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Renal hypodysplasia/aplasia 4(RHDA4)

MedGen UID:
1808595
Concept ID:
C5676993
Disease or Syndrome
Synonyms: RENAL HYPODYSPLASIA/APLASIA 4; RHDA4
 
Gene (location): GFRA1 (10q25.3)
 
Monarch Initiative: MONDO:0030822
OMIM®: 619887

Definition

Renal hypodysplasia/aplasia-4 (RHDA4) is characterized by bilateral renal agenesis, with severely reduced to absent amniotic fluid during pregnancy. Patients exhibit the Potter sequence, including flattened nose, ear anomalies, and receding chin, as well as limb contractures and joint dislocations in some patients (Arora et al., 2021; Al-Shamsi et al., 2022). For a general phenotypic description and discussion of genetic heterogeneity of renal hypoplasia/dysplasia, see RHDA1 (191830). [from OMIM]

Clinical features

From HPO
Bilateral renal agenesis
MedGen UID:
296299
Concept ID:
C1609433
Disease or Syndrome
A bilateral form of agenesis of the kidney.
Pulmonary hypoplasia
MedGen UID:
78574
Concept ID:
C0265783
Congenital Abnormality
A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.
Respiratory failure
MedGen UID:
257837
Concept ID:
C1145670
Disease or Syndrome
A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.
Potter facies
MedGen UID:
78614
Concept ID:
C0266619
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.
Anhydramnios
MedGen UID:
676568
Concept ID:
C0730379
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.

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