Curry-jones Syndrome

Description

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Curry-jones Syndrome

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Nystagmus
  • Cataract
  • Ptosis
  • Ventriculomegaly
  • Syndactyly
  • Microphthalmia

And another 38 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Curry-jones Syndrome Is also known as corpus callosum agenesis-polysyndactyly syndrome, craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Curry-jones Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Medulloblastoma (sequence analysis of SMO gene).

By CGC Genetics (Portugal).

SMO
Specificity
100 %
Genes
100 %
Cancer Hotspot Panel.

By Centogene AG - the Rare Disease Company (Germany).

BCL6, ROS1, BRAF, BRCA1, BRCA2, SMARCB1, SMO, SRC, STK11, HNF1A, TP53, TSC1, TSC2, VHL, EML4, BRD4, CCND1, CCNE1, FBXW7, CD74 , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
100 %
Solid Tumor Panel.

By Centogene AG - the Rare Disease Company (Germany).

ROS1, BRAF, SMARCA4, SMARCB1, ARID1A, SMO, STK11, TP53, TSC1, KDM6A, VHL, KMT2C, CDH1, CDK4, CDKN2A, ASXL1, CTNNB1, DDR2, EGFR, ERBB2 , (...)

View the complete list with 41 more genes
Specificity
2 %
Genes
100 %
SMO.

By Fulgent Genetics Fulgent Genetics (United States).

SMO
Specificity
100 %
Genes
100 %
Hemato-oncology chromosomal microarray.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center (United States).

BLM, BRAF, BRCA1, BRCA2, SMARCB1, KDM5C, SMO, ABI1, SSX1, SSX2, SSX4, SS18, STAG2, STAT5B, TAF15, TCF12, TERT, TFE3, TFEB, TP53 , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Focus::Oncomine™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. (United States).

ROS1, BRAF, SMO, CDK4, CTNNB1, DDR2, EGFR, ERBB2, ERBB3, ERBB4, FGFR2, FGFR3, AKT1, MTOR, ALK, GNA11, GNAQ, HRAS, IDH1, IDH2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Focus::Renal® NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. (United States).

RHEB, ROS1, BRAF, ARID1A, KDM5C, SMO, TP53, TSC1, TSC2, VHL, SETD2, PBRM1, EGFR, EPHB4, ERBB2, FGFR1, FLT3, AKT1, AKT2, MTOR , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Somatic Overgrowth Gene Set.

By Genomics and Pathology Services Washington University in St. Louis (United States).

SMO, TSC1, TSC2, AKT1, AKT2, AKT3, MTOR, GNA11, GNAQ, IDH1, IDH2, PIK3CA, PIK3R2, PTEN, RASA1
Specificity
7 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Symptoms Checker

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