Duane anomaly-myopathy-scoliosis syndrome
Duane anomaly-myopathy-scoliosis syndrome is characterized by the association of bilateral Duane anomaly type 3, severe scoliosis of early onset, congenital myopathy with hypotonia without muscular weakness, delayed motor development, and short stature. It has been described in one pair of sibs. The Duane type 3 anomaly consists of eye abduction and adduction palsy, globe retraction and narrowing of the palpebral fissure. Muscular biopsy shows aspecific myopathy. Intellectual development is normal. The syndrome is most likely inherited in an autosomal recessive manner. It differs from the Crisfield-Dretakis-Sharpe syndrome, in which short stature and muscular features are absent. Surgery of the scoliosis is necessary. Functional prognosis depends on the severity of the visual handicap.
MONDO:0015368
obsolete neuro-ophthalmological disease (obsolete MONDO:0015368)
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0005381
bone disorder
is_a
MONDO:0006025
autosomal recessive disease
is_a