MCID: CDG001
MIFTS: 26

Cdags Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Cdags Syndrome

MalaCards integrated aliases for Cdags Syndrome:

Name: Cdags Syndrome 56 52 58 13 71
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome 58 29
Craniosynostosis, Anal Anomalies, and Porokeratosis 56 52
Cap Syndrome 56 58
Craniosynostosis and Clavicular Hypoplasia, Delayed Closure of the Fontanel, Anal Anomalies and Genitourinary Malformations 52
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome 71

Characteristics:

Orphanet epidemiological data:

58
craniosynostosis-anal anomalies-porokeratosis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
cdags is an acronym - craniosynostosis and clavicular hypoplasia, delayed closure of fontanel, anal anomalies, genitourinary malformations, and skin eruption


HPO:

31
cdags syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Cdags Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85199 Definition Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S). Epidemiology It has been described in seven patients from four unrelated families. Clinical description Cranial abnormalities include a coronal synostosis with wide-open anterior and posterior fontanels and large parietal foramina. In some patients the skin eruption has been classified as porokeratosis (a disorder of keratinization). Sensorineural hearing loss and mild to severe developmental delay are common. Genetic counseling The condition is transmitted as an autosomal recessive trait . Visit the Orphanet disease page for more resources.

MalaCards based summary : Cdags Syndrome, also known as craniosynostosis-anal anomalies-porokeratosis syndrome, is related to microcephaly-capillary malformation syndrome and camptodactyly-arthropathy-coxa vara-pericarditis syndrome. An important gene associated with Cdags Syndrome is CDAGS (Craniosynostosis, Anal Anomalies, And Porokeratosis Syndrome). Affiliated tissues include skin and bone, and related phenotypes are frontal bossing and delayed skeletal maturation

More information from OMIM: 603116

Related Diseases for Cdags Syndrome

Diseases related to Cdags Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microcephaly-capillary malformation syndrome 11.9
2 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 11.3
3 craniosynostosis 10.3
4 porokeratosis 10.3
5 cleft palate, isolated 10.1
6 anus, imperforate 10.1
7 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
8 microcephaly 10.1
9 keratosis 10.1

Graphical network of the top 20 diseases related to Cdags Syndrome:



Diseases related to Cdags Syndrome

Symptoms & Phenotypes for Cdags Syndrome

Human phenotypes related to Cdags Syndrome:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
2 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
3 absent eyelashes 58 31 hallmark (90%) Very frequent (99-80%) HP:0000561
4 absent eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0002223
5 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
6 short thorax 58 31 hallmark (90%) Very frequent (99-80%) HP:0010306
7 hypospadias 58 31 hallmark (90%) Very frequent (99-80%) HP:0000047
8 coronal craniosynostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004440
9 thin fingernail 58 31 hallmark (90%) Very frequent (99-80%) HP:0012742
10 anal atresia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002023
11 abnormality of dental enamel 58 31 hallmark (90%) Very frequent (99-80%) HP:0000682
12 urogenital fistula 58 31 hallmark (90%) Very frequent (99-80%) HP:0100589
13 eczema 58 31 hallmark (90%) Very frequent (99-80%) HP:0000964
14 abnormality of dental morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0006482
15 wide anterior fontanel 58 31 hallmark (90%) Very frequent (99-80%) HP:0000260
16 delayed cranial suture closure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000270
17 tarsal synostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008368
18 ectopic anus 58 31 hallmark (90%) Very frequent (99-80%) HP:0004397
19 large posterior fontanelle 58 31 hallmark (90%) Very frequent (99-80%) HP:0004491
20 porokeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0200044
21 parietal foramina 58 31 hallmark (90%) Very frequent (99-80%) HP:0002697
22 aplastic clavicle 31 hallmark (90%) HP:0006660
23 malar flattening 58 31 frequent (33%) Frequent (79-30%) HP:0000272
24 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
25 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
26 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
27 thick vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0012471
28 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
29 wide mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000154
30 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
31 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
32 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
33 plagiocephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001357
34 ptosis 31 HP:0000508
35 sensorineural hearing impairment 31 HP:0000407
36 midface retrusion 31 HP:0011800
37 sparse scalp hair 31 HP:0002209
38 abnormal palate morphology 58 Very frequent (99-80%)
39 rectovaginal fistula 31 HP:0000143
40 abnormality of the clavicle 58 Very frequent (99-80%)
41 ectropion 31 HP:0000656
42 short clavicles 31 HP:0000894
43 sparse eyelashes 31 HP:0000653
44 rectourethral fistula 31 HP:0025407
45 aplastic clavicles 58 Very frequent (99-80%)
46 short ribs 31 HP:0000773
47 sagittal craniosynostosis 31 HP:0004442
48 lambdoidal craniosynostosis 31 HP:0004443
49 sparse and thin eyebrow 31 HP:0000535

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Face:
frontal bossing
midface hypoplasia

Skeletal Spine:
kyphosis

Head And Neck Mouth:
cleft palate

Abdomen Gastrointestinal:
anal atresia
imperforate anus

Genitourinary Internal Genitalia Female:
rectovaginal fistula

Skin Nails Hair Skin:
porokeratosis
hyperkeratotic plaques (face, elbow, knees)

Head And Neck Ears:
sensorineural hearing loss

Head And Neck Eyes:
ptosis
ectropion
sparse eyelashes
sparse eyebrows

Head And Neck Head:
brachycephaly
delayed closure of fontanels
large anterior and posterior fontanels

Genitourinary External Genitalia Male:
hypospadias
urethrorectal fistula

Skin Nails Hair Hair:
sparse scalp hair
sparse eyelashes
sparse eyebrows

Chest Ribs Sternum Clavicles And Scapulae:
short ribs
clavicular hypoplasia

Neurologic Central Nervous System:
developmental delay

Skeletal Skull:
craniosynostosis (coronal, lambdoid, sagittal)
bilateral parietal foramina

Clinical features from OMIM:

603116

Drugs & Therapeutics for Cdags Syndrome

Search Clinical Trials , NIH Clinical Center for Cdags Syndrome

Genetic Tests for Cdags Syndrome

Genetic tests related to Cdags Syndrome:

# Genetic test Affiliating Genes
1 Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome 29

Anatomical Context for Cdags Syndrome

MalaCards organs/tissues related to Cdags Syndrome:

40
Skin, Bone

Publications for Cdags Syndrome

Articles related to Cdags Syndrome:

# Title Authors PMID Year
1
Characterization of a new syndrome that associates craniosynostosis, delayed fontanel closure, parietal foramina, imperforate anus, and skin eruption: CDAGS. 56
15924278 2005
2
Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome. 56
9733036 1998
3
Craniosynostosis, delayed closure of the fontanelle, anal, genitourinary, and skin abnormalities (CDAGS syndrome): first report in a Mexican patient and review of the literature. 61
28217872 2017
4
Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature review. 61
24095818 2013

Variations for Cdags Syndrome

Expression for Cdags Syndrome

Search GEO for disease gene expression data for Cdags Syndrome.

Pathways for Cdags Syndrome

GO Terms for Cdags Syndrome

Sources for Cdags Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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