Rare Pulmonology News

Disease Profile

Craniosynostosis, anal anomalies, and porokeratosis

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

Infancy

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ICD-10

Q87.8

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)

Craniosynostosis and clavicular hypoplasia, Delayed closure of the fontanel, Anal anomalies and Genitourinary malformations; CDAGS syndrome

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases

Summary

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

Orpha Number: 85199

Definition
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).

Epidemiology
It has been described in seven patients from four unrelated families.

Clinical description
Cranial abnormalities include a coronal synostosis with wide-open anterior and posterior fontanels and large parietal foramina. In some patients the skin eruption has been classified as porokeratosis (a disorder of keratinization). Sensorineural hearing loss and mild to severe developmental delay are common.

Genetic counseling
The condition is transmitted as an autosomal recessive trait.

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
Abnormality of dental enamel
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality

[ more ]

0000682
Abnormality of dental morphology
Abnormality of dental shape
Abnormally shaped teeth
Deformity of teeth
Dental deformity
Dental malformations
Malformed teeth
Misshapen teeth
Misshapened teeth

[ more ]

0006482
Absent eyebrow
Failure of development of eyebrows
0002223
Absent eyelashes
Failure of development of eyelashes
0000561
Anal atresia
Absent anus
0002023
Aplastic clavicle
Absent collarbone
0006660
Brachycephaly
Short and broad skull
0000248
Coronal craniosynostosis
0004440
Delayed cranial suture closure
0000270
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

0002750
Ectopic anus
Abnormal anus position
0004397
Eczema
0000964
Frontal bossing
0002007
Hypospadias
0000047
Large posterior fontanelle
0004491
Parietal foramina
0002697
Porokeratosis
0200044
Short thorax
Shorter than typical length between neck and abdomen
0010306
Tarsal synostosis
Fused ankle bones
0008368
Thin fingernail
0012742
Urogenital fistula
0100589
Wide anterior fontanel
Wider-than-typical soft spot of skull
0000260
30%-79% of people have these symptoms
Global developmental delay
0001263
Hearing impairment
Deafness
Hearing defect

[ more ]

0000365
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Malar flattening
Zygomatic flattening
0000272
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes

[ more ]

0000520
Thick vermilion border
Full lips
Increased volume of lip
Plump lips
Prominent lips
Thick lips

[ more ]

0012471
Wide mouth
Broad mouth
Large mouth

[ more ]

0000154
5%-29% of people have these symptoms
Cleft palate
Cleft roof of mouth
0000175
Kyphosis
Hunched back
Round back

[ more ]

0002808
Plagiocephaly
Flat head syndrome
Flattening of skull
Rhomboid shaped skull

[ more ]

0001357
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Ectropion
Eyelid turned out
0000656
Lambdoidal craniosynostosis
0004443
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface

[ more ]

0011800
Ptosis
Drooping upper eyelid
0000508
Rectourethral fistula
0025407
Rectovaginal fistula
Abnormal connection between rectum and vagina
0000143
Sagittal craniosynostosis
Early closure of midline skull joint
Midline skull joint closes early

[ more ]

0004442
Sensorineural hearing impairment
0000407
Short clavicles
Short collarbone
0000894
Short ribs
0000773
Sparse and thin eyebrow
Thin, sparse eyebrows
0000535
Sparse eyelashes
Scant eyelashes
Scanty eyelashes
Thin eyelashes

[ more ]

0000653
Sparse scalp hair
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair

[ more ]

0002209

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 Craniosynostosis, anal anomalies, and porokeratosis. Click on the link to view a sample search on this topic.