Rare Oncology News

Disease Profile

Cerebro-facio-articular 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

Infancy

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ICD-10

-

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)

Van Maldergem syndrome; Cerebro-facio-articular syndrome of Van Maldergem; Cerebrofacioarticular syndrome;

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

Cerebro-facio-articular syndrome, which is also known as van Maldergem syndrome, is a rare condition that was first described in 1992. Key features of the condition include characteristic facial features, hand abnormalities, moderate to severe intellectual disability, poor muscle tone and joint hyperlaxity. Cerebro-facio-articular syndrome can be caused by changes (mutations) in the DCHS1 or FAT4 genes and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.[1][2]

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
Abnormal facial shape
Unusual facial appearance
0001999
Camptodactyly
Permanent flexion of the finger or toe
0012385
Global developmental delay
0001263
Infantile muscular hypotonia
Decreased muscle tone in infant
0008947
Microtia
Small ears
Underdeveloped ears

[ more ]

0008551
30%-79% of people have these symptoms
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

0000405
Gastrostomy tube feeding in infancy
0011471
Intellectual disability, moderate
IQ between 34 and 49
0002342
Large fontanelles
Wide fontanelles
0000239
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Osteopenia
0000938
Renal hypoplasia
Small kidneys
Underdeveloped kidneys

[ more ]

0000089
Syndactyly
Webbed fingers or toes
0001159
5%-29% of people have these symptoms
Abnormal heart morphology
Abnormality of the heart
Abnormally shaped heart
Heart defect

[ more ]

0001627
Absence of pubertal development
0008197
Agenesis of corpus callosum
0001274
Anal stenosis
Narrowing of anal opening
0002025
Anteriorly placed anus
0001545
Ataxia
0001251
Bilateral choanal atresia/stenosis
0200138
Blepharophimosis
Narrow opening between the eyelids
0000581
Caudal appendage
Human tail
0002825
Cerebellar vermis hypoplasia
0001320
Dysplastic corpus callosum
0006989
Epicanthus
Eye folds
Prominent eye folds

[ more ]

0000286
Gray matter heterotopia
0002282
Hypertelorism
Wide-set eyes
Widely spaced eyes

[ more ]

0000316
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Hypoplasia of the maxilla
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion

[ more ]

0000327
Hypospadias
0000047
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation

[ more ]

0010864
Irregular dentition
Irregular teeth
0040079
Lymphedema
Swelling caused by excess lymph fluid under skin
0001004
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Narrow mouth
Small mouth
0000160
Pulmonic stenosis
Narrowing of pulmonic valve
0001642
Self-injurious behavior
Self-injurious behaviour
0100716
Short stature
Decreased body height
Small stature

[ more ]

0004322
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

0001762
Tracheomalacia
Floppy windpipe
0002779
Ventriculomegaly
0002119
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge

[ more ]

0000431

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) lists the subtypes and associated genes for Cerebro-facio-articular syndrome in a table called Phenotypic Series. Each entry in OMIM includes 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 Cerebro-facio-articular syndrome. Click on the link to view a sample search on this topic.

References

  1. Verheij E, Thomeer HG, Pameijer FA, Topsakal V. Middle ear abnormalities in Van Maldergem syndrome. Am J Med Genet A. January 2017; 173(1):239-244.
  2. Mansour S, Swinkels M, Terhal PA, Wilson LC, Rich P, Van Maldergem L, Zwijnenburg PJ, Hall CM, Robertson SP, Newbury-Ecob R. Van Maldergem syndrome: further characterisation and evidence for neuronal migration abnormalities and autosomal recessive inheritance. Eur J Hum Genet. October 2012; 20(10):1024-1031.