Medicine:Craniosynostosis-fibular aplasia syndrome
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| Craniosynostosis-fibular aplasia syndrome | |
|---|---|
| Other names | Craniosynostosis 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
- ↑ 1.0 1.1 1.2 1.3 "Craniosynostosis-fibular aplasia syndrome (Concept Id: C1857492)" (in en). https://www.ncbi.nlm.nih.gov/medgen/347468.
- ↑ 2.0 2.1 2.2 "218550 - CRANIOSYNOSTOSIS WITH FIBULAR APLASIA" (in en-us). https://www.omim.org/entry/218550?search=Craniosynostosis%20with%20fibular%20aplasia&highlight=aplasia%20craniosynostosi%20fibular%20with.
- ↑ "Resources: Craniosynostosis-fibular aplasia syndrome". https://rarediseases.oscar.ncsu.edu/disease/craniosynostosis-fibular-aplasia-syndrome/resources/.
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