Holzgreve syndrome

Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by 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.



Input patient's signs and symptoms


Narrow down the case reports



Total: 2 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(31.0%)		 3232694
 Holzgreve-Wagner-Rehder syndrome: Potter sequence associated with persistent buccopharyngeal membrane. A second observation.
Legius E, Moerman P, Fryns JP, Vandenberghe K, Eggermont E.
Am J Med Genet. 1988;31(2):269-72.
Intrauterine growth retardation Postaxial polydactyly
Females Homo sapiens Infant, Newborn Mouth Abnormalities Syndrome
2
(4.0%)		 8456859
 Holzgreve syndrome: recurrence in sibs.
Thomas IT, Honore GM, Jewett T, Velvis H, Garber P, Ruiz C.
Am J Med Genet. 1993;45(6):767-9.
Hypoplastic left heart
Cleft Palate Congenital Heart Defects Females Fetus Homo sapiens Infant, Newborn Kidney Male Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 21

HPO ID Term Frequency
HP:0000175 Cleft palate Very frequent (99-80%)
HP:0001161 Hand polydactyly Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0001562 Oligohydramnios Very frequent (99-80%)
HP:0002564 obsolete Malformation of the heart and great vessels Very frequent (99-80%)
HP:0006703 Aplasia/Hypoplasia of the lungs Very frequent (99-80%)
HP:0008678 Renal hypoplasia/aplasia Very frequent (99-80%)
HP:0000262 Turricephaly Frequent (79-30%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0000400 Macrotia Frequent (79-30%)
HP:0000465 Webbed neck Frequent (79-30%)
HP:0000772 Abnormality of the ribs Frequent (79-30%)
HP:0001163 Abnormality of the metacarpal bones Frequent (79-30%)
HP:0001195 Single umbilical artery Frequent (79-30%)
HP:0001387 Joint stiffness Frequent (79-30%)
HP:0002997 Abnormality of the ulna Frequent (79-30%)
HP:0007370 Aplasia/Hypoplasia of the corpus callosum Frequent (79-30%)
HP:0010295 Aplasia/Hypoplasia of the tongue Frequent (79-30%)
HP:0010297 Bifid tongue Frequent (79-30%)
HP:0100016 Abnormality of mesentery morphology Frequent (79-30%)
HP:0100569 Abnormally ossified vertebrae Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID