Curry-Jones syndrome

Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.



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Narrow down the case reports



Total: 4 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(31.0%)		 16531740
 Mild case of Curry-Jones syndrome.
Thomas ER, Wakeling EL, Goodman FR, Dickinson JC, Hall CM, Brady AF.
Clin Dysmorphol. 2006;15(2):115-7.
Microphthalmia Syndactyly
rs879255280
Child, Preschool Congenital Foot Deformity Congenital Hand Deformities Homo sapiens Infant Male Preoperative Care Syndrome
2
(4.0%)		 31120550
 Happle-Tinschert, Curry-Jones and segmental basal cell naevus syndromes: overlapping disorders caused by somatic mutations in hedgehog-signalling genes - the mosaic Hedgehog spectrum.
Lovgren ML, Zhou Y, Hrkova G, Dallos T, Colmenero I, Twigg SRF, Moss C.
Br J Dermatol. 2019;:.
Constipation
PTCH1 SMO
c|SUB|C|1234|T p|SUB|L|412|F
Basal Cell Nevus Syndrome Hedgehog Proteins Homo sapiens Mutation Patched-1 Receptor Skin Neoplasms
2
(4.0%)		 28386950
(5933242)
 Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.
Wigby K, Twigg SRF, Broderick R, Davenport KP, Wilkie AOM, Bickler SW, Jones MC.
Am J Med Genet A. 2017;173(6):1586-1592.
Intestinal malrotation
SMO
c|SUB|C|1234|T p|SUB|L|412|F
Craniofacial Abnormalities Craniosynostosis Females Gastrointestinal Diseases Homo sapiens Infant Intestines Mutation Skin Abnormalities Smoothened Receptor Syndactyly
2
(4.0%)		 18798318
 Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway.
Grange DK, Clericuzio CL, Bayliss SJ, Berk DR, Heideman RL, Higginson JK, Julian S, Lind A.
Am J Med Genet A. 2008;146A(20):2589-97.
Occipital meningocele
GLI1 GLI3 PTCH1
rs879255280
Brain Neoplasms Child, Preschool Females Hamartoma Homo sapiens Hydrocephalus Infant Kruppel-Like Transcription Factors Male Medulloblastoma Nerve Tissue Proteins Patched Receptors Patched-1 Receptor Receptors, Cell Surface Skin Neoplasms Syndactyly Syndrome Zinc Finger Protein Gli3
        

Phenotype(s) retrieved from Orphanet

    Total: 19

HPO ID Term Frequency
HP:0000316 Hypertelorism Very frequent (99-80%)
HP:0001053 Hypopigmented skin patches Very frequent (99-80%)
HP:0006101 Finger syndactyly Very frequent (99-80%)
HP:0000324 Facial asymmetry Frequent (79-30%)
HP:0000568 Microphthalmia Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001274 Agenesis of corpus callosum Frequent (79-30%)
HP:0001363 Craniosynostosis Frequent (79-30%)
HP:0001770 Toe syndactyly Frequent (79-30%)
HP:0001829 Foot polydactyly Frequent (79-30%)
HP:0002119 Ventriculomegaly Frequent (79-30%)
HP:0002230 Generalized hirsutism Frequent (79-30%)
HP:0008065 Aplasia/Hypoplasia of the skin Frequent (79-30%)
HP:0009602 Abnormality of thumb phalanx Frequent (79-30%)
HP:0011304 Broad thumb Frequent (79-30%)
HP:0000588 Optic nerve coloboma Occasional (29-5%)
HP:0000612 Iris coloboma Occasional (29-5%)
HP:0001177 Preaxial hand polydactyly Occasional (29-5%)
HP:0002566 Intestinal malrotation Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 7

HPO ID Term # of case reports
HP:0000568 Microphthalmia 1
HP:0001159 Syndactyly 1
HP:0002664 Neoplasm 1
HP:0002671 Basal cell carcinoma 1
HP:0005214 Intestinal obstruction 1
HP:0010442 Polydactyly 1
HP:0100699 Scarring 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
SMO smoothened, frizzled class receptor 6608