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Hernia, anterior diaphragmatic(DIH5)

MedGen UID:
334881
Concept ID:
C1844025
Congenital Abnormality
Synonym: DIH5
 
Gene (location): PLS3 (Xq23)
 
Monarch Initiative: MONDO:0010606
OMIM®: 306950

Definition

Diaphragmatic hernia-5 (DIH5) is an X-linked disorder characterized by congenital diaphragmatic hernia (CDH), diaphragmatic agenesis, and abdominal wall defects. The disorder is usually transmitted in an X-linked recessive pattern with males being severely affected; many die in early childhood. Although the diaphragmatic features are variable, posterolateral diaphragmatic defects are common. Additional features include hypertelorism, sometimes with more severe dysmorphic facial features, and some affected males may show genitourinary, cardiac, pulmonary, or neurodevelopmental abnormalities. Most carrier females show hypertelorism, although a few have mild abdominal wall defects. Some of the features of DIH5 overlap with those of the X-linked disorder thoracoabdominal syndrome (THAS; 313850) (Petit et al., 2023). For a discussion of genetic heterogeneity of congenital diaphragmatic hernia (CDH), see DIH1 (142340). [from OMIM]

Clinical features

From HPO
Congenital diaphragmatic hernia
MedGen UID:
68625
Concept ID:
C0235833
Congenital Abnormality
The presence of a hernia of the diaphragm present at birth.

Recent clinical studies

Etiology

Zugayar D, Berkovits R, Tenenbaum A, Erez E, Arbell D, Koplewitz BZ
Eur J Pediatr 2023 Oct;182(10):4529-4535. Epub 2023 Jul 28 doi: 10.1007/s00431-023-05127-5. PMID: 37507598

Diagnosis

Zugayar D, Berkovits R, Tenenbaum A, Erez E, Arbell D, Koplewitz BZ
Eur J Pediatr 2023 Oct;182(10):4529-4535. Epub 2023 Jul 28 doi: 10.1007/s00431-023-05127-5. PMID: 37507598
Chen PC, Swanson JC, Masand P, Rodriguez JR, Mery CM
World J Pediatr Congenit Heart Surg 2020 Jul;11(4):NP80-NP82. Epub 2017 Sep 21 doi: 10.1177/2150135117710927. PMID: 28933239

Therapy

Zugayar D, Berkovits R, Tenenbaum A, Erez E, Arbell D, Koplewitz BZ
Eur J Pediatr 2023 Oct;182(10):4529-4535. Epub 2023 Jul 28 doi: 10.1007/s00431-023-05127-5. PMID: 37507598

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