Disease Profile

Hall-Riggs 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

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

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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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Categories

Congenital and Genetic 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: 2107

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.

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
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
0002650
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

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.