Craniosynostosis-anal anomalies-porokeratosis syndrome

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).



Input patient's signs and symptoms


Narrow down the case reports



Total: 3 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(48.8%)		 28217872
 Craniosynostosis, delayed closure of the fontanelle, anal, genitourinary, and skin abnormalities (CDAGS syndrome): first report in a Mexican patient and review of the literature.
Pastrana-Ayala R, Pena-Castro GL, Valencia-Herrera AM, Mena-Cedillos CA, Toussaint-Caire S, Akaki-Carreno YI, Garcia-Delgado C, Moran-Barroso VF, Toledo-Bahena M.
Int J Dermatol. 2017;56(4):435-439.
Brachycephaly Clinodactyly
Child, Preschool Craniosynostosis Females Homo sapiens Imaging, Three-Dimensional Mexico Porokeratosis Skin Abnormalities Skin Cream X-Ray Computed Tomography
2
(44.7%)		 24095818
 Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature review.
Chouery E, Guissart C, Megarbane H, Aral B, Nassif C, Thauvin-Robinet C, Faivre L, Megarbane A.
Eur J Med Genet. 2013;56(12):674-7.
Microcephaly Downslanted palpebral fissures
MCM5 RECQL4 USB1
Cell Cycle Proteins Child, Preschool Craniosynostosis Females Homo sapiens Infant Porokeratosis RecQ Helicases Sibling
3
(29.4%)		 25614348
 [Papillary edema in Muckle-Wells syndrome].
Wirths G, Grenzebach U, Eter N.
Ophthalmologe. 2015;112(9):778-82.
Conjunctivitis
IL1B
Anti-Inflammatory Agents Child Cryopyrin-Associated Periodic Syndromes Differential Diagnosis Homo sapiens Male Papilledema Tomography, Optical Coherence
        

Phenotype(s) retrieved from Orphanet

    Total: 35

HPO ID Term Frequency
HP:0000047 Hypospadias Very frequent (99-80%)
HP:0000174 Abnormal palate morphology Very frequent (99-80%)
HP:0000248 Brachycephaly Very frequent (99-80%)
HP:0000260 Wide anterior fontanel Very frequent (99-80%)
HP:0000270 Delayed cranial suture closure Very frequent (99-80%)
HP:0000561 Absent eyelashes Very frequent (99-80%)
HP:0000682 Abnormality of dental enamel Very frequent (99-80%)
HP:0000889 Abnormality of the clavicle Very frequent (99-80%)
HP:0000964 Eczema Very frequent (99-80%)
HP:0002007 Frontal bossing Very frequent (99-80%)
HP:0002023 Anal atresia Very frequent (99-80%)
HP:0002223 Absent eyebrow Very frequent (99-80%)
HP:0002697 Parietal foramina Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0004397 Ectopic anus Very frequent (99-80%)
HP:0004440 Coronal craniosynostosis Very frequent (99-80%)
HP:0004491 Large posterior fontanelle Very frequent (99-80%)
HP:0006482 Abnormality of dental morphology Very frequent (99-80%)
HP:0006660 Aplastic clavicle Very frequent (99-80%)
HP:0008368 Tarsal synostosis Very frequent (99-80%)
HP:0010306 Short thorax Very frequent (99-80%)
HP:0012742 Thin fingernail Very frequent (99-80%)
HP:0100589 Urogenital fistula Very frequent (99-80%)
HP:0200044 Porokeratosis Very frequent (99-80%)
HP:0000154 Wide mouth Frequent (79-30%)
HP:0000272 Malar flattening Frequent (79-30%)
HP:0000347 Micrognathia Frequent (79-30%)
HP:0000365 Hearing impairment Frequent (79-30%)
HP:0000520 Proptosis Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001263 Global developmental delay Frequent (79-30%)
HP:0012471 Thick vermilion border Frequent (79-30%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0001357 Plagiocephaly Occasional (29-5%)
HP:0002808 Kyphosis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 4

HPO ID Term # of case reports
HP:0000509 Conjunctivitis 1
HP:0000988 Skin rash 1
HP:0001945 Fever 1
HP:0012378 Fatigue 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID