Costello syndrome
Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0019292
obsolete dermis elastic tissue disorder (obsolete MONDO:0019292)
excluded_subClassOf
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0020297
Noonan syndrome and Noonan-related syndrome
is_a
CSTLO
related
Costello syndrome
exact
FCS syndrome
exact
congenital myopathy with excess of muscle spindles
exact
faciocutaneoskeletal syndrome
exact
SPAC17H9.09c