Familial caudal dysgenesis

General Information (adopted from Orphanet):

Synonyms, Signs: SDAM CAUDAL DYSGENESIS SYNDROME, INCLUDED
SACRAL AGENESIS, INCLUDED
SIRENOMELIA, INCLUDED
CAUDAL REGRESSION SYNDROME, INCLUDED
Rudd-Klimek syndrome
Number of Symptoms 39
OrphanetNr: 1768
OMIM Id: 600145
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic syndrome with a central nervous system malformation as major feature
 -Rare genetic disease
Other syndrome with a central nervous system malformation as major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease
Syndromic anorectal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000011) Neurogenic bladder 11 / 7739
2
 (HPO:0000130) Abnormality of the uterus Frequent [Orphanet] 86 / 7739
3
 (HPO:0008678) Renal hypoplasia/aplasia 127 / 7739
4
 (HPO:0000079) Abnormality of the urinary system Frequent [Orphanet] 88 / 7739
5
 (HPO:0000072) Hydroureter Frequent [Orphanet] 146 / 7739
6
 (HPO:0000069) Abnormality of the ureter Frequent [Orphanet] 47 / 7739
7
 (HPO:0100515) Pollakisuria 12 / 7739
8
 (HPO:0001140) Epibulbar dermoid 11 / 7739
9
 (HPO:0001287) Meningitis 46 / 7739
10
 (HPO:0006946) Recurrent meningitis 6 / 7739
11
 (HPO:0002315) Headache 175 / 7739
12
 (HPO:0010305) Absence of the sacrum Frequent [Orphanet] 17 / 7739
13
 (HPO:0007293) Anterior sacral meningocele 4 / 7739
14
 (HPO:0003418) Back pain 17 / 7739
15
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
16
 (HPO:0009790) Hemisacrum 4 / 7739
17
 (HPO:0001562) Oligohydramnios Frequent [Orphanet] 75 / 7739
18
 (HPO:0001195) Single umbilical artery Very frequent [Orphanet] 23 / 7739
19
 (HPO:0002019) Constipation 194 / 7739
20
 (HPO:0002023) Anal atresia Frequent [Orphanet] 135 / 7739
21
 (HPO:0005224) Rectal abscess 10 / 7739
22
 (HPO:0001545) Anteriorly placed anus Frequent [Orphanet] 55 / 7739
23
 (HPO:0030680) Abnormality of cardiovascular system morphology Very frequent [Orphanet] 355 / 7739
24
 (HPO:0001669) Transposition of the great arteries Frequent [Orphanet] 36 / 7739
25
 (HPO:0012033) Sacral lipoma 2 / 7739
26
 (OMIM) Urinary retention due to mass effect of meningocele 3 / 7739
27
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
28
 (OMIM) 'Scimitar' sign on X-ray 3 / 7739
29
 (OMIM) Anterior sacral hemidefect 3 / 7739
30
 (OMIM) Prolonged labor 3 / 7739
31
 (OMIM) Sacral agenesis 4 / 7739
32
 (HPO:0011420) Death Frequent [Orphanet] 184 / 7739
33
 (OMIM) Coccyx defects 3 / 7739
34
 (OMIM) Lipoma, anterior sacral 3 / 7739
35
 (OMIM) Neural tube defects may occur 3 / 7739
36
 (OMIM) Obstructed labor 3 / 7739
37
 (OMIM) Cysts tend to enlarge with age 3 / 7739
38
 (OMIM) Tethered spinal cord 5 / 7739
39
 (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 ...