Acromesomelic dysplasia, Maroteaux type
ORPHA:40· ICD-10 Q77.8
Definition
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 .
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal