Beare-Stevenson cutis gyrata syndrome

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Disease Profile

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Europe Estimated

Age of onset

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ICD-10

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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)

Cutis Gyrata syndrome of Beare and Stevenson; Beare stevenson syndrome; Cutis gyrata acanthosis nigricans craniosynostosis;

Summary

Beare-Stevenson cutis gyrata syndrome is a genetic condition characterized by skin abnormalities (cutis gyrata, which causes a furrowed and wrinkled appearance, and acanthosis nigricans) and the premature fusion of certain bones of the skull (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Beare-Stevenson cutis gyrata syndrome is caused by mutations in the FGFR2 gene. It is inherited in an autosomal dominant pattern, although all reported cases have resulted from new mutations in the gene and occurred in people with no history of the disorder in their family.^[1]

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 the pancreas		0001732
Acanthosis nigricans	Darkened and thickened skin	0000956
Aplasia/Hypoplasia of the earlobes	Absent/small ear lobes Absent/underdeveloped ear lobes [ more ]	0009906
Choanal atresia	Blockage of the rear opening of the nasal cavity Obstruction of the rear opening of the nasal cavity [ more ]	0000453
Cloverleaf skull		0002676
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Dolichocephaly	Long, narrow head Tall and narrow skull [ more ]	0000268
Downslanted palpebral fissures	Downward slanting of the opening between the eyelids	0000494
Hearing abnormality	Abnormal hearing	0000364
Hypoplasia of the zygomatic bone	Cheekbone underdevelopment Decreased size of cheekbone Underdevelopment of cheekbone [ more ]	0010669
Macrotia	Large ears	0000400
Malar flattening	Zygomatic flattening	0000272
Melanocytic nevus	Beauty mark	0000995
Midface retrusion	Decreased size of midface Midface deficiency Underdevelopment of midface [ more ]	0011800
Palmoplantar cutis gyrata		0007469
Palmoplantar keratoderma	Thickening of palms and soles	0000982
Preauricular skin furrow	Preauricular skin groove Skin groove in front of the ear [ more ]	0004450
Proptosis	Bulging eye Eyeballs bulging out Prominent eyes Prominent globes Protruding eyes [ more ]	0000520
Ptosis	Drooping upper eyelid	0000508
Reduced number of teeth	Decreased tooth count	0009804
Respiratory distress	Breathing difficulties Difficulty breathing [ more ]	0002098
Subcutaneous nodule	Firm lump under the skin Growth of abnormal tissue under the skin [ more ]	0001482
Turricephaly	Tall shaped skull Tower skull shape [ more ]	0000262
Visceral angiomatosis		0100761
30%-79% of people have these symptoms
Bifid scrotum	Cleft of scrotum	0000048
Craniosynostosis		0001363
Narrow palate	Narrow roof of mouth	0000189
Prominent scrotal raphe		0003246
5%-29% of people have these symptoms
Abnormality of the nail		0001597
Abnormality of vision	Abnormality of sight Vision issue [ more ]	0000504
Anteriorly placed anus		0001545
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Cleft palate	Cleft roof of mouth	0000175
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Hydrocephalus	Too much cerebrospinal fluid in the brain	0000238
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Hypertension		0000822
Narrow mouth	Small mouth	0000160
Optic atrophy		0000648
Thickened helices		0000391
Umbilical hernia		0001537
Percent of people who have these symptoms is not available through HPO
Agenesis of corpus callosum		0001274
Autosomal dominant inheritance		0000006
Choanal stenosis	Narrowing of the rear opening of the nasal cavity	0000452
Global developmental delay		0001263
Limited elbow extension	Decreased elbow extension Elbow limited extension Limitation of elbow extension Limited extension at elbows Limited forearm extension Restricted elbow extension [ more ]	0001377
Low-set, posteriorly rotated ears		0000368
Palmoplantar cutis laxa	Excessive wrinkled skin of palms and soles Increased wrinkles of palms and soles Wrinkled palms and soles Wrinkled skin of hands and feet [ more ]	0007517
Skin tags		0010609
Small nail	Small nails	0001792

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Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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.

Where to Start

MedlinePlus Genetics contains information on Beare-Stevenson cutis gyrata syndrome. This website is maintained by the National Library of Medicine.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
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 Beare-Stevenson cutis gyrata syndrome. Click on the link to view a sample search on this topic.

References

Beare-Stevenson cutis gyrata syndrome. Genetics Home Reference (GHR). February 2008; https://ghr.nlm.nih.gov/condition/beare-stevenson-cutis-gyrata-syndrome. Accessed 3/26/2015.

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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

Diagnosis

Testing Resources

Learn more

Where to Start

In-Depth Information

References

Rare Primary Care News

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#N/A

#N/A

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

Diagnosis

Testing Resources

Learn more

Where to Start

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.