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Holzgreve-Wagner-Rehder syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Complex congenital heart defect, renal agenesis and cleft lip and palate; Holzgreve syndrome
SNOMED CT: Holzgreve Wagner Rehder syndrome (783159001); Cleft palate, Potter sequence, congenital heart anomalies, mesoaxial polydactyly, multiple malformations syndrome (783159001); Holzgreve syndrome (783159001)
Monarch Initiative: MONDO:0009350
OMIM®: 236110
Orphanet: ORPHA2167


An extremely rare lethal multiple congenital anomalies/dysmorphic syndrome with characteristics of renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988. [from SNOMEDCT_US]

Clinical features

From HPO
Renal hypoplasia
MedGen UID:
Concept ID:
Congenital Abnormality
Hypoplasia of the kidney.
Renal agenesis
MedGen UID:
Concept ID:
Congenital Abnormality
Agenesis, that is, failure of the kidney to develop during embryogenesis and development.
Hand polydactyly
MedGen UID:
Concept ID:
Congenital Abnormality
A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
Hypoplastic left heart syndrome
MedGen UID:
Concept ID:
Disease or Syndrome
Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. Individuals with CCHD usually require surgery soon after birth.\n\nAlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). If untreated, CCHD can lead to shock, coma, and death. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment.\n\nSome people with treated CCHD have few related health problems later in life. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.\n\nEach of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Still others involve a combination of these structural abnormalities.\n\nPeople with CCHD have one or more specific heart defects. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus.
Cleft upper lip
MedGen UID:
Concept ID:
Congenital Abnormality
A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Cleft palate
MedGen UID:
Concept ID:
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHolzgreve-Wagner-Rehder syndrome
Follow this link to review classifications for Holzgreve-Wagner-Rehder syndrome in Orphanet.

Recent clinical studies

Clinical prediction guides

Legius E, Moerman P, Fryns JP, Vandenberghe K, Eggermont E
Am J Med Genet 1988 Oct;31(2):269-72. doi: 10.1002/ajmg.1320310203. PMID: 3232694

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