Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome- MedGen UID:
- 318972
- •Concept ID:
- C1833835
- •
- Disease or Syndrome
Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by congenital, external, nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud's syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975.
Gaze palsy, familial horizontal, with progressive scoliosis 1- MedGen UID:
- 1647423
- •Concept ID:
- C4551964
- •
- Disease or Syndrome
Familial horizontal gaze palsy with progressive scoliosis-1 (HGPPS1) is an autosomal recessive neurologic disorder characterized by eye movement abnormalities apparent from birth and childhood-onset progressive scoliosis. These features are associated with a developmental malformation of the brainstem including hypoplasia of the pons and cerebellar peduncles and defective decussation of certain neuronal systems. Cognitive function is normal (summary by Bosley et al., 2005).
Genetic Heterogeneity of Familial Horizontal Gaze Palsy with Progressive Scoliosis
See also HGPPS2 (617542), caused by mutation in the DCC gene (120470) on chromosome 18q21.