Opitz syndrome; Opitz GBBB syndrome, X-linked; Opitz syndrome type 1; hypertelorism-hypospadias syndrome; telecanthus-hypspadius syndrome

Pathology

• Opitz syndrome mutations produce proteins with a decreased affinity for microtubules

Genetics

• X-linked recessive
• associated with defects in MID1

Clinical manifestations

• hypertelorism
• genital-urinary defects
  • hypospadias in males
  • splayed labia in females
• lip-palate-laryngotracheal clefts
• imperforate anus
• developmental delay
• congenital heart defects

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/300000