Disease Information for Coffin-Lowry Syndrome

Synonyms:

CLS, CLS Coffin Lowry syndrome, Coffin Lowry Syndrome, Coffin Lowry syndrome (CLS), Coffin Lowry syndrome (disorder), Coffin Siris Wegienka syndrome, Coffin syndrome 2, soft hands syndrome, Syndrome Coffin Lowry

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CLS, CLS Coffin Lowry syndrome, Coffin Lowry Syndrome, Coffin Lowry syndro... (more)

Definition:

Coffin Lowry Syndrome; Coffin Syndrome; Mental Retardation with Osteocartilaginous Abnormalities;

Coffin-Lowry syndrome is a rare genetic disorder characterized by mental retardation; abnormalities of the head and facial 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 , widely spaced eyes (hypertelorism), large ears, and/or unusually thick eyebrows; Skeletal abnormalities may include kyphoscoliosis and pectus carinatum; Coffin-Lowry syndrome is caused by mutations in the RSK2 gene and is inherited as an X-linked dominant genetic trait; Males are usually more severely affected than females---------[NORD 2005]--------------------------

symptoms of Coffin-Lowry syndrome may vary on an individual basis for each patient;Craniofacial abnormalities;

Underdeveloped upper jaw bone (maxillary hypoplasia);

Abnormally prominent brow; Downslanting eyelid folds (palpebral fissures); Widely spaced eyes (hypertelorism);

Large ears; thick eyebrows; Kyphoscoliosis; pectus carinatum; Short, tapered fingers; Mental retardation;

Short stature;Hypotonia;Feeding problems;Respiratory problems;Developmental delay ;Hearing impairment;Awkward gait;Flat feet;Heart problems;Kidney problems

This is a rare genetic disorder characterized by craniofacial (head and facial) and skeletal abnormalities, mental retardation, short stature, and hypotonia; Characteristic facial features may include an underdeveloped upper jaw bone (maxillary hypoplasia), an abnormally prominent brow, downslanting eyelid folds (palpebral fissures), widely spaced eyes (hypertelorism), large ears, and unusually thick eyebrows;

-----[wrongdiagnosis_com 2005]----

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▼ Demographics & Risk Factors
▼ Clinical Manifestations
▼ Associated Diseases & Rule outs
▼ Disease Mechanism & Classification
▼ External Links Related to Coffin-Lowry Syndrome

Demographics & Risk Factors[next]
- Sex & Age Groups
  - Population/Boy patient
  - Population/Child
  - Population/Infant male
  - Population/Male
Clinical Manifestations[previous][top][next]
- Typical Clinical Presentation
  - Males sicker than females/characteristic
  - Presentation/Multiple deformities newborn (odd look)
- Signs & Symptoms
Associated Diseases & Rule outs[previous][top][next]
- Associated Disease & Complications
Disease Mechanism & Classification[previous][top][next]
- Pathophysiology
  - Pathophysiology/Mutation RSK2 gene
- Process
  - PROCESS/Congenital/developmental (category)
  - PROCESS/Genetic disorder/Spontaneous mutations/sporadic
  - PROCESS/Hereditofamilial (category)
  - PROCESS/X-Linked dominant inheritance (ex)
  - PROCESS/Anomalies/Deformities/Malformations (EX)
  - PROCESS/Dystostosis/craniofacial (ex)
External Links Related to Coffin-Lowry Syndrome[previous][top]

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