The phenotypic expression of Muenke Syndrome is highly variable and misdiagnosis of affected patients is common. The diagnosis usually requires demonstration of the specific gene mutation.
Inheritance: autosomal dominant with variable penetrance
Chromosome affected: 4p16.3
Gene affected: fibroblast growth factor receptor 3 (FGFR3), with a specific mutation (Pro 250 Arg).
Key clinical findings:
(1) unilateral or bilateral coronal craniosynostosis
(2) fusion of carpal and/or tarsal bones (at the wrist and ankle, respectively)
(2) normal intellect to mild intellectual delay
(3) hearing loss
(4) short fingers and toes (brachydactyly
(5) broad first toe (hallux)
(6) cervical spine anomalies
(7) thimble-like middle phalanges
(8) mild maxillary hypoplasia
(9) palpebral fissures that show lateral downward slanting
(10) ocular hypertelorism
(11) cone-shaped epiphyses
(12) fifth finger clinodactyly
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