Chitayat et al described a rare hereditary syndrome associated with a mutation in ERF.

Chromosome: 19q13.2

Gene: ERF (ETS2 repressor factor)


Clinical features:

(1) hyperphalangism

(2) partial syndactyly

(3) facial anomalies

(4) bronchomalacia

(5) hallux valgus

(6) hypospadias in male


Facial anomalies may include:

(1) large anterior fontanelle

(2) box-shaped skull

(3) short forehead

(4) hypoplastic supraorbital ridges

(5) hypertelorism

(6) depressed nasal bridge

(7) short, pointed nose

(8) anteverted nostrils

(9) long philtrum

(10) hypoplastic malar areas

(11) retrognathia

To read more or access our algorithms and calculators, please log in or register.