The Collin-Lowry Syndrome (CLS) is an X-linked condition that primarily affects males but which also can affect female carriers to a lesser degree.


Chromosome affected: Xp22.2


Gene mutation: RSK2


Inheritance: X-linked, so males are more affected


Clinical features in affected males:

(1) severe mental retardation

(2) short, fleshy hands

(3) hyperextensible, tapering fingers

(4) short stature

(5) microcephaly

(6) dental anomalies

(7) stimulus-induced drop episodes (SIDEs) in which an unexpected stimulus results in collapse without loss of consciousness

(8) kyphoscoliosis and/or vertebral defects

(9) coarse facial features

(9a) downslanting palpebral fissures

(9b) maxillary hypoplasia

(9c) prominent brow

(9d) a short, broad nose

(9e) prominent ears

(9f) open mouth expression

(10) hypotonia

(11) absent speech in males


Clinical features in female carriers:

(1) may be completely normal

(2) may show one or more of the following:

(2a) some degree of mental retardation)

(2b) psychosis

(2c) mild physical changes


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