W8MD Diet | COVID-19 portal | Vitamin D | Vaccine | Keto

WikiMD is the world's largest medical encyclopedia with
28,659 pages, 4,106,337 edits & 35,474,331 views.

Free unbiased diet, health and wellness info!

Coffin lowry syndrome

From WikiMD's free health, diet & wellness encyclopedia
Jump to navigation Jump to search

Coffin-Lowry syndrome is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities, delayed intellectual development, short stature, and hypotonia.

Clinical features

Characteristic facial features may include an underdeveloped upper jaw bone (maxillary hypoplasia), a broad nose, protruding nostrils (nares), an abnormally prominent brow, down-slanting eyelid folds (palpebral fissures), widely spaced eyes (hypertelorism), large low-set ears, and unusually thick eyebrows.

Skeletal abnormalities may include abnormal front-to-back and side-to-side curvature of the spine (kyphoscoliosis), unusual prominence of the breastbone (pigeon chest, or pectus carinatum), dental abnormalities, and short, hyperextensible, tapered fingers. Other features may include feeding and respiratory problems, developmental delay, hearing impairment, awkward gait, stimulus-induced drop episodes, and heart and kidney involvement. The disorder affects males and females in equal numbers, but symptoms are usually more severe in males.

The disorder is caused by a defective gene, RSK2, which is found in 1996 on the X chromosome (Xp22.2-p22.1). Thus, the syndrome is typically more severe in males because males have only one X chromosome, while females have two. It is unclear how changes (mutations) in the DNA structure of the gene lead to the clinical findings.

Prognosis

There is no cure and no standard course of treatment for Coffin-Lowry syndrome. Treatment is symptomatic and supportive, and may include physical and speech therapy and educational services.

Treatment

The prognosis for individuals with Coffin-Lowry syndrome varies depending on the severity of symptoms. Early intervention may improve the outlook for patients. Life span is reduced in some individuals with Coffin-Lowry syndrome.


edit 

WikiMD Resources - Coffin lowry syndrome

Latest research (Pubmed)

PubMed


Join WikiMD as a freelancer or paid editor and help improve the page Coffin lowry syndrome or others.
edit 

WikiMD neurology

Neurology
Neurological diseases and disorders

Cerebrovascular diseases‎ | Chronic fatigue syndrome‎ | Congenital disorders of nervous system‎ | ‎Demyelinating diseases of CNS

Epilepsy‎ | Extrapyramidal and movement disorders‎ | Inflammatory diseases of the central nervous system

Motion sickness‎ | Myoneural junction and neuromuscular diseases‎ | Nervous system neoplasia

Sleep disorders‎ | Neurocutaneous conditions‎ | Neurodegenerative disorders‎ | Neurodevelopmental disorders

External links

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

Coffin lowry syndrome is part of WikiMD's Physician reviewed^ articles available 4free, 4all, 4ever!
Medicine: Health - Encyclopedia‏‎‏‎ - Topics‏‎ -‏‎ Diseases‏‎ - Cancer - Rare diseases - Random Page Navigation: Drugs - Wellness - Obesity‏‎ - Diet - Ketogenic diet - W8MD weight loss diet - Editors: Recently Edited Pages - Alphabetical Order - Sponsors - USMLE The content on or accessible through WikiMD is for informational purposes only. WikiMD is not a substitute for professional medical advice. ^See full Disclaimers
W8MD weight loss logo

Ad. Tired of being overweight?. W8MD's physician weight loss program can HELP*
Special: W8MD's tele-weight loss consultations only $99.99. Call 718-946-5500. Limited acceptance.