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Coffin-Lowry syndrome
Epidemiology:
1) rare
2) affects males & females equally, but males may be more severely affected
Pathology:
1) craniofacial defects
- maxillary hypoplasia
2) skeletal defects
a) kyphoscoliosis
b) pectus carinatum
3) heart & kidney involvement may occur
Genetics:
-> mutation in gene for RSK2
Clinical manifestations:
1) hypotonia
2) short stature
3) mental retardation
4) broad nose
5) protruding nostrils
6) prominent brow
7) downslanting palpebral fissures
8) hypertelorism
9) large ears
10) thick eyebrows
11) short, hyperextensible, tapered fingers
12) hearing impairment
13) awkward gait
14) flat feet
Management:
1) physical therapy
2) speech therapy
Prognosis:
1) no standard treatment
2) no cure
General
genetic syndrome (multisystem disorder)
cephalic malformation
Database Correlations
OMIM 303600
References
- NINDS Coffin Lowry Information Page
https://www.ninds.nih.gov/Disorders/All-Disorders/Coffin-Lowry-Syndrome-Information-Page