MCID: CDG001
MIFTS: 25

Cdags Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Cdags Syndrome

MalaCards integrated aliases for Cdags Syndrome:

Name: Cdags Syndrome 57 53 59 13 72
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome 59 29
Craniosynostosis, Anal Anomalies, and Porokeratosis 57 53
Cap Syndrome 57 59
Craniosynostosis and Clavicular Hypoplasia, Delayed Closure of the Fontanel, Anal Anomalies and Genitourinary Malformations 53
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome 72

Characteristics:

Orphanet epidemiological data:

59
craniosynostosis-anal anomalies-porokeratosis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
cdags syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 603116
MESH via Orphanet 45 C536789
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C1864186
Orphanet 59 ORPHA85199
MedGen 42 C1864186
UMLS 72 C1859690 C1864186

Summaries for Cdags Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 85199DefinitionCraniosynostosis - 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).EpidemiologyIt has been described in seven patients from four unrelated families.Clinical descriptionCranial 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 counselingThe 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:

(show all 11)
# 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 keratosis 10.1
9 microcephaly 10.1
10 muckle-wells syndrome 9.7
11 wells syndrome 9.7

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:

59 32 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
2 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
3 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
4 short thorax 59 32 hallmark (90%) Very frequent (99-80%) HP:0010306
5 hypospadias 59 32 hallmark (90%) Very frequent (99-80%) HP:0000047
6 coronal craniosynostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004440
7 thin fingernail 59 32 hallmark (90%) Very frequent (99-80%) HP:0012742
8 anal atresia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002023
9 abnormality of dental enamel 59 32 hallmark (90%) Very frequent (99-80%) HP:0000682
10 urogenital fistula 59 32 hallmark (90%) Very frequent (99-80%) HP:0100589
11 eczema 59 32 hallmark (90%) Very frequent (99-80%) HP:0000964
12 abnormality of dental morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0006482
13 wide anterior fontanel 59 32 hallmark (90%) Very frequent (99-80%) HP:0000260
14 delayed cranial suture closure 59 32 hallmark (90%) Very frequent (99-80%) HP:0000270
15 tarsal synostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008368
16 ectopic anus 59 32 hallmark (90%) Very frequent (99-80%) HP:0004397
17 absent eyelashes 59 32 hallmark (90%) Very frequent (99-80%) HP:0000561
18 large posterior fontanelle 59 32 hallmark (90%) Very frequent (99-80%) HP:0004491
19 absent eyebrow 59 32 hallmark (90%) Very frequent (99-80%) HP:0002223
20 porokeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0200044
21 parietal foramina 59 32 hallmark (90%) Very frequent (99-80%) HP:0002697
22 aplastic clavicle 32 hallmark (90%) HP:0006660
23 malar flattening 59 32 frequent (33%) Frequent (79-30%) HP:0000272
24 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
25 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
26 global developmental delay 59 32 frequent (33%) Frequent (79-30%) HP:0001263
27 thick vermilion border 59 32 frequent (33%) Frequent (79-30%) HP:0012471
28 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
29 wide mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000154
30 proptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000520
31 kyphosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002808
32 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
33 plagiocephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001357
34 ptosis 32 HP:0000508
35 sensorineural hearing impairment 32 HP:0000407
36 sparse scalp hair 32 HP:0002209
37 midface retrusion 32 HP:0011800
38 abnormal palate morphology 59 Very frequent (99-80%)
39 rectovaginal fistula 32 HP:0000143
40 abnormality of the clavicle 59 Very frequent (99-80%)
41 ectropion 32 HP:0000656
42 short clavicles 32 HP:0000894
43 sparse eyelashes 32 HP:0000653
44 rectourethral fistula 32 HP:0025407
45 aplastic clavicles 59 Very frequent (99-80%)
46 short ribs 32 HP:0000773
47 sagittal craniosynostosis 32 HP:0004442
48 lambdoidal craniosynostosis 32 HP:0004443
49 sparse and thin eyebrow 32 HP:0000535

Symptoms via clinical synopsis from OMIM:

57
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:

41
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. 8
15924278 2005
2
Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome. 8
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. 38
28217872 2017
4
Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature review. 38
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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