Lymphedema-posterior choanal atresia syndrome

Orpha code: 99141OMIM code: 613611

Definicja

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
Klasyfikacja

Malformation syndrome

Kod ORPHA
99141
Kod OMIM
613611
Kod ICD10
Q82.0
Kod ICD11
-

No additional description.

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