rapadilino syndrome
RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0018234
dysostosis
is_a
MONDO:0019054
congenital limb malformation
is_a
MONDO:0019713
non-syndromic limb reduction defect
is_a
absent thumbs, dislocated joints, long face with narrow palpebral fissures, long slender nose, arched palate
related
radial and patellar aplasia
related
radial and patellar hypoplasia
related
rapadilino syndrome
exact
SPAC6B12.11 SPAC23A1.19c