Lymphedema-posterior choanal atresia syndrome

Definition

A rare genetic disease characterized by choanal atresia and early onset of lymphedema of the lower extremities. Additional reported features include facial dysmorphism (hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, and high-arched palate), hypoplastic nipples, and pectus excavatum.

Disease data

Classification

Malformation syndrome

ORPHA code

99141

OMIM code

613611

ICD10 code

Q82.0

ICD11 code

*Soruce