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)


Additional findings:

(1) macrocephaly

(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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