Craniosynostosis with severe syndactyly of hands and feet.
- Specialty
- Pediatrics
- Subspecialty
- Pediatrics / Pediatric neurosurgery
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, congenital
- Gene(s) involved
- FGFR2
- Alternative names & eponyms
- Acrocephalosyndactyly type I
Etiology & mechanism
Gain-of-function FGFR2 mutations.
Gene(s) involved (1)
Symptoms & signs (6)
In plain terms, someone with Apert syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
3 shared
Crouzon syndrome
craniosynostosis, midface hypoplasia, proptosis
3 shared
Orofaciodigital syndrome type 1
cleft palate, intellectual disability, syndactyly
3 shared
Pfeiffer syndrome
craniosynostosis, midface hypoplasia, proptosis
2 shared
Loeys–Dietz syndrome
cleft palate, craniosynostosis
2 shared
Potocki–Shaffer syndrome
intellectual disability, syndactyly
2 shared
Shprintzen–Goldberg syndrome
craniosynostosis, intellectual disability
2 shared
Smith–Lemli–Opitz syndrome
cleft palate, intellectual disability
2 shared
Wolf–Hirschhorn syndrome
cleft palate, intellectual disability
1 shared
Allan–Herndon–Dudley syndrome
intellectual disability
1 shared
Aniridia-Wilms tumor-genitourinary anomalies-retardation syndrome
intellectual disability
Shares genes with
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