Rare Pulmonology News

Disease Profile

Juberg Marsidi 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.

Unknown

Age of onset

-

ICD-10

-

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)

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

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 93972

Definition
An X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies).

Epidemiology
Prevalence is unknown but since its initial description in 1980 several unrelated families with affected males have been reported.

Clinical description
The syndrome is characterised by facial dysmorphism (a flat and broad nasal bridge, prominent forehead, upslanting palpebral fissures, hypertelorism and various ear anomalies), growth failure, sensorineural deafness, microgenitalism and severe intellectual deficit.

Etiology
The syndrome is caused by mutations in the ATRX gene (Xq13.3).

Genetic counseling
Inheritance is X-linked recessive.

Visit the Orphanet disease page for more resources.

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
Intellectual disability, severe
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
Short stature
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
Seizure
0001250
Percent of people who have these symptoms is not available through HPO
Abnormality of blood and blood-forming tissues
0001871
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Brachydactyly
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
Hypogonadism
Decreased activity of gonads
0000135
Hypoplastic philtrum
0005326
Hypospadias
0000047
Infantile muscular hypotonia
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
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Micrognathia
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
Ptosis
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

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 Juberg Marsidi syndrome. Click on the link to view a sample search on this topic.

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