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References OMIM Gene GeneReviews HGMD HGNC
last update : 25-04-2023
Symbol FND2
Location 11p11.2
Name frontonasal dysplasia 2
Other name(s) frontofacial dysostosis syndrome
Corresponding gene ALX4
Other symbol(s) FFDS
Main clinical features
  • characterized by total alopecia, a large skull defect, coronal craniosynostosis, hypertelorism, severely depressed nasal bridge and ridge, bifid nasal tip, hypogonadism, callosal body agenesis and mental retardation
  • Genetic determination autosomal recessive
    Prevalence two Turkish families
    Function/system disorder other
    Type MCA/MR
    Gene mutationChromosome rearrangementEffectComments
    nonsense     truncating 146 amino acids of the protein including a part of the highly conserved homeodomain and the C-terminal paired tail domain