Rare Immunology News
Advertisement
Disease Profile
Hall-Riggs 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.
<1 >
Age of onset
Neonatal
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
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Orpha Number: 2107
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 | ||
Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ] |
0001344 |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation
[ more ] |
0010864 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Severe global |
0011344 | |
Decreased body height
Small stature
[ more ] |
0004322 | |
Thick vermilion border |
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips
[ more ] |
0012471 |
Wide nasal bridge |
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] |
0000431 |
30%-79% of people have these symptoms | ||
Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
Short fingers or toes
|
0001156 | |
Coarse hair |
Coarse hair texture
|
0002208 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ] |
0002714 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Limb undergrowth |
limb shortening
Short limb
Short limbs
[ more ] |
0009826 |
Nausea and vomiting | 0002017 | |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ] |
0000448 |
0002650 | ||
0001250 | ||
Slow-growing hair |
Slow growing hair
Slow rate of hair growth
Slow speed of hair growth
[ more ] |
0002217 |
Thick hair |
Increased hair density
|
0100874 |
Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 |
5%-29% of people have these symptoms | ||
Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ] |
0000682 |
Delayed eruption of teeth |
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] |
0000684 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
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 |
Feeding difficulties in infancy | 0008872 | |
Hypoplasia of dental enamel |
Underdeveloped teeth enamel
|
0006297 |
Hypoplasia of the primary teeth |
Decreased size of baby teeth
Decreased size of milk teeth
Small baby teeth
Small milk teeth
Underdevelopment of baby teeth
Underdevelopment of milk teeth
[ more ] |
0006334 |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Irregular vertebral endplates | 0003301 | |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Metaphyseal dysplasia | 0100255 | |
Microdontia of primary teeth |
Decreased width of baby teeth
Decreased width of milk teeth
[ more ] |
0006347 |
0000939 | ||
Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ] |
0000179 |
U-Shaped upper lip vermilion |
Carp-like mouth
Carp-shaped mouth
Fish mouth
Large, carp-shaped mouth
Wide, carp-shaped mouth
[ more ] |
0010806 |
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 Hall-Riggs syndrome. Click on the link to view a sample search on this topic.