Disease Index

Isolated aniridia is a congenital bilateral ocular malformation characterized by the complete or partial absence of the iris

Anterior cervical hypertrichosis is a rare form of localised hypertrichosis characterised by hair growth near the laryngeal prominence during childhood

medical condition

human disease

human disease

Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges

human disease

human disease

cleft palate seen as an isolated malformation, distinct from cleft lip with or without cleft palate

Congenital alacrima is characterised by deficient lacrimation (ranging from a complete absence of tears to hyposecretion of tears) that is present from birth

rare human disease

human disease

congenital ectropion that is not part of a larger syndrome

human disease

congenital hypogonadotropic hypogonadism that is not part of a larger syndrome

human disease

human disease

human disease

human disease

craniosynostosis that is not part of a larger syndrome

human disease

human disease

human disease

human disease

diffuse palmoplantar keratoderma that is not part of a larger syndrome

lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age

human disease