Aliases & Classifications for Cdags Syndrome

MalaCards integrated aliases for Cdags Syndrome:

Name: Cdags Syndrome 57 53 73
Craniosynostosis, Anal Anomalies, and Porokeratosis 57 53
Craniosynostosis and Clavicular Hypoplasia, Delayed Closure of the Fontanel, Anal Anomalies and Genitourinary Malformations 53
Craniosynostosis, Anal Anomalies, and Porokeratosis Syndrome 13
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome 73
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome 29
Cap Syndrome 57

Characteristics:

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:



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: 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 malar flattening and frontal bossing

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

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

Human phenotypes related to Cdags Syndrome:

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

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

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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