Craniosynostosis-fibular aplasia syndrome explained

Craniosynostosis-fibular aplasia syndrome
Synonym:	Craniosynostosis with fibular aplasia Lowry syndrome
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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:

• 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.

Causes

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

Notes and References

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