Renpenning syndrome 1; Sutherland-Haan X-linked mental retardation syndrome; X-linked mental retardation syndromes MRXS3/MRXS8/MRX55

Epidemiology

• males, little expression in females

Genetics

• X-linked
• associated with defects in PQBP1 gene

Clinical manifestations

• mental retardation
• microcephaly
• short stature
• small testes
• craniofacies tends to be narrow & tall with
  • upslanting palpebral fissures
  • abnormal nasal configuration
  • cupped ears
  • short philtrum
• nose may appear long or bulbous, with overhanging columella
• less consistent manifestations
  • ocular colobomas
  • cardiac malformations
  • cleft palate
  • ana anomalies. RENS1 is more frequently in males than in females where little or no expression is found.

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/309500