How is Beare-Stevenson cutis gyrata syndrome inherited?

Beare-Stevenson cutis gyrata syndrome follows an autosomal dominant inheritance pattern. This means inheriting just one copy of the altered gene from either parent can cause the condition.

How rare is Beare-Stevenson cutis gyrata syndrome?

Beare-Stevenson cutis gyrata syndrome is classified as very rare. The estimated prevalence is approximately <1 in 1,000,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is Beare-Stevenson cutis gyrata syndrome diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Beare-Stevenson cutis gyrata syndrome?

Information about treatment is currently limited for this condition.

What are the potential complications of Beare-Stevenson cutis gyrata syndrome?

Beare-Stevenson cutis gyrata syndrome can lead to serious complications, especially in infancy. There is an increased risk of sudden death during the first year of life for some individuals. Additionally, those who survive may face significant developmental delays and challenges with intellectual functioning, requiring ongoing medical care.

How does Beare-Stevenson cutis gyrata syndrome affect daily life?

Daily life for someone with Beare-Stevenson cutis gyrata syndrome can be challenging due to various symptoms. Breathing difficulties may arise from narrow air passages, and hearing problems can affect communication. The presence of skin changes and other physical features may also impact self-esteem and social interactions.

What is the prognosis for individuals with Beare-Stevenson cutis gyrata syndrome?

The prognosis for individuals with Beare-Stevenson cutis gyrata syndrome can be serious. There is a higher risk of sudden death in the first year of life, and for those who survive, they often experience developmental delays and intellectual challenges. This means that careful medical monitoring is essential throughout their lives.

Are there specific specialists that should be involved in the care of someone with Beare-Stevenson cutis gyrata syndrome?

Yes, individuals with Beare-Stevenson cutis gyrata syndrome may benefit from a team of specialists. This can include geneticists for understanding the genetic aspects, pediatricians for overall health monitoring, and specialists in developmental medicine to address growth and learning challenges. An ear, nose, and throat (ENT) specialist may also be needed for airway and hearing issues.

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Beare-Stevenson cutis gyrata syndrome (BSTVS) - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Palmoplantar cutis laxa, Skin tags, Hypoplastic fingernail, and Overlapping toe and others; and very common findings: Acanthosis nigricans, Downslanted palpebral fissures, Choanal atresia, and Preauricular skin furrow and others. 74 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	10	Palmoplantar cutis laxa, Skin tags, Preauricular skin furrow
Head and neck	5	Narrow palate, High palate, Craniosynostosis
Brain and nerves	4	Hydrocephalus, Global developmental delay, Enlarged brain ventricles (ventriculomegaly)
Eyes	4	Damage to the optic nerve (optic atrophy), Ptosis, Abnormality of the eye
Arms and legs	2	Hypoplastic fingernail, Overlapping toe
Muscles	1	Damage to the optic nerve (optic atrophy)
Digestive system	1	Feeding difficulties in infancy
Lungs and breathing	1	Respiratory distress
Heart and blood vessels	1	Hypertension
Ears	1	Hearing abnormality
Bones and joints	1	Hypoplasia of the zygomatic bone

GeneReviews

Clinical Guidance

Apert syndrome shows substantial overlap with the clinical characteristics seen in other FGFR2-associated craniosynostosis syndromes (e.g., craniosynostosis, midface retrusion, vertebral fusions). In most individuals, Apert syndrome can be readily distinguished from other syndromic craniosynostosis syndromes (e.g., Crouzon, Pfeiffer, Jackson-Weiss, Beare-Stevenson) at or before birth due to the presence of syndactyly. However, several other important distinguishing features have implications for surveillance and medical management . Craniosynostosis is a near-universal finding in individuals with Apert syndrome, though some affected individuals with other typical manifestations (e.g., midface retrusion and syndactyly) without craniosynostosis have been reported.

Source: GeneReviews — "Apert Syndrome"

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Consensus clinical diagnostic criteria for Apert syndrome have not been published.

Suggestive Findings

Apert syndrome should be suspected in individuals with the following clinical features.

Head

Multisuture craniosynostosis, most commonly involving bilateral coronal sutures with variable involvement of the remaining cranial sutures
Midface retrusion with a greater degree of vertical impaction than Crouzon syndrome (See FGFR-Related Craniosynostosis Syndromes.)
Prominent eyes with downslanting palpebral fissures
Relative prognathism with malocclusion

Airway. Multilevel airway obstruction

Limbs/skeleton

Source: GeneReviews — "Apert Syndrome"

GeneReviews

Differential Diagnosis

Most children with multisuture synostosis will have a syndromic form of craniosynostosis. The presence of specific craniofacial characteristics and hand and foot anomalies allow for the clinical diagnosis of Apert syndrome in most cases. Establishing an accurate diagnosis has important implications for screening, surveillance, management, and counseling (see and ). Select syndromes to consider in the differential diagnosis of Apert syndrome include the allelic disorders listed (FGFR2-related Antley-Bixler syndrome, Beare-Stevenson syndrome, Crouzon syndrome, Jackson-Weiss syndrome, Pfeiffer syndrome types 1, 2, and 3, FGFR2-related Saethre-Chotzen syndrome) and the select syndromes listed in . Table 3. Nonallelic Craniosynostosis Syndromes to Consider in the Differential Diagnosis of Apert Syndrome

Gene	Disorder	MOI	Features of the Differential Diagnosis Disorder
POR	POR-related Antley-Bixler syndrome1

Genetic testing for FGFR2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Beare-Stevenson cutis gyrata syndrome has been reported in the published literature.

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Beare-Stevenson cutis gyrata syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Apert syndrome, the evaluations summarized (if not already performed) are recommended. Table 4. Recommended Evaluations Following Initial Diagnosis in Individuals with Apert Syndrome

System/Concern	Evaluation	Comment
Craniofacial	Physical exam to identify cleft palate, ear anomalies, face shape, fontanelles, suture ridging, skull base symmetry	Assessing degree of maxillary hypoplasia is important for determining risk for airway compromise.
Eyes	Consultation w/pediatric ophthalmologist1	Incl assessment of eye surfaces, eye alignment, optic nerves
Ears	Ear-specific hearing eval	—
Respiratory	Assess for airway symptoms (snoring, stridor, apnea, respiratory distress).	Consider consultation w/otolaryngologist sleep medicine
Cardiovascular	Cardiac assessment	Echocardiogram if a murmur is present or if clinical cardiac concerns
Gastrointestinal	Upper GI w/small bowel follow-through if symptomatic or during preoperative eval for gastrostomy tube	To evaluate for intestinal malrotation
Genitourinary	Assessment for cryptorchidism in males	Referral to urologist Renal ultrasound
Musculoskeletal	CT scan of head/skull/sutures	CT w/3D reconstruction will delineate degree of suture involvement help w/preoperative planning. Cervical spine imaging to evaluate for vertebral fusions instability
Neurologic	CT scan or MRI of the head to evaluate for hydrocephalus CNS anomalies	If concern for hydrocephalus or Chiari malformation, consider brain MRI.
Other	Assessment for developmental disabilities	Consider referral to a neurodevelopmental specialist/ early intervention services Consultation w/clinical geneticist genetic counselor
Treatment of Manifestations in Individuals with Apert Syndrome Manifestation/Concern	Treatment	Considerations/Other
Craniosynostosis	In general, multisuture craniosynostosis should be surgically repaired in 1st yr of life.1,2,3,4	Specific timing guided by child's anatomy, risk for intracranial pressure, respiratory status5 Midface
retrusion	Jaw surgery to advance the midface	Typically in childhood or adolescence6,7
Cleft palate	Palate surgery is typically performed prior to development of pressure consonants.	To improve speech production intelligibility Feeding/
swallowing difficulties8	Feeding therapy is helpful to evaluate swallowing safety support eating by mouth.	—
Dental	Pediatric dental care eval by craniofacial orthodontist as part of coordinated craniofacial team care	Orthodontist plays an important role in determining type timing of orofacial interventions.
Strabismus	Strabismus should be treated by ophthalmologist w/expertise in eye alignment in children w/craniosynostosis.	Amblyopia is a major cause of visual impairment.
Hearing loss	Placement of tympanostomy tubes	If chronic middle ear effusions are present Hearing aids, bone conduction sound processors, tympanoplasties, aural atresia/stenosis repair
obstruction	Awareness of potential airway compromise proactive airway mgmt are crucial in infants children.	Specific airway mgmt in Apert syndrome will depend on level severity of obstruction. Temporizing measures to bypass airway obstruction:; Placement of nasal stents; Endotracheal intubation

Source: GeneReviews — "Apert Syndrome"

GeneReviews

Clinical Guidance

Contact sports and activities that involve neck hyperflexion or extension should be avoided, unless the individual has had the cervical spine assessed and cleared. Avoid factors that potentiate hearing loss (ototoxic medications, overly loud stimuli). Use of CPAP/BiPAP for long-term treatment of sleep apnea should be avoided when possible because pressure on the midface will exacerbate midfacial retrusion.

Source: GeneReviews — "Apert Syndrome"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Apert Syndrome"

Clinical Trials

View trials for Beare-Stevenson cutis gyrata syndrome

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Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

A craniofacial team made up of the appropriate specialties allows for proper planning and coordination so that the affected individual may receive the best possible care . Ideally, the composition of the multidisciplinary team caring for a child with Apert syndrome should include the following specialists: • Audiologist • Dentist • Dermatologist • Feeding specialist • Geneticist • Neurodevelopmental and behavioral pediatrician • Neurosurgeon • Nurse • Nutritionist • Ophthalmologist • Oral surgeon • Orthodontist • Orthopedist (hand and foot surgery) • Otolaryngologist • Pediatrician • Plastic surgeon • Psychologist • Pulmonologist/ sleep medicine • Social worker • Speech pathologist • Spine surgeon Table 7. Recommended Surveillance for Individuals with Apert Syndrome

System/Concern	Evaluation	Frequency
Oropharynx	Assessment for velopharyngeal insufficiency1,2	After emergence of language Speech assessment to monitor for speech disorders
Dental	Assessments w/primary dentist to caries support dental health3	Every 6 mos
Eyes	Ophthalmologic eval to incl vision, eye alignment, dilated fundoscopy to assess optic nerves4	Annually
Ears	Audiologic otologic assessements	At least annually
Musculoskeletal	Monitor for development of scoliosis by clinical exam w/surveillance spine radiographs if recommended by spine surgeon.	Annually in childhood adolescence

Source: GeneReviews — "Apert Syndrome"

Phenotype severity distribution: 26 always present features, 26 very common features, 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:123790

Orphanet

European rare disease database

Orphanet:1555

GARD

Genetic and Rare Diseases Info Center

GARD:332

Questions for Your Care Team

→Should I pursue genetic testing for FGFR2, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Beare-Stevenson cutis gyrata syndrome

Beare-Stevenson cutis gyrata syndrome is a severe condition where the bones of the skull fuse too early (a condition known as craniosynostosis). Over half of the cases report a cloverleaf-shaped skull. People with this condition may have unusual skin patterns such as deep ridges called cutis gyrata, and corduroy-like linear lines. They may also show skin changes called acanthosis nigricans and have extra skin tags. In addition, the air passages near the back of the nose might be narrow or even blocked (choanal stenosis or atresia). There are other physical signs that may occur, including facial features that look similar to those seen in Crouzon disease, various ear abnormalities (such as conductive hearing loss and narrow ear canals), and differences in the development of the genitorurinary system. Affected individuals often have a prominent umbilical stump and may show anomalies in the placement or development of other body parts.

People with this syndrome may experience a range of symptoms. Common features include premature closure of the skull bones, which can lead to an abnormal skull shape such as a cloverleaf skull. They may also have wrinkled or ridged skin (cutis gyrata), areas of thickened skin (acanthosis nigricans), and extra skin tags. In some cases, ear problems that affect hearing and other facial differences are noted. Additionally, there can be issues with the airways, which may lead to breathing difficulties.

Beare-Stevenson cutis gyrata syndrome is linked to changes in the FGFR2 gene. This gene plays an important role in bone development and skin formation. The mutation in the FGFR2 gene leads to the characteristic symptoms seen with this condition. Genetic factors are a key feature, as the change in the gene disrupts normal development. Associated genes include FGFR2.

Latest News & Developments

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AI-curated news mentioning Beare-Stevenson cutis gyrata syndrome

Updated Jul 21, 2026

Gene & Cell Therapy•

Pipeline & Approvals

•2 months ago(Jul 21)

FDA Expands CRISPR Gene Therapy Casgevy to Children as Young as 2 with Sickle Cell Disease

FDA approved Casgevy CRISPR gene therapy for children as young as 2 with sickle cell disease on July 1, 2026. Here's what families need to know about this milestone. Approximately 5,500 additional American children are now eligible for this established one-time therapy, according to Vertex Pharmaceuticals, Casgevy's developer. Casgevy also covers transfusion-dependent beta-thalassemia in this new age indication. Sickle cell disease is a lifelong inherited blood disorder that warps red blood cells into stiff, crescent shapes that can block blood flow, starving organs and tissues of oxygen. The world's first CRISPR-based gene therapy has been approved for children as young as two years old, opening the possibility of a single, potentially curative treatment to thousands of American children with sickle cell disease before years of organ damage can narrow what medicine can do for them. Families with children aged 2 and older who have sickle cell disease should speak with their pediatric hematologist about whether Casgevy is appropriate to consider at this stage of their child's disease. Ask specifically which authorized treatment centers perform Casgevy in your region. Treatment is available only at specialized sites, and geographic access remains limited. Contact your child's insurance plan or Medicaid office to ask about coverage. Medicaid coverage for gene therapies varies by state, and some states have developed outcomes-based payment models for high-cost therapies. "With today's decision, pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases," said Karim Mikhail, acting director of the Office of Therapeutic Products at the FDA's Center for Biologics Evaluation and Research, according to the FDA press announcement. Casgevy is a non-viral, ex vivo CRISPR/Cas9 gene-edited cell therapy.

Gene & Cell Therapy•

Science & Discovery

•2 months ago(Jul 8)

Gene therapy for children with sickle cell disease approved by FDA

A new treatment for children aged 2 or older with sickle cell disease has been approved by the U.S. Food & Drug Administration. In a press release on Wednesday, the FDA announced it had approved Casgevy, the first gene therapy for children with sickle cell disease. (NewsNation) — A new treatment for children aged 2 or older with sickle cell disease has been approved by the Food & Drug Administration (FDA). In a Wednesday news release, the FDA announced it had approved Casgevy, the first gene therapy for children with the disease. “Casgevy is a gene therapy consisting of the patient’s own (autologous) hematopoietic (blood) stem cells, administered as a one-time single dose for intravenous infusion,” the release noted. “Pediatric patients as young as 2 years of age can now access a critical additional treatment option to treat these debilitating, life-threatening diseases,” Karim Mikhail, the acting director of the Center for Biologics Evaluation and Research, wrote. “These disorders carry a heavy burden for children and their families, affecting growth, development, and long-term health in profound ways,” Megha Kaushal, acting deputy director of the Office of Therapeutic Products in CBER, said in the release.

View all news for Beare-Stevenson cutis gyrata syndrome

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Beare-Stevenson cutis gyrata syndrome

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Latest News & Developments

FDA Expands CRISPR Gene Therapy Casgevy to Children as Young as 2 with Sickle Cell Disease

Gene therapy for children with sickle cell disease approved by FDA

Beare-Stevenson cutis gyrata syndrome

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Beare-Stevenson cutis gyrata syndrome?

What are the symptoms of Beare-Stevenson cutis gyrata syndrome?

What causes Beare-Stevenson cutis gyrata syndrome?

How is Beare-Stevenson cutis gyrata syndrome inherited?

How rare is Beare-Stevenson cutis gyrata syndrome?

How is Beare-Stevenson cutis gyrata syndrome diagnosed?

Are there treatments for Beare-Stevenson cutis gyrata syndrome?

What are the potential complications of Beare-Stevenson cutis gyrata syndrome?

How does Beare-Stevenson cutis gyrata syndrome affect daily life?

What is the prognosis for individuals with Beare-Stevenson cutis gyrata syndrome?

Are there specific specialists that should be involved in the care of someone with Beare-Stevenson cutis gyrata syndrome?

Latest News & Developments

FDA Expands CRISPR Gene Therapy Casgevy to Children as Young as 2 with Sickle Cell Disease

Gene therapy for children with sickle cell disease approved by FDA