Coffin-Lowry Syndrome (CLS)

This X-linked form of mental retardation is characterized by typical facial features (progressive development of coarse facies with prominent chin and ears and heavy brow; down-slanting palpebral fissures and epicanthal folds, broad nose with thick alae nasi, septum and anteverted nares; large open mouth with full lips, hypodontia and other dental and bite anomalies, narrow high palate). A consistent feature is the large, puffy, soft hands with tapering fingers distally, small fingernails and full forearms. Skeletal anomalies include kyphoscoliosis, lordosis, and pectus carinatum or excavatum. Patients are usually short with delayed bone age; joints are hyperextensible. The cognitive function of affected males is usually severely impaired. Patients are hypotonic and may have “drop attacks”. Sensorineural hearing loss has been described. Complications resulting in early death include spinal stenosis leading to neurologic symptoms, and progressive kyphoscoliosis leading to impaired cardiorespiratory function. Heterozygous females may exhibit mild to severe features of the disorder.

Tests Available

Forms and Documents

Test Info Sheet Test Requisition

Test Details

  • Confirmation of the clinical diagnosis
  • Carrier testing in female relatives

Ordering

550
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs

*Reporting times are typical, but could be extended in situations outside GeneDx's reasonable control.

Billing

81479x1
No
Yes
For price inquiries please email zebras@genedx.com

**The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.

References

  1. Delaunoy et al., (2001) Hum Mutat 17:103-116
  2. Delaunoy et al., (2006) Clin Genet 70:161-166
  3. Zeniou et al., (2002) Am J Hum Genet. 70:1421-1433
  4. Hanauer et al., (2002) J Med Genet. 39: 705-713, 2002