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Hall-Riggs syndrome
Disease definition
Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit.
ORPHA:2107
Classification level: DisorderSummary
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.
A summary on this disease is available in Deutsch (2010) Español (2010) Français (2010) Italiano (2010) Nederlands (2010) Português (2010)
Additional information
Further information on this disease
Patient-centred resources for this disease
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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.