Caudal regression sequence

Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine.



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Narrow down the case reports



Total: 23 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
7
(4.0%)
2063890
New multiple congenital anomalies syndrome in a stillborn infant of consanguinous parents and a prediabetic pregnancy.
Van Allen MI, Myhre S.
Am J Med Genet. 1991;38(4):523-8.
Obesity
Adult Chromosome Aberrations Females Fetal Death Genes, Recessive Homo sapiens Infant, Newborn Pregnancy Pregnancy in Diabetics
7
(4.0%)
1887851
Alagille syndrome associated with caudal dysplasia sequence.
Rodriguez JI, Rivera T, Palacios J.
Am J Med Genet. 1991;40(1):61-4.
Rectourethral fistula
Homo sapiens Infant Kidney Liver Male Radiography, Thoracic Syndrome
7
(4.0%)
1554011
Vertebral hypersegmentation in a case of the VATER association.
Wulfsberg EA, Phillips-Dawkins TL, Thomas RL.
Am J Med Genet. 1992;42(6):766-70.
Abnormality of the bladder
Adult Females Homo sapiens Infant, Newborn Male Oligohydramnios Pregnancy Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 29

HPO ID Term Frequency
HP:0002607 Bowel incontinence Very frequent (99-80%)
HP:0002644 Abnormality of pelvic girdle bone morphology Very frequent (99-80%)
HP:0003199 Decreased muscle mass Very frequent (99-80%)
HP:0005640 Abnormal vertebral segmentation and fusion Very frequent (99-80%)
HP:0008479 Hypoplastic vertebral bodies Very frequent (99-80%)
HP:0008517 Aplasia/Hypoplasia of the sacrum Very frequent (99-80%)
HP:0009800 Maternal diabetes Very frequent (99-80%)
HP:0011867 Abnormality of the wing of the ilium Very frequent (99-80%)
HP:0100710 Impulsivity Very frequent (99-80%)
HP:0000069 Abnormality of the ureter Frequent (79-30%)
HP:0000073 Ureteral duplication Frequent (79-30%)
HP:0000076 Vesicoureteral reflux Frequent (79-30%)
HP:0000086 Ectopic kidney Frequent (79-30%)
HP:0000104 Renal agenesis Frequent (79-30%)
HP:0001315 Reduced tendon reflexes Frequent (79-30%)
HP:0001387 Joint stiffness Frequent (79-30%)
HP:0001762 Talipes equinovarus Frequent (79-30%)
HP:0002023 Anal atresia Frequent (79-30%)
HP:0002564 obsolete Malformation of the heart and great vessels Frequent (79-30%)
HP:0002650 Scoliosis Frequent (79-30%)
HP:0000028 Cryptorchidism Occasional (29-5%)
HP:0000062 Ambiguous genitalia Occasional (29-5%)
HP:0000083 Renal insufficiency Occasional (29-5%)
HP:0000202 Oral cleft Occasional (29-5%)
HP:0000822 Hypertension Occasional (29-5%)
HP:0000921 Missing ribs Occasional (29-5%)
HP:0002089 Pulmonary hypoplasia Occasional (29-5%)
HP:0002139 Arrhinencephaly Occasional (29-5%)
HP:0002308 Arnold-Chiari malformation Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 7

HPO ID Term # of case reports
HP:0009800 Maternal diabetes 3
HP:0000518 Cataract 1
HP:0000819 Diabetes mellitus 1
HP:0010458 Female pseudohermaphroditism 1
HP:0011604 Aortopulmonary window 1
HP:0011613 Interrupted aortic arch type B 1
HP:0025407 Rectourethral fistula 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
VANGL1 VANGL planar cell polarity protein 1 81839
FUZ fuzzy planar cell polarity protein 80199