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Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome(SAVA)

MedGen UID:
816673
Concept ID:
C3810343
Disease or Syndrome
Synonym: Sacral agenesis with vertebral anomalies
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): TBXT (6q27)
 
Monarch Initiative: MONDO:0014314
OMIM®: 615709
Orphanet: ORPHA397927

Definition

Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome is a rare, genetic, neural tube defect malformation syndrome characterized by sacral agenesis and abnormal vertebral body ossification with normal vertebral arches associated with notochord canal persistence on ultrasonography. Additional findings include bilateral clubfoot, oligohydramnios, single umbilical artery and, in some, increased nuchal translucency. [from ORDO]

Clinical features

From HPO
Unilateral renal agenesis
MedGen UID:
75607
Concept ID:
C0266294
Congenital Abnormality
A unilateral form of agenesis of the kidney.
Imperforate anus
MedGen UID:
1997
Concept ID:
C0003466
Congenital Abnormality
Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
Persistent cloaca
MedGen UID:
472998
Concept ID:
C0266225
Congenital Abnormality
Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel.
Absence of the sacrum
MedGen UID:
83373
Concept ID:
C0344490
Congenital Abnormality
Absence (aplasia) of the sacrum.
Abnormal vertebral morphology
MedGen UID:
371742
Concept ID:
C1834129
Anatomical Abnormality
An abnormality of one or more of the vertebrae.
Vertebral clefting
MedGen UID:
344586
Concept ID:
C1855828
Finding
Schisis (cleft or cleavage) of vertebral bodies.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
Follow this link to review classifications for Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome in Orphanet.

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