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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). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	TBXT (6q27)

Monarch Initiative:	MONDO:0014314
OMIM®:	615709
Orphanet:	ORPHA397927

Definition

Sacral agenesis with vertebral anomalies (SAVA) is an autosomal recessive syndrome comprising sacral agenesis, abnormal ossification of the vertebral bodies, and a persistent notochordal canal spanning the complete vertebral column (Postma et al., 2014). [from OMIM]

Clinical features

From HPO

Unilateral renal agenesis

MedGen UID:: 75607
•Concept ID:: C0266294
•: Congenital Abnormality

A unilateral form of agenesis of the kidney.

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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.

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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.

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Absence of the sacrum

MedGen UID:: 83373
•Concept ID:: C0344490
•: Congenital Abnormality

Absence (aplasia) of the sacrum.

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Abnormal vertebral morphology

MedGen UID:: 371742
•Concept ID:: C1834129
•: Anatomical Abnormality

An abnormality of one or more of the vertebrae.

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Vertebral clefting

MedGen UID:: 344586
•Concept ID:: C1855828
•: Finding

Schisis (cleft or cleavage) of vertebral bodies.

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Abnormality of the digestive system
- Imperforate anus
- Persistent cloaca
Abnormality of the genitourinary system
- Unilateral renal agenesis
Abnormality of the musculoskeletal system

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome

Malformation of the neurenteric canal, spinal cord and column
- Sacral 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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Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome(SAVA)

Definition

Clinical features

Term Hierarchy

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Genetic Testing Registry

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