A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type.
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Osebold-Remondini syndrome
MONDO:0007219
acromesomelic dysplasia 2A
MONDO:0008703
acromesomelic dysplasia 2C, Hunter-Thompson type
MONDO:0008717
acromesomelic dysplasia 2B
MONDO:0009231
acromesomelic dysplasia 3
MONDO:0012274
acromesomelic dysplasia, Campailla Martinelli type
MONDO:0021805