heart defects-limb shortening syndrome
Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male sibs from Kuwaiti first-cousins. The clinical and radiological features of these patients were reported as a distinct cardioskeletal syndrome.
MONDO:0005453
congenital heart disease
is_a
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0100547
cardiogenetic disease
is_a
heart defect and limb shortening syndrome
exact
heart defects and limb shortening
related