Disease Information for Coffin-Lowry Syndrome

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Clinical Manifestations
Signs & Symptoms
Hyperextensable Joints Infant
Particular physiognomy/Odd looking kids
Congenital facial deformities
Craniofacial Abnormalities/Congenital
Prominent Eyebrow/Forehead
Sunken Cheek Bones
Hypoplasia Narrow Maxilla
Tongue Protrudes Infant
Delay Sitting Unsupported Infant
Hypotonia
Large hands/feet
Mouth Hangs Open Infant
Muscles Soft/Doughy Infant
Rolling Over Delay Infant
Babkin infant sign/Abnormal
Delayed walking milestone/child
Development Motor Skills (Milestones) Delayed
Galant Infant reflex/Abnormal
Head Neck Floppy Infant Hypotonia Sign
Infant Head Support Delay
Mental Deficiency Child
Moro reflex Poor/Absent Infant
Palmar Grasp infant Reflex Abnormal
Primitive infant reflexes/Abnormal
Rooting infant sign/Abnormal
Swimming infant reflex/Abnormal
Tonic Neck Infant reflex/Abnormal
Shallow Breathing Infant
Large soft hands, short fingers
Short fingers/toes (Brachydactyly)
Short tapered thin fingers
Sternum deformities
Short stature
Short stature Child
Downward sloping eyes/Antimongoloid slant
Thick/Coarse eyebrows
Big ears
Prominent Ears
Typical Clinical Presentation
Males sicker than females/characteristic
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Demographics & Risk Factors
Sex & Age Groups
Population/Boy patient
Population/Child
Population/Infant male
Population/Male
Associated Diseases & Rule outs
Associated Disease & Complications
Facial dysplasia
Hypertelorism/Wide Spaced Eyes
Kyphoscoliosis
Mental retardation
Neonatal Hypotonia/Floppy Baby Syndrome
Pectus carinatum/pigeon chest
Skeletal/bone malformations
Hand anomalies
Disease Mechanism & Classification
Pathophysiology
Pathophysiology/Maternal Chromosome mutation
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)
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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External Links Related to Coffin-Lowry Syndrome
Google
Wikipedia
Merck
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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