Cerebro-facio-articular syndrome

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5456

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Disease Profile

<1 / 1 000 000

US Estimated

Europe Estimated

Age of onset

Infancy

ICD-10

-

Inheritance

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.

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.

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

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.

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.

Not applicable

Other names (AKA)

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

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

Do you have updated information on this disease? We want to hear from you.

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

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.
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.

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Infancy

-

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

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.

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.

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

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.

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.

Not applicable

Other names (AKA)

Categories

Summary

Symptoms

Learn more

In-Depth Information

References

Rare Pulmonology News

Rare Pulmonology News

Infancy

-

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

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.

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.

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

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.

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.

Not applicable

Other names (AKA)

Categories

Summary

Symptoms

Learn more

In-Depth Information

References

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.

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