Coffin Lowry Syndrome
Coffin Lowry syndrome is a rare genetic disorder characterized by
- mental retardation;
- abnormalities of the head and facial (craniofacial) area;
- large, soft hands with short, thin (tapered) fingers;
- short stature and/or
- various skeletal abnormalities.
Characteristic facial features may include an underdeveloped upper jawbone (maxillary hypoplasia), an abnormally prominent brow, downslanting eyelid folds (palpebral fissures), widely spaced eyes (hypertelorism), large ears, and/or unusually thick eyebrows. Skeletal abnormalities may include abnormal front-to-back and side-to-side curvature of the spine (kyphoscoliosis) and unusual prominence of the breastbone (sternum) (pectus carinatum).
Coffin-Lowry syndrome is caused by mutations in the RPS6KA3 gene and is inherited as an X-linked dominant genetic trait. Males are usually more severely affected than females.
Last modified20 October 2020
# 303600 COFFIN-LOWRY SYNDROME; CLS
ORPHA:192 Coffin-Lowry syndrome
General Medical Guideline
Care management for individuals with Coffin-Lowry syndrome is symptomatic, supportive and based is what is known of Coffin-Lowry syndrome.
Premature loss of primary incisors without preceding root resorption. It has been described that primary incisor showed hypoplastic root cementum in the individual with Coffin...
The Coffin-Lowry gene (RPS6KA3) is located on the X chromosome (Xp22.2). Girls may express symptoms of CLS. Most of the persons with CLS are the...
Developmental disability in Coffin Lowry syndrome is usually apparent at age 1-2years