phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterized by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families.
MONDO:0003847
hereditary disease
is_a
MONDO:0018234
dysostosis
is_a
MONDO:0019054
congenital limb malformation
is_a
Stoll-LC)vy-Francfort syndrome
exact
Stoll-Lévy-Francfort syndrome
exact
Stoll-levy-Francfort syndrome
related
phocomelia ectrodactyly deafness sinus arrhythmia
related