CRJS
MCID: CRR017
MIFTS: 37

Curry-Jones Syndrome (CRJS)

Categories: Bone diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Curry-Jones Syndrome

MalaCards integrated aliases for Curry-Jones Syndrome:

Name: Curry-Jones Syndrome 56 58 73 29 6
Craniofacial Malformations, Asymmetric, with Polysyndactyly and Abnormal Skin and Gut Development 56 52 73
Curry-Jones Syndrome, Somatic Mosaic 56 39
Curry Jones Syndrome 52 73
Crjs 56 73
Corpus Callosum Agenesis-Polysyndactyly Syndrome 58
Corpus Callosum Agenesis Polysyndactyly 52
Winter Shortland Temple Syndrome 71
Digestive System Abnormalities 43

Characteristics:

Orphanet epidemiological data:

58
curry-jones syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
somatic mosaicism


HPO:

31
curry-jones syndrome:
Inheritance somatic mosaicism


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Curry-Jones Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1553 Definition 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. Visit the Orphanet disease page for more resources.

MalaCards based summary : Curry-Jones Syndrome, also known as craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development, is related to silver-russell syndrome 1 and contractural arachnodactyly, congenital. An important gene associated with Curry-Jones Syndrome is SMO (Smoothened, Frizzled Class Receptor). The drugs Zinc and Copper have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and smooth muscle, and related phenotypes are hypertelorism and hypopigmented skin patches

OMIM : 56 Curry-Jones syndrome is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas (summary by Twigg et al., 2016). (601707)

UniProtKB/Swiss-Prot : 73 Curry-Jones syndrome: A multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas.

Related Diseases for Curry-Jones Syndrome

Graphical network of the top 20 diseases related to Curry-Jones Syndrome:



Diseases related to Curry-Jones Syndrome

Symptoms & Phenotypes for Curry-Jones Syndrome

Human phenotypes related to Curry-Jones Syndrome:

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 hypopigmented skin patches 58 31 hallmark (90%) Very frequent (99-80%) HP:0001053
3 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
4 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
5 broad thumb 58 31 occasional (7.5%) Frequent (79-30%) HP:0011304
6 aplasia/hypoplasia of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0008065
7 facial asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0000324
8 microphthalmia 58 31 frequent (33%) Frequent (79-30%) HP:0000568
9 ventriculomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002119
10 generalized hirsutism 58 31 frequent (33%) Frequent (79-30%) HP:0002230
11 foot polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001829
12 agenesis of corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0001274
13 craniosynostosis 58 31 frequent (33%) Frequent (79-30%) HP:0001363
14 toe syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001770
15 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
16 intestinal malrotation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002566
17 preaxial hand polydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001177
18 optic nerve coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000588
19 polymicrogyria 31 occasional (7.5%) HP:0002126
20 hirsutism 31 occasional (7.5%) HP:0001007
21 arnold-chiari type i malformation 31 occasional (7.5%) HP:0007099
22 chronic constipation 31 occasional (7.5%) HP:0012450
23 duplication of thumb phalanx 31 occasional (7.5%) HP:0009942
24 cutaneous syndactyly of toes 31 occasional (7.5%) HP:0010621
25 hemimegalencephaly 31 occasional (7.5%) HP:0007206
26 global developmental delay 31 HP:0001263
27 blepharophimosis 31 HP:0000581
28 cutaneous finger syndactyly 31 HP:0010554
29 abnormality of the skin 31 HP:0000951
30 anal stenosis 31 HP:0002025
31 abnormality of thumb phalanx 58 Frequent (79-30%)
32 coloboma 31 HP:0000589
33 syndactyly 31 HP:0001159

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Face:
facial asymmetry

Neurologic Central Nervous System:
ventriculomegaly
psychomotor delay, mild to moderate
polymicrogyria (in some patients)
agenesis of the corpus callosum, partial or complete
hemimegalencephaly (in some patients)
more
Skeletal Hands:
broad thumbs (in some patients)
preaxial polydactyly (rare)
duplicated thumbs (in some patients)

Skeletal Skull:
unilateral coronal synostosis

Skeletal Limbs:
asymmetric leg length (rare)

Skin Nails Hair Hair:
ectopic patch of facial hair, near eyes or on cheek
abnormal hair growth on shoulders and limbs (rare)
hirsutism (rare)

Head And Neck Eyes:
microphthalmia
coloboma
eyelid dysmorphism
ectopic patch of hair near eyes

Skin Nails Hair Skin:
cutaneous syndactyly of toes (in some patients)
hypopigmented streaky lesions
cutaneous syndactyly of fingers

Head And Neck Head:
unilateral coronal synostosis

Abdomen Gastrointestinal:
malrotation (in some patients)
dysmotility (in some patients)
pseudoobstruction (in some patients)
chronic constipation (in some patients)
hamartomas (in some patients)
more
Skeletal Feet:
bifid hallux (in some patients)
preaxial polydactyly (in some patients)

Neoplasia:
desmoplastic medulloblastoma of cerebellum (rare)

Clinical features from OMIM:

601707

Drugs & Therapeutics for Curry-Jones Syndrome

Drugs for Curry-Jones Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Zinc Approved, Investigational 7440-66-6 32051
2
Copper Approved, Investigational 7440-50-8 27099
3
Chromium Approved 7440-47-3 27668
4
Manganese Approved, Nutraceutical 7439-96-5 27854
5 Anesthetics
6 Trace Elements
7 Copper Supplement
8 Micronutrients

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Survey of the Indications for Esophagogastroduodenoscopy (EGD) in Children's Hospital of Fudan University Completed NCT02789514
2 Children's Hospital of Fudan University Completed NCT03603093
3 Follow-up Study of Children Aged 2 Years With Gastrointestinal Malformations and Postnatal Surgery Completed NCT01451307
4 Evaluation of the Prevalence of Functional Digestive Disorders During Primary Sjögren Gougerot Syndrome Completed NCT03157011
5 Prenatal Ultrasound Screening of Intestinal Malrotation With a Higher Risk of Volvulus: Value of The Relative Position of The Superior Mesenteric Artery and Vein. Future of the Children With an Antenatal Malrotation Suspicion Completed NCT03356314
6 Prenatal Diagnosis of Antenatal Midgut Volvulus: Specific Ultrasound Features Completed NCT03362450
7 Characterization of At-risk Population and Prognosis Factors for SACRO-coccygeal Teratoma in CURRARINO Syndrome. A Clinical, Molecular and Pathological Study. Completed NCT00780117
8 Neurodevelopment and Neuroimaging in Parenterally-fed Infants and Young Children Completed NCT00392730
9 Brain Manganese Deposition in High Risk Neonates Completed NCT00392977
10 Flourish Pediatric Esophageal Atresia Device Post-Approval Study (Flourish) Recruiting NCT03615495

Search NIH Clinical Center for Curry-Jones Syndrome

Cochrane evidence based reviews: digestive system abnormalities

Genetic Tests for Curry-Jones Syndrome

Genetic tests related to Curry-Jones Syndrome:

# Genetic test Affiliating Genes
1 Curry-Jones Syndrome 29 SMO

Anatomical Context for Curry-Jones Syndrome

MalaCards organs/tissues related to Curry-Jones Syndrome:

40
Skin, Eye, Smooth Muscle, Bone, Brain, Cerebellum

Publications for Curry-Jones Syndrome

Articles related to Curry-Jones Syndrome:

(show all 13)
# Title Authors PMID Year
1
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. 61 6 56
27236920 2016
2
Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway. 61 56 6
18798318 2008
3
Mild case of Curry-Jones syndrome. 61 56 6
16531740 2006
4
Craniofacial abnormalities, agenesis of the corpus callosum, polysyndactyly and abnormal skin and gut development--the Curry Jones syndrome. 56 61 6
7606318 1995
5
Craniosynostosis update 1987. 61 56 6
3144990 1988
6
Brachycephalosyndactyly with ptosis, cataract, colobomas, and linear areas of skin depigmentation. 56
10327257 1999
7
Occurrence and characterization of medulloblastoma in a patient with Curry-Jones syndrome. 61
31825089 2020
8
Happle-Tinschert, Curry-Jones and segmental basal cell naevus syndromes, overlapping disorders caused by somatic mutations in hedgehog signalling genes: the mosaic hedgehog spectrum. 61
31120550 2020
9
Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn. 61
28386950 2017
10
Happle-Tinschert syndrome can be caused by a mosaic SMO mutation and is suggested to be a variant of Curry-Jones syndrome. 61
27484736 2016
11
Happle-Tinschert syndrome can be caused by a mosaic SMO mutation and is suggested to be a variant of Curry-Jones syndrome: reply from the authors. 61
27534807 2016
12
A chemically-responsive nanojunction within a silver nanowire. 61
22360286 2012
13
Comparative study of the temporomandibular joint space in maximum intercuspation and canine edge-to-edge positions in deep bite and non-deep bite subjects. 61
10888279 2000

Variations for Curry-Jones Syndrome

ClinVar genetic disease variations for Curry-Jones Syndrome:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SMO NM_005631.5(SMO):c.1234C>T (p.Leu412Phe)SNV Pathogenic 245609 rs879255280 7:128846398-128846398 7:129206557-129206557
2 SMO NM_005631.5(SMO):c.2177G>A (p.Arg726Gln)SNV Uncertain significance 135263 rs142495470 7:128852105-128852105 7:129212264-129212264

UniProtKB/Swiss-Prot genetic disease variations for Curry-Jones Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 SMO p.Leu412Phe VAR_077087 rs879255280

Expression for Curry-Jones Syndrome

Search GEO for disease gene expression data for Curry-Jones Syndrome.

Pathways for Curry-Jones Syndrome

GO Terms for Curry-Jones Syndrome

Sources for Curry-Jones Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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