Craniosynostosis - anal anomalies - porokeratosis

General Information (adopted from Orphanet):

Synonyms, Signs: CRANIOSYNOSTOSIS, ANAL ANOMALIES, AND POROKERATOSIS
cap syndrome
CDAGS syndrome
Number of Symptoms 46
OrphanetNr: 85199
OMIM Id: 603116
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Cleidocranial dysplasia and isolated cranial ossification defect
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic craniosynostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000143) Rectovaginal fistula 18 / 7739
2
 (HPO:0000047) Hypospadias Very frequent [Orphanet] 250 / 7739
3
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
4
 (HPO:0004440) Coronal craniosynostosis 38 / 7739
5
 (HPO:0000154) Wide mouth Frequent [Orphanet] 137 / 7739
6
 (HPO:0000272) Malar flattening 277 / 7739
7
 (HPO:0001363) Craniosynostosis 132 / 7739
8
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
9
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
10
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
11
 (HPO:0000175) Cleft palate 349 / 7739
12
 (HPO:0000653) Sparse eyelashes 58 / 7739
13
 (HPO:0011800) Midface retrusion Frequent [Orphanet] 221 / 7739
14
 (HPO:0002209) Sparse scalp hair 59 / 7739
15
 (HPO:0002697) Parietal foramina 12 / 7739
16
 (HPO:0000270) Delayed cranial suture closure 33 / 7739
17
 (HPO:0000656) Ectropion 25 / 7739
18
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
19
 (HPO:0011324) Multiple suture craniosynostosis 22 / 7739
20
 (HPO:0004442) Sagittal craniosynostosis 16 / 7739
21
 (HPO:0000174) Abnormality of the palate Occasional [Orphanet] 298 / 7739
22
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
23
 (HPO:0012471) Thick vermilion border Frequent [Orphanet] 115 / 7739
24
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
25
 (HPO:0200102) Sparse or absent eyelashes Very frequent [Orphanet] 64 / 7739
26
 (HPO:0004443) Lambdoidal craniosynostosis 15 / 7739
27
 (HPO:0000508) Ptosis 459 / 7739
28
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
29
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
30
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
31
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
32
 (HPO:0001263) Global developmental delay 853 / 7739
33
 (HPO:0000773) Short ribs 70 / 7739
34
 (HPO:0006660) Aplastic clavicles Very frequent [Orphanet] 70 / 7739
35
 (HPO:0000894) Short clavicles 30 / 7739
36
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
37
 (HPO:0001545) Anteriorly placed anus Frequent [Orphanet] 55 / 7739
38
 (HPO:0002023) Anal atresia Very frequent [Orphanet] 135 / 7739
39
 (HPO:0200044) Porokeratosis 11 / 7739
40
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
41
 (OMIM) Large anterior and posterior fontanels 1 / 7739
42
 (OMIM) Bilateral parietal foramina 1 / 7739
43
 (OMIM) Urethrorectal fistula 1 / 7739
44
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
45
 (OMIM) Hyperkeratotic plaques 2 / 7739
46
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Mendoza-Londono et al. (2005) described the clinical characterization, molecular analysis, and genetic mapping of a distinct genetic disorder, designated by the acronym CDAGS, which summarizes its most prominent features: 'C' stands for craniosynostosis and clavicular hypoplasia; 'D' stands ...
Molecular genetics OMIM In affected members of the family originally reported by them, Flanagan et al. (1998) analyzed the FGFR1 (136350), FGFR2 (176943), FGFR3 (134934), and TWIST1 (601622) genes for mutations associated with craniosynostosis; no abnormalities were found.

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