Table 1

Phenotypic characteristics of F syndrome

Phenotypeaffected individual
Brachycephaly2/10
Macrocephaly3/10
Facies sign abnormal3/10
Low/abnormal hairline4/10
Dental hypoplasia/dysplasia7/10
Wide alveolar ridge6/10
High, narrow palate7/10
Kyphosis3/10
Spina bifida occulta5/10
Pectus excavatum5/10
Syndactyly involving thumb9/10
Carpal fusion10/10
Broad, bifid 1st toe10/10
Tarsal fusion10/10
Short, acromelic limbs1/10