Hall-Riggs syndrome

Title

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

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

Orpha Number: 2107

Disease definition

Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit.

Epidemiology

Eight cases have been reported in the literature in two unrelated families.

Clinical description

Dysmorphic features include hypertelorism, depressed nasal bridge, large nose with a large nasal tip, anteverted nostrils and wide mouth with thick lips. Affected patients do not achieve language ability.

Genetic counseling

The condition is probably hereditary, and transmitted as an autosomal recessive trait.

Visit the Orphanet disease page for more resources.

Last updated: 1/9/2010

Symptoms 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.

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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
Intellectual disability, severe	Early and severe mental retardation Mental retardation, severe Severe mental retardation [ more ]	0010864
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Severe global developmental delay		0011344
Short stature	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
Brachydactyly	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
Scoliosis	Abnormal curving of the spine	0002650
Seizures	Seizure	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
Autosomal recessive inheritance		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
Osteoporosis		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

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 3/1/2019

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Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn 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 Hall-Riggs syndrome. Click on the link to view a sample search on this topic.

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