U.S. flag

An official website of the United States government


Send to:

Choose Destination

Renal hypodysplasia/aplasia 2(RHDA2)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: RHDA2
Gene (location): FGF20 (8p22)
Monarch Initiative: MONDO:0014319
OMIM®: 615721


Renal hypodysplasia/aplasia belongs to a group of perinatally lethal renal diseases, including bilateral renal aplasia, unilateral renal agenesis with contralateral dysplasia (URA/RD), and severe obstructive uropathy. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT; 610805), and usually results in death in utero or in the perinatal period. Families have been documented in which bilateral renal agenesis or aplasia coexists with unilateral renal aplasia, renal dysplasia, or renal aplasia with renal dysplasia, suggesting that these conditions may belong to a pathogenic continuum or phenotypic spectrum (summary by Joss et al., 2003; Humbert et al., 2014). For a discussion of genetic heterogeneity of renal hypodysplasia/aplasia, see RHDA1 (191830). [from OMIM]

Clinical features

From HPO
Bilateral renal agenesis
MedGen UID:
Concept ID:
Disease or Syndrome
A bilateral form of agenesis of the kidney.
Pulmonary hypoplasia
MedGen UID:
Concept ID:
Congenital Abnormality
A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.
Potter facies
MedGen UID:
Concept ID:
Congenital Abnormality
A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose.
Redundant skin
MedGen UID:
Concept ID:
Pathologic Function
Loose and sagging skin often associated with loss of skin elasticity.
MedGen UID:
Concept ID:
Disease or Syndrome
A complete or near-complete lack of amniotic fluid surrounding a fetus. This finding can be observed sonographically in the third trimesters if the deepest pocket of amniotic fluid is less than or equal to 2 cm.

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...