Syndromes You Should Know

Quick Pearls for High-Yield Genetic Syndromes in the ED

Beckwith-Wiedemann syndrome: neonatal hypoglycemia; macrosomia; difficult airway

Marfan syndrome: aortic dissection; pneumothorax; lens dislocation – may not be phenotypically obvious

Treacher-Collins syndrome: micrognathia – a truly difficult airway — a backup setup and possibly OR induction

Achrondroplasia: babies may look floppy when they are not; restrictive lung disease; careful when critically ill – may decompensate quickly, and vascular access can be difficult

Sturge-Weber syndrome: port wine stain, vascular anomalies in any organ system

Osteogenesis imperfecta: look for the fracture you missed

DiGeorge syndrome: a spectrum of thymic underdevelopment; immunocompromise; possibly hypocalcemia causing seizures

Kartagener Syndrome: situs inversus totalis; cilia dyskinesia – careful with inner ear, sinus, respiratory infections

Trisomy 21: atlantoaxial instability – maybe even slow-onset neuro findings; careful with trauma; risk for leukemia and diabetes mellitus

Spina bifida: shunt problems; UTIs. Spina bifida occulta: no symptoms, no problem – watch for tethered cord

Beckwith-Wiedemann Syndrome

Marfan Syndrome

Arachnodactyly (a) positive thumb sign: entire thumbnail protrudes beyond ulnar border of hand. (b) Positive wrist sign: thumb and fifth finger overlap when encircling the wrist. Dean et al.

Diagram of the aortic root as seen at echocardiography. The aortic diameter should be measured at the aortic annulus (1), the sinuses of Valsalva (2), the supra-aortic ridge (3), and the proximal ascending aorta (4). In Marfan syndrome, dilatation usually starts at the sinuses of Valsalva, so this measurement is critical in monitoring the early evolution of the condition. Diameters must be related to normal values for age and body surface area. LV, left ventricle; LA, left atrium; Ao, aorta. Dean et al.

Treacher-Collins Syndrome

Treacher-Collins phenotypes. Micrognathia. Vincent et al.

Achondroplasia

Sturge-Weber Syndrome

Osteogenesis Imperfecta

A 3-year-old boy who presents with blue sclerae and a history of tibial fracture following a minor trauma (jump from a height of less than 18 inches). Has a long-standing complaint of back pain. Mother remarks that the boy bruises easily. Medical history otherwise unremarkable. Leung et al.

DiGeorge Syndrome / 22q Deletion Spectrum

Facial Appearance of Patients with 22q11.2 Distal Deletions. Ben-Shachar et al.

Kartagener Syndrome / Primary Ciliary Dyskinesia

Pavlyshyn, H., Slyva, V., Sarapuk, I., & Korytskyy, G. (2018). A case of Kartagener syndrome in the newborn.

Down Syndrome

Spina Bifida Occulta

Selected References

Cielo CM, Duffy KA, Vyas A, Taylor JA, Kalish JM. Obstructive sleep apnoea and the role of tongue reduction surgery in children with Beckwith-Wiedemann syndrome. Paediatr Respir Rev. 2018 Jan;25:58-63. doi: 10.1016/j.prrv.2017.02.003. Epub 2017 Feb 24. PMID: 28366681; PMCID: PMC5890299.

Chung MT, Levi B, Hyun JS, et al. Pierre Robin sequence and Treacher Collins hypoplastic mandible comparison using three-dimensional morphometric analysis. J Craniofac Surg. 2012;23(7 Suppl 1):1959-1963. doi:10.1097/SCS.0b013e318258bcf1

Comi A. Current Therapeutic Options in Sturge-Weber Syndrome. Semin Pediatr Neurol. 2015;22(4):295-301. doi:10.1016/j.spen.2015.10.005

Dean JC. Marfan syndrome: clinical diagnosis and management. Eur J Hum Genet. 2007 Jul;15(7):724-33. doi: 10.1038/sj.ejhg.5201851. Epub 2007 May 9. PMID: 17487218.

Dvorak DM, Rusnak RA, Morcos JJ. Multiple trauma in the achondroplastic dwarf: an emergency medicine physician perspective case report and literature review. Am J Emerg Med. 1993 Jul;11(4):390-5. doi: 10.1016/0735-6757(93)90174-a. PMID: 8216523.

Huecker M, Harris Z, Yazel E. Occult Spinal Cord Injury after Blunt Force Trauma in a Patient with Achondroplasia: A Case Report and Review of Trauma Management Strategy. J Emerg Med. 2017 Oct;53(4):558-562. doi: 10.1016/j.jemermed.2017.04.037. PMID: 29079071.

Kato RM, Moura PP, Zechi-Ceide RM, Tonello C, Peixoto AP, Garib D. Comparison Between Treacher Collins Syndrome and Pierre Robin Sequence: A Cephalometric Study. Cleft Palate Craniofac J. 2021 Jan;58(1):78-83. doi: 10.1177/1055665620937499. Epub 2020 Jul 2. PMID: 32613853.

Leung AKC et al. Osteogenesis Imperfecta in a 3-Year-Old Boy. Consultant for Pediatricians, Consultant for Pediatricians. 2005. Vol 4 No 7, Volume 4, Issue 7

Ornitz, D. M., & Legeai-Mallet, L. (2017). Achondroplasia: Development, pathogenesis, and therapy. Developmental dynamics : an official publication of the American Association of Anatomists, 246(4), 291–309. https://doi.org/10.1002/dvdy.24479

Pauli, R.M. Achondroplasia: a comprehensive clinical review. Orphanet J Rare Dis 14, 1 (2019). https://doi.org/10.1186/s13023-018-0972-6

Vincent M et al. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genet Med. 2016 Jan;18(1):49-56. doi: 10.1038/gim.2015.29. Epub 2015 Mar 19. Erratum in: Genet Med. 2015 Aug;17(8):686. Szaskon, Kateline [corrected to Szakszon, Kateline]. PMID: 25790162.