GAMUT D-161
RADIAL RAY SYNDROMES (HYPOPLASIA OR APLASIA OF THE RADIUS+ AND/OR THUMB AND LATERAL CARPAL BONES)


COMMON
*1. Brachmann-de Lange S. (de Lange S.)
2. Fanconi anemia (pancytopenia-dysmelia S.)
3. Holt-Oram S. 
*4. Isolated anomaly
*5. Phocomelia (eg, thalidomide embryopathy)
6. TAR S. (thrombocytopenia-absent radius S.)


UNCOMMON
1. Aase S.
2. Aminopterin fetopathy
3. Baller-Gerold S. (craniosynostosis-radial aplasia S.)
4. de la Chapelle dysplasia
5. Diamond-Blackfan S.
6. Duane-radial S. (DR S.)
*7. Dyschondrosteosis  
8. Ectodermal dysplasia
9. Facioauriculoradial dysplasia
10. Fetal varicella S.
*11. Ives-Houston S.
12. IVIC S.
13. Juberg-Hayward S.
14. Klippel-Feil S.
15. Lacrimo-auriculo-dento-digital S. (LADD S. or Levy-Hollister S.)
16. Mesomelic dysplasias
17. Mietens-Weber S.
18. Nager acrofacial dysostosis
19. Poland S. (pectoral muscle aplasia-syndactyly)
*20. Roberts S. (pseudothalidomide S.)
21. Rothmund-Thomson S.
22. Seckel S. (bird-headed dwarfism)
23. Treacher Collins S.
24. Trisomy 18 S.
25. VATER association


* May or must have ulnar hypoplasia or absence as well.

+ Radial hypoplasia may be seen with certain congenital heart diseases; renal anomalies; esophageal, duodenal, or anal atresia; rib anomalies; Klippel-Feil S.; kyphoscoliosis; and hypoplasia or spina bifida of the lumbosacral spine.




References