Sacral defect with anterior meningocele

Preferred Label : Sacral defect with anterior meningocele;

CISMeF acronym : SDAM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SDAM;

Included titles and symbols : Caudal dysgenesis syndrome; Caudal regression syndrome; Sacral agenesis; Sirenomelia;

Description : Sacral defect with anterior meningocele (SDAM) is a form of caudal dysgenesis. It is present at birth and becomes symptomatic later in life, usually because of obstructive labor in females, chronic constipation, or meningitis. Inheritance is autosomal dominant (Chatkupt et al., 1994). Welch and Aterman (1984) gave a population frequency of 0.14%. Caudal dysgenesis syndrome and caudal regression syndrome are broad terms that refer to a heterogeneous constellation of congenital caudal anomalies affecting the caudal spine and spinal cord, the hindgut, the urogenital system, and the lower limbs. Approximately 15 to 25% of mothers of children with caudal dysgenesis have insulin-dependent diabetes mellitus (222100) (Lynch et al., 2000). See also Currarino syndrome (176450), a similar disorder caused by mutation in the HLXB9 gene (142994) on chromosome 7q36. Currarino syndrome classically comprises the triad of hemisacrum, anorectal malformation, and presacral mass. However, Currarino syndrome also shows phenotypic variability: Lynch et al. (2000) stated that there is variable expressivity of clinical features and that some patients with Currarino syndrome are asymptomatic. Kochling et al. (2001) found the complete triad of Currarino syndrome in only 8 of 23 patients with mutations in the HLXB9 gene, These reports suggest that some patients previously reported as having forms of sacral agenesis, including SDAM, may have had Currarino syndrome and vice versa. See also spina bifida (182940), which can be seen in some patients with sacral agenesis or caudal regression syndrome and may be etiologically related.;

Inheritance : Autosomal dominant;

Prefixed ID : #600145;

Details

Origin ID

600145;

UMLS CUI

C1838568;

Automatic exact mappings (from CISMeF team)
- Absence of the sacrum [HPO term]
- Caudal dysplasia sequence (disorder) [SNOMED CT concept]
- Caudal regression sequence [ICD-11 More detail]
- Caudal regression syndrome [MedDRA Preferred Term]
- Caudal regression syndrome [ORDO Disease]
- Familial caudal dysgenesis [ORDO Disease]
- Sacral Agenesis [NCIt concept]
- Sacral agenesis [MeSH concept]
- Sacral agenesis [MedDRA LLT]
- Sacral agenesis (disorder) [SNOMED CT concept]
- Sirenomelia [NCIt concept]
- Sirenomelia [ICD-11 Sub-sub category]
- Sirenomelia [MedDRA Preferred Term]
- Sirenomelia [HPO term]
- Sirenomelia [ORDO Disease]
- caudal dysgenesis syndrome [MeSH concept]
- caudal regression syndrome [DO Concept]
- ectromelia [MeSH Descriptor]
- sirenomelia [MeSH concept]
Currated CISMeF NLP mapping
- sacral defect and anterior sacral meningocele [MeSH concept]
- sacral defect and anterior sacral meningocele [MeSH Supplementary Concept]
Genes related to phenotype
- Vangl planar cell polarity protein 1 [OMIM gene]
HPO term(s)
- Absence of the sacrum [HPO term]
- Anterior sacral meningocele [HPO term]
- Autosomal dominant inheritance [HPO term]
- Back pain [HPO term]
- Constipation [HPO term]
- Dermoid cyst [HPO term]
- Headache [HPO term]
- Hemisacrum [HPO term]
- Meningitis [HPO term]
- Meningocele [HPO term]
- Neurogenic bladder [HPO term]
- Rectal abscess [HPO term]
- Sacral lipoma [HPO term]
- Urinary retention [HPO term]
Narrower ORDO disease(s)
- Familial caudal dysgenesis [ORDO Disease]
ORDO concept(s)
- Caudal regression syndrome [ORDO Disease]
- Sirenomelia [ORDO Disease]
Related ORDO disease(s)
- Currarino syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- sacral defect and anterior sacral meningocele [MeSH Supplementary Concept]
- sacral defect and anterior sacral meningocele [MeSH concept]

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