campomelic dysplasia
Campomelic dysplasia is a very rare disorder characterized by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).
MONDO:0020040
46 XY differences of sex development
excluded_subClassOf
MONDO:0005151
endocrine system disorder
is_a
MONDO:0005516
osteochondrodysplasia
is_a
MONDO:0015160
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a
MONDO:0019698
bent bone dysplasia
is_a
CMD
exact
CMPD1
related
Campomelic Syndrome
exact
acampomelic campomelic dysplasia
narrow
campomelic dwarfism
exact
campomelic dysplasia
exact