Table 4.

Comparison of Muenke Syndrome with Other FGFR-Related Craniosynostosis Syndromes and Saethre-Chotzen Syndrome

GeneSyndromeFeatures of Syndrome
Overlapping w/Muenke SyndromeDistinguishing from Muenke Syndrome
FGFR1
FGFR2
FGFR3 		Pfeiffer syndrome 1
  • Bilateral coronal synostosis
  • Midface retrusion
  • Widely spaced eyes
  • Downslanted palpebral fissures
  • Strabismus
  • Highly arched palate
  • Brachydactyly
  • Normal intellect
  • Broad thumbs & great toes
  • Variable brachydactyly
  • Ocular proptosis
  • Medial deviation of thumbs & great toes
  • Lateral deviation of thumbs & great toes away from other digits
  • Malformed & fused phalanges
  • Symphalangism
  • Mandibular prognathism
FGFR2 Apert syndrome
  • Bilateral coronal synostosis
  • Broad thumbs & great toes
  • Widely spaced eyes
  • Downslanted palpebral fissures
  • Strabismus
  • Highly arched palate
  • Hearing loss
  • Ocular proptosis
  • Disproportionately severe midface retrusion
  • Severe, symmetric soft tissue / bony syndactyly of fingers & toes
  • Lateral deviation of thumbs & great toes
  • Acneiform eruptions
Beare-Stevenson cutis gyrate 1
  • Bilateral coronal synostosis
  • Normal extremities
  • Furrowed palms & soles
  • Widespread cutis gyrata & acanthosis nigricans
  • Prominent umbilicus
  • Moderate intellectual disability
Crouzon syndrome 1
  • Bilateral coronal synostosis
  • Normal extremities
  • Normal intellect
  • Strabismus
  • Widely spaced eyes
  • Hearing deficit (conductive vs sensorineural in Muenke syndrome)
  • Significant proptosis
  • Mandibular prognathism
  • Convex nasal ridge
  • Malar flattening
  • Progressive hydrocephalus
Jackson-Weiss syndrome 1, 2
  • Bilateral coronal synostosis
  • Midface retrusion
  • Tarsal fusions
  • Broad great toes
  • Metatarsal fusions
  • Abnormal tarsal bones
  • Medial deviation of great toes
TWIST1 Saethre-Chotzen syndrome
  • Uni- or bilateral coronal synostosis
  • Brachycephaly
  • Facial asymmetry
  • Midface retrusion
  • Normal intellect or mild-to-moderate developmental delay
  • Ptosis
  • Widely spaced eyes
  • Strabismus
  • Downslanted palpebral fissures
  • High-arched palate
  • Brachydactyly
  • Small ear pinna w/prominent crus
  • Syndactyly of fingers 2-3
  • Low anterior hairline
  • Duplication of the distal phalanx of the hallux
1.
2.

Jackson-Weiss syndrome is most likely limited to members of the original pedigree.

From: Muenke Syndrome

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