Acrodysotosis, also known as Arkless-Graham syndrome, Maroteaux-Malamut syndrome or acrodysplasia, is a rare genetic disorder affecting bone growth.
On this page:
Epidemiology
The true incidence is not known. There is no known gender predilection. The condition is often detected in early childhood.
Clinical presentation
Skeletal manifestations
small feet and hands with stubby digits
short stature secondary to shortening of long bones
abnormal spine curvature with risk of lumbago or neuropathic pain
Facial features
unusually small nose; flattened nasal bridge
underdeveloped jaw
ocular hypertelorism
low set ears
prominent mandible
Other manifestations
intellectual disability
delayed growth
-
hormonal resistance (whilst the hormone levels are high, the tissues do not fully respond to the hormones)
thyroid stimulating hormone
recurrent otitis media
Pathology
It is caused by sporadic mutations/pathogenic variants of:
PRKAR1A (type 1)
PDE4D (type 2)
It is inherited in an autosomal dominant fashion with most cases occurring sporadically in the family due to new mutation/variation.
Unable to process the form. Check for errors and try again.