Thursday, May 30, 2013


 The following is a list of conditions commonly confused/misdiagnosed for SCS, some of their symptoms, and which mutated gene each contains:
Disease/Condition Symptoms Mutated Gene
SCS Widely-spaced eyes, Low-set hairline, Drooping eyes, Interdigital webbing, Deformed ears, Crossed eyes, and downward sloping palpebral fissures TWIST1
Robinow-Sorauf Syndrome Widely-spaced eyes, Deviated septum, Flat skull posterior, Deformed ears, Crossed eyes, Protruding jaw, and Duplication of distal phalanx TWIST1
Muenke Syndrome Widely-spaced eyes, Enlarged head, Hearing loss, Flat cheeks, and Low-set ears FGFR3
Crouzon Syndrome Widely-spaced eyes, Short-broad head, Hearing loss, Bulging eyes, Beaked nose, Low-set ears, Strabismus, Protruding chin, and Short humerus and femur FGFR2 & FGFR3
Pfeiffer Syndrome Widely-spaced eyes, Underdeveloped jaw, Beaked nose, Hearing loss, and bulging eyes FGFR1 & FGFR2
Apert Syndrome Widely-spaced eyes, Prominent forehead, Flat skull posterior, Bulging eyes, Low-set ears, Flat or concave face, Short thumb, and Webbed fingers FGFR2
Isolated Unilateral Coronal Synostosis Only malformation is the premature fusion of sutures; If left untreated, can lead to facial asymmetry resembling SCS FGFR (any)
Baller-Gerold Syndrome (BGS) Short broad head, Bulging eyes, Flat forehead, Poikiloderma, Radial deformity with reduced number of digits, underdeveloped or missing thumb and radius, and Growth retardation RECQL4

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