Duane-radial ray syndrome
A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disk coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.
MONDO:0015368
obsolete neuro-ophthalmological disease (obsolete MONDO:0015368)
excluded_subClassOf
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0002254
syndromic disease
is_a
MONDO:0018234
dysostosis
is_a
MONDO:0019054
congenital limb malformation
is_a
MONDO:0019713
non-syndromic limb reduction defect
is_a
DR syndrome
exact
DRRS
exact
Duane anomaly with radial abnormalities and deafness
related
Duane anomaly with radial ray abnormalities and deafness
exact
Duane-radial ray syndrome
exact
Okihiro syndrome
exact
acro-renal-ocular syndrome
exact