Rare Hematology News

Disease Profile

Lujan 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

Infancy

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ICD-10

Q87.8

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)

Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and poor muscle tone (hypotonia). Affected people also tend to have characteristic physical features such as a tall and thin body; a large head (macrocephaly); and a thin face with distinctive facial features (prominent top of the nose, short space between the nose and the upper lip, narrow roof of the mouth, crowded teeth and a small chin). Most of the cases occur in males. Lujan syndrome is caused by changes (mutations) in the MED12 gene and is inherited in an X-linked manner. Treatment is based on the signs and symptoms present in each person and may include special education; physical therapy, occupational therapy, and speech therapy for developmental delays; and medications to control seizures.[1][2]

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
Disproportionate tall stature
0001519
High forehead
0000348
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Macrocephaly
Increased size of skull
Large head
Large head circumference

[ more ]

0000256
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Muscular hypotonia
Low or weak muscle tone
0001252
Nasal speech
Nasal voice
0001611
Neurological speech impairment
Speech disorder
Speech impairment
Speech impediment

[ more ]

0002167
Scoliosis
0002650
30%-79% of people have these symptoms
Aplasia/Hypoplasia of the corpus callosum
0007370
Arachnodactyly
Long slender fingers
Spider fingers

[ more ]

0001166
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
Attention deficit hyperactivity disorder
Attention deficit
Attention deficit disorder
Attention deficit-hyperactivity disorder
Attention deficits
Childhood attention deficit/hyperactivity disorder

[ more ]

0007018
Hypoplasia of the maxilla
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion

[ more ]

0000327
Joint hyperflexibility
Joints move beyond expected range of motion
0005692
Macroorchidism
Large testis
0000053
Narrow face
Decreased breadth of face
Decreased width of face

[ more ]

0000275
Pectus excavatum
Funnel chest
0000767
Prominent nasal bridge
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge

[ more ]

0000426
Short philtrum
0000322
5%-29% of people have these symptoms
Brachycephaly
Short and broad skull
0000248
Brachydactyly
Short fingers or toes
0001156
Camptodactyly of finger
Permanent flexion of the finger
0100490
Dental crowding
Crowded teeth
Dental overcrowding
Overcrowding of teeth

[ more ]

0000678
Hallucinations
Hallucination
Sensory hallucination

[ more ]

0000738
Low-set ears
Low set ears
Lowset ears

[ more ]

0000369
Protruding ear
Prominent ear
Prominent ears

[ more ]

0000411
Psychosis
0000709
Schizophrenia
0100753
Seizure
0001250
Percent of people who have these symptoms is not available through HPO
Abnormal rib cage morphology
Abnormality of the rib cage
0001547
Abnormality of the genitourinary system
0000119
Abnormally folded helix
0008544
Agenesis of corpus callosum
0001274
Aggressive behavior
Aggression
Aggressive behaviour
Aggressiveness

[ more ]

0000718
Ascending tubular aorta aneurysm
Bulging of wall of large artery located above heart
0004970
Autism
0000717
Broad thumb
Broad thumbs
Wide/broad thumb

[ more ]

0011304
Deep philtrum
0002002
Emotional lability
Emotional instability
0000712
Flexion contracture
Flexed joint that cannot be straightened
0001371
Frontal bossing
0002007
Generalized hypotonia
Decreased muscle tone
Low muscle tone

[ more ]

0001290
Hyperactivity
More active than typical
0000752
Impaired social interactions
Impaired social interaction
Poor social interactions

[ more ]

0000735
Joint laxity
Joint instability
Lax joints
Loose-jointedness
Loosejointedness

[ more ]

0001388
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face

[ more ]

0000276
Long nose
Elongated nose
Increased height of nose
Increased length of nose
Increased nasal height
Increased nasal length
Nasal elongation

[ more ]

0003189
Low frustration tolerance
0000744
Narrow nasal bridge
Narrow bridge of nose
Nasal Bridge, Narrow
Nasal bridge, thin

[ more ]

0000446
Obsessive-compulsive behavior
Obsessive compulsive behavior
0000722
Open mouth
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance

[ 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.

Where to Start

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

References

  1. Lyons MJ. MED12-Related Disorders. GeneReviews. June 6, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1676/. Accessed 10/15/2015.
  2. Lujan syndrome. Genetics Home Reference. December, 2012; https://ghr.nlm.nih.gov/condition/lujan-syndrome. Accessed 10/15/2015.

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