Congenital diaphragmatic hernia (CDH) is defined as a protrusion of abdominal viscera into the thorax through an abnormal opening or defect that is present at birth. CDH is often associated with potentially lethal lung hypoplasia and pulmonary hypertension. Despite advances in therapy, mortality remains high. Although the etiology of most cases of CDH remains unknown, there is increasing evidence that specific pathways and genes play a role in the development of CDH. It has been reported that a patient who has nonsense mutation in FOG2/ ZFPM2, died at birth with a diaphragmatic defect and severe pulmonary hypoplasia.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Structural developmental anomalies primarily affecting one body system
Structural developmental anomalies of the diaphragm, abdominal wall or umbilical cord
LB00 Structural developmental anomalies of diaphragm
H01241 Congenital diaphragmatic hernia
Beecroft SJ, Ayala M, McGillivray G, Nanda V, Agolini E, Novelli A, Digilio MC, Dotta A, Carrozzo R, Clayton J, Gaffney L, McLean CA, Ng J, Laing NG, Matteson P, Millonig J, Ravenscroft G
Title
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects.
