Hall-Riggs syndrome: Difference between revisions
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Created page with "== '''Definition''' == Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe Intellectu..." Tag: visualeditor-wikitext |
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{{Infobox medical condition | |||
| name = Hall-Riggs syndrome | |||
| image = [[File:X-ray_of_the_knees_of_a_9-year-old_boy_with_Hall-Riggs_syndrome.png|250px]] | |||
| caption = X-ray of the knees of a 9-year-old boy with Hall-Riggs syndrome | |||
| synonyms = [[Hall-Riggs dysplasia]] | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Short stature]], [[skeletal dysplasia]], [[joint laxity]] | |||
| onset = [[Childhood]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] | |||
| risks = [[Family history]] | |||
| diagnosis = [[Clinical examination]], [[genetic testing]] | |||
| differential = [[Achondroplasia]], [[hypochondroplasia]] | |||
| treatment = [[Supportive care]], [[physical therapy]] | |||
| prognosis = [[Variable]] | |||
| frequency = [[Rare]] | |||
}} | |||
== '''Definition''' == | == '''Definition''' == | ||
Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe [[Intellectual disability|intellectual deficit]]. | Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe [[Intellectual disability|intellectual deficit]]. | ||
== '''Epidemiology''' == | == '''Epidemiology''' == | ||
Eight cases have been reported in the literature in two unrelated families. | Eight cases have been reported in the literature in two unrelated families. | ||
== '''Inheritance''' == | |||
The condition is probably hereditary, and transmitted as an [[autosomal recessive]] trait. | The condition is probably hereditary, and transmitted as an [[autosomal recessive]] trait. | ||
== '''Signs and symptoms''' == | == '''Signs and symptoms''' == | ||
Dysmorphic features include [[Hypertelorism of orbit|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. | Dysmorphic features include [[Hypertelorism of orbit|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. | ||
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. | For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. | ||
'''80%-99% of people have these symptoms''' | '''80%-99% of people have these symptoms''' | ||
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* Thick vermilion border(Full lips) | * Thick vermilion border(Full lips) | ||
* Wide nasal bridge(Broad nasal bridge) | * Wide nasal bridge(Broad nasal bridge) | ||
'''30%-79% of people have these symptoms''' | '''30%-79% of people have these symptoms''' | ||
* Abnormality of [[epiphysis]] morphology(Abnormal shape of end part of bone) | * Abnormality of [[epiphysis]] morphology(Abnormal shape of end part of bone) | ||
| Line 42: | Line 55: | ||
* Thick hair(Increased hair density) | * Thick hair(Increased hair density) | ||
* Wide mouth(Broad mouth) | * Wide mouth(Broad mouth) | ||
'''5%-29% of people have these symptoms''' | '''5%-29% of people have these symptoms''' | ||
* Abnormality of dental enamel(Abnormal tooth enamel) | * Abnormality of dental enamel(Abnormal tooth enamel) | ||
* Delayed eruption of teeth(Delayed eruption) | * Delayed eruption of teeth(Delayed eruption) | ||
* Joint stiffness(Stiff joint) | * Joint stiffness(Stiff joint) | ||
== '''Diagnosis''' == | == '''Diagnosis''' == | ||
== '''Treatment''' == | == '''Treatment''' == | ||
{{rarediseases}} | {{rarediseases}} | ||
{{stb2}} | {{stb2}} | ||
Revision as of 04:13, 7 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's medical weight loss NYC, sleep center NYC
Philadelphia medical weight loss and Philadelphia sleep clinics
| Hall-Riggs syndrome | |
|---|---|
| File:X-ray of the knees of a 9-year-old boy with Hall-Riggs syndrome.png | |
| Synonyms | Hall-Riggs dysplasia |
| Pronounce | N/A |
| Specialty | Medical genetics |
| Symptoms | Short stature, skeletal dysplasia, joint laxity |
| Complications | N/A |
| Onset | Childhood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | Family history |
| Diagnosis | Clinical examination, genetic testing |
| Differential diagnosis | Achondroplasia, hypochondroplasia |
| Prevention | N/A |
| Treatment | Supportive care, physical therapy |
| Medication | N/A |
| Prognosis | Variable |
| Frequency | Rare |
| Deaths | N/A |
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.
Inheritance
The condition is probably hereditary, and transmitted as an autosomal recessive trait.
Signs and symptoms
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. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Absent speech(Absent speech development)
- Anteverted nares(Nasal tip, upturned)
- Epicanthus(Eye folds)
- Intellectual disability, severe(Early and severe mental retardation)
- Microcephaly(Abnormally small skull)
- Severe global developmental delay
- Short stature(Decreased body height)
- Thick vermilion border(Full lips)
- Wide nasal bridge(Broad nasal bridge)
30%-79% of people have these symptoms
- Abnormality of epiphysis morphology(Abnormal shape of end part of bone)
- Abnormality of the metaphysis(Abnormality of the wide portion of a long bone)
- Brachydactyly(Short fingers or toes)
- Coarse hair(Coarse hair texture)
- Delayed skeletal maturation(Delayed bone maturation)
- Downturned corners of mouth(Downturned corners of the mouth)
- Failure to thrive(Faltering weight)
- Hypertelorism(Wide-set eyes)
- Limb undergrowth(limb shortening)
- Nausea and vomiting
- Platyspondyly(Flattened vertebrae)
- Prominent nose(Big nose)
- Scoliosis
- Seizure
- Slow-growing hair(Slow growing hair)
- Thick hair(Increased hair density)
- Wide mouth(Broad mouth)
5%-29% of people have these symptoms
- Abnormality of dental enamel(Abnormal tooth enamel)
- Delayed eruption of teeth(Delayed eruption)
- Joint stiffness(Stiff joint)
Diagnosis
Treatment
NIH genetic and rare disease info
Hall-Riggs syndrome is a rare disease.
| Rare and genetic diseases | ||||||
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Rare diseases - Hall-Riggs syndrome
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Resources
| Additional resources | ||
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Hall-Riggs syndrome
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