Craniosynostosis-fibular aplasia syndrome
Other namesCraniosynostosis with fibular aplasia
Lowry syndrome

Craniosynostosis-fibular aplasia syndrome (also known as craniosynostosis with fibular aplasia or Lowry syndrome) is a rare syndrome characterized by bicoronal craniosynostosis, absent fibula, cryptorchidism, and bilateral simian creases.[1][2][3]

Signs and symptoms

Features of this condition include:[1]

  • Limbs: fibular aplasia, single transverse palmar crease
  • Genitourinary system: cryptorchidism
  • Musculoskeletal system: craniosynostosis

History

The first (and only) reported cases of this syndrome were two brothers first described in 1972. Both had normal intelligence. A follow-up report was made on one the brothers in 1993 at age 25 with two years of college education.[1][2]

Causes

This condition is genetic but little is known of its cause. Autosomal recessive inheritance has been suggested.[1][2]

References

  1. 1 2 3 4 "Craniosynostosis-fibular aplasia syndrome (Concept Id: C1857492)". www.ncbi.nlm.nih.gov. Retrieved 2023-09-14.
  2. 1 2 3 "218550 - CRANIOSYNOSTOSIS WITH FIBULAR APLASIA". www.omim.org. Retrieved 2023-09-14.
  3. ↑ "Resources: Craniosynostosis-fibular aplasia syndrome". Rare Disease InfoHub. Retrieved September 14, 2023.
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