Caudal regression sequence

General Information (adopted from Orphanet):

Synonyms, Signs: SDAM CAUDAL DYSGENESIS SYNDROME, INCLUDED
SACRAL AGENESIS, INCLUDED
SIRENOMELIA, INCLUDED
CAUDAL REGRESSION SYNDROME, INCLUDED
Sacral agenesis syndrome
Sacral regression syndrome
Caudal dysplasia
Number of Symptoms 48
OrphanetNr: 3027
OMIM Id: 600145
ICD-10: Q76.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Multifactorial
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Malformation of the neurenteric canal, spinal cord and column
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
Syndromic anorectal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic renal or urinary tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare renal disease
Syndromic urogenital tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare urogenital disease

Symptom Information: Sort by abundance 

1
 (HPO:0002839) Urinary bladder sphincter dysfunction Frequent [Orphanet] 34 / 7739
2
 (HPO:0100542) Abnormal localization of kidney Frequent [Orphanet] 64 / 7739
3
 (HPO:0100515) Pollakisuria 12 / 7739
4
 (HPO:0000011) Neurogenic bladder 11 / 7739
5
 (HPO:0008678) Renal hypoplasia/aplasia Frequent [Orphanet] 127 / 7739
6
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
7
 (HPO:0000072) Hydroureter Frequent [Orphanet] 146 / 7739
8
 (HPO:0000062) Ambiguous genitalia Occasional [Orphanet] 74 / 7739
9
 (HPO:0000083) Renal insufficiency Occasional [Orphanet] 232 / 7739
10
 (HPO:0000076) Vesicoureteral reflux Frequent [Orphanet] 94 / 7739
11
 (HPO:0000202) Oral cleft Occasional [Orphanet] 120 / 7739
12
 (HPO:0001140) Epibulbar dermoid 11 / 7739
13
 (HPO:0002315) Headache 175 / 7739
14
 (HPO:0001315) Reduced tendon reflexes Frequent [Orphanet] 160 / 7739
15
 (HPO:0011442) Abnormality of central motor function Very frequent [Orphanet] 76 / 7739
16
 (HPO:0006946) Recurrent meningitis 6 / 7739
17
 (HPO:0009800) Maternal diabetes Very frequent [Orphanet] 14 / 7739
18
 (HPO:0003422) Vertebral segmentation defect Very frequent [Orphanet] 95 / 7739
19
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
20
 (HPO:0000921) Missing ribs Occasional [Orphanet] 62 / 7739
21
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
22
 (HPO:0007293) Anterior sacral meningocele 4 / 7739
23
 (HPO:0010305) Absence of the sacrum Very frequent [Orphanet] 17 / 7739
24
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
25
 (HPO:0003418) Back pain 17 / 7739
26
 (HPO:0001387) Joint stiffness Frequent [Orphanet] 322 / 7739
27
 (HPO:0009790) Hemisacrum 4 / 7739
28
 (HPO:0002023) Anal atresia Frequent [Orphanet] 135 / 7739
29
 (HPO:0002607) Bowel incontinence Very frequent [Orphanet] 33 / 7739
30
 (HPO:0030680) Abnormality of cardiovascular system morphology Frequent [Orphanet] 355 / 7739
31
 (HPO:0000822) Hypertension Occasional [Orphanet] 224 / 7739
32
 (HPO:0006703) Aplasia/Hypoplasia of the lungs Occasional [Orphanet] 79 / 7739
33
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
34
 (OMIM) Coccyx defects 3 / 7739
35
 (OMIM) Cysts tend to enlarge with age 3 / 7739
36
 (OMIM) 'Scimitar' sign on X-ray 3 / 7739
37
 (OMIM) Sacral agenesis 4 / 7739
38
 (HPO:0011420) Death Occasional [Orphanet] 184 / 7739
39
 (OMIM) Urinary retention due to mass effect of meningocele 3 / 7739
40
 (OMIM) Obstructed labor 3 / 7739
41
 (OMIM) Lipoma, anterior sacral 3 / 7739
42
 (HPO:0012443) Abnormality of brain morphology Occasional [Orphanet] 45 / 7739
43
 (OMIM) Neural tube defects may occur 3 / 7739
44
 (OMIM) Prolonged labor 3 / 7739
45
 (HPO:0002308) Arnold-Chiari malformation Occasional [Orphanet] 42 / 7739
46
 (OMIM) Anterior sacral hemidefect 3 / 7739
47
 (OMIM) Tethered spinal cord 5 / 7739
48
 (OMIM) Constipation due to mass effect of meningocele 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Cohn and Bay-Nielsen (1969) described 7 females with anterior sacral meningocele and partial absence of the sacrum and coccyx. Symptoms included constipation and urinary incontinence. As 1 unaffected female appeared to have transmitted the disorder, the authors suggested ...
Molecular genetics OMIM In a study of 144 patients with neural tube defects and 106 controls, Kibar et al. (2007) tested the hypothesis that mutations in the VANGL1 gene (610132), a human homolog of a Drosophila gene that is required for ...
Population genetics OMIM Orioli et al. (2011) performed a large epidemiologic study describing the prevalence, associated malformations, and maternal characteristics among cases with sirenomelia. Data originated from 19 birth defect surveillance system members of the International Clearinghouse for Birth Defects Surveillance ...