Hall-Riggs syndrome

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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

Autosomal recessive inheritance, a 25% chance

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

Rare diseases - Hall-Riggs syndrome

A-Z list of rare diseases
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Hall-Riggs syndrome

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