Meier-Gorlin syndrome

Genetics

• defects in CDC6 are the cause of Meier-Gorlin syndrome type 5

Clinical manifestations

• bilateral microtia
• aplasia/hypoplasia of the patellae
• severe intrauterine & postnatal growth retardation with short stature & poor weight gain
• additional clinical findings include
  • anomalies of cranial sutures
  • microcephaly
  • apparently low-set & simple ears
  • microstomia
  • full lips
  • highly arched or cleft palate
  • micrognathia
  • genitourinary tract anomalies,
  • various skeletal anomalies
• almost all cases have primordial dwarfism with substantial prenatal & postnatal growth retardation
• not all cases have microcephaly, & microtia
• absent/hypoplastic patella are absent in some. despite the presence of microcephaly
• intellect is usually normal

More general terms

• genetic syndrome (multisystem disorder)

Additional terms

• nevoid basal cell carcinoma syndrome; basal cell nevus syndrome; Gorlin-Goltz syndrome

Database

• OMIM: https://mirror.omim.org/entry/613805