malformation syndrome
Phocomelia due to thalidomide
medical condition
lamellar ichthyosis
disease
Edinburgh malformation syndrome
human disease
TORCH complex
medical condition
ADULT syndrome
rare human genetic disease
Van den Ende-Gupta syndrome
Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features
Hurler syndrome
genetic disorder that results in the buildup of glycosaminoglycans (AKA GAGs, or mucopolysaccharides) due to a deficiency of alpha-L iduronidase
overgrowth syndrome
genetic disease