Lymphedema-posterior choanal atresia syndrome

Disease Export to PDF
Name:
Lymphedema-posterior choanal atresia syndrome
Description:
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.
ORPHAcode:
99141
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14