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Disease Profile

Curry Jones syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

Q87.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development; Corpus callosum agenesis polysyndactyly

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

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.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Finger syndactyly
0006101
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypopigmented skin patches
Patchy loss of skin color
0001053
30%-79% of people have these symptoms
Agenesis of corpus callosum
0001274
Aplasia/Hypoplasia of the skin
Absent/small skin
Absent/underdeveloped skin

[ more ]

0008065
Broad thumb
Broad thumbs
Wide/broad thumb

[ more ]

0011304
Craniosynostosis
0001363
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face

[ more ]

0000324
Foot polydactyly
Duplication of bones of the toes
0001829
Generalized hirsutism
Excessive hairiness over body
0002230
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Microphthalmia
Abnormally small eyeball
0000568
Toe syndactyly
Fused toes
Webbed toes

[ more ]

0001770
Ventriculomegaly
0002119
5%-29% of people have these symptoms
Arnold-Chiari type I malformation
0007099
Chronic constipation
Infrequent bowel movements
0012450
Cutaneous syndactyly of toes
Webbed skin of toes
0010621
Duplication of thumb phalanx
0009942
Hemimegalencephaly
0007206
Hirsutism
Excessive hairiness
0001007
Intestinal malrotation
0002566
Iris coloboma
Cat eye
0000612
Optic nerve coloboma
0000588
Polymicrogyria
More grooves in brain
0002126
Preaxial hand polydactyly
Extra thumb
0001177
Percent of people who have these symptoms is not available through HPO
Abnormality of the skin
0000951
Anal stenosis
Narrowing of anal opening
0002025
Blepharophimosis
Narrow opening between the eyelids
0000581
Coloboma
Notched pupil
0000589
Cutaneous finger syndactyly
Webbed fingers
Webbed skin of fingers

[ more ]

0010554
Global developmental delay
0001263
Somatic mosaicism
0001442
Syndactyly
Webbed fingers or toes
0001159

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Curry Jones syndrome. Click on the link to view a sample search on this topic.