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Disease Profile
Lujan 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.
Unknown
Age of onset
Infancy
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.
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)
Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size and distinct craniofacial anomalies
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Lujan
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 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | ||
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ] |
0000256 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | ||
Muscular |
Low or weak muscle tone
|
0001252 | |
Nasal speech |
Nasal voice
|
0001611 | |
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ] |
0002167 | |
0002650 | |||
30%-79% of people have these symptoms | |||
Aplasia/Hypoplasia of the |
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 | |
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 | ||
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 |
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 | |
0000717 | |||
Broad thumb |
Broad thumbs
Wide/broad thumb
[ more ] |
0011304 | |
Deep philtrum | 0002002 | ||
Emotional lability |
Emotional instability
|
0000712 | |
Flexion |
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
Related 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. 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 Neurology News |