A rare autosomal recessive disorder characterized by a variety of ophthalmologic and developmental abnormalities. Formerly thought to be synonymous with Bardet-Biedl syndrome, it is now commonly accepted that Laurence-Moon and Bardet-Biedl syndromes are similar but separate entities. Ophthalmologic malfunctions include strabismus, retinitis pigmentosa, and progressive vision loss due to optic atrophy. Developmental abnormalities include intellectual delay, poor growth, and late puberty. Cases may also present with ataxia, spastic paraplegia, peripheral neuropathy, hypogonadism, syndactyly, short stature, and hypopituitarism. Caused by a mutation on gene PNPLA6 and occurs more frequently in the offspring of consanguineous parents.
ICD10CM: Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified