Aliases & Classifications for Cdags Syndrome

MalaCards integrated aliases for Cdags Syndrome:

Name: Cdags Syndrome 58 54 74
Craniosynostosis, Anal Anomalies, and Porokeratosis 58 54
Craniosynostosis and Clavicular Hypoplasia, Delayed Closure of the Fontanel, Anal Anomalies and Genitourinary Malformations 54
Craniosynostosis, Anal Anomalies, and Porokeratosis Syndrome 13
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome 74
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome 30
Cap Syndrome 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
cdags syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Cdags Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 85199Disease definitionCraniosynostosis - 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 recessivetrait.Visit the Orphanet disease page for more resources.

MalaCards based summary : Cdags Syndrome, also known as craniosynostosis, anal anomalies, and porokeratosis, 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 related phenotypes are frontal bossing and delayed skeletal maturation

Description 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 11.2
2 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 11.1
3 craniosynostosis 10.2
4 porokeratosis 10.1

Symptoms & Phenotypes for Cdags Syndrome

Human phenotypes related to Cdags Syndrome:

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

Symptoms via clinical synopsis from OMIM:

58
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 30

Anatomical Context for Cdags Syndrome

MalaCards organs/tissues related to Cdags Syndrome:

42
Skin

Publications for Cdags Syndrome

Articles related to Cdags Syndrome:

# Title Authors Year
1
Craniosynostosis, delayed closure of the fontanelle, anal, genitourinary, and skin abnormalities (CDAGS syndrome): first report in a Mexican patient and review of the literature. ( 28217872 )
2017
2
Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature review. ( 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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