infantile muscular |
Decreased muscle tone in infant
|
0008947 |
Intellectual disability, progressive |
Mental retardation, progressive
Progressive mental retardation
[ more ] |
0006887 |
Kyphoscoliosis | 0002751 | |
Lower limb hypertonia | 0006895 | |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ] |
0000158 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Microtia |
Small ears
Underdeveloped ears
[ more ] |
0008551 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Narrow forehead |
Decreased width of the forehead
|
0000341 |
Open mouth |
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ] |
0000194 |
Optic atrophy | 0000648 | |
Paroxysmal bursts of laughter | 0000749 | |
Pes planus |
Flat feet
Flat foot
[ more ] |
0001763 |
Posteriorly rotated ears |
Ears rotated toward back of head
|
0000358 |
Protruding tongue |
Prominent tongue
Tongue sticking out of mouth
[ more ] |
0010808 |
Drooping upper eyelid
|
0000508 | |
Radial deviation of finger | 0009466 | |
Renal hypoplasia |
Small kidneys
Underdeveloped kidneys
[ more ] |
0000089 |
Scrotal hypoplasia |
Smaller than typical growth of scrotum
|
0000046 |
Short neck |
Decreased length of neck
|
0000470 |
Short upper lip |
Decreased height of upper lip
Decreased vertical length of upper lip
Shortening of upper lip
[ 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. Rare Endocrinology News |