How is Ehlers-Danlos syndrome, kyphoscoliotic type, 2 inherited?

Ehlers-Danlos syndrome, kyphoscoliotic type, 2 follows an autosomal recessive inheritance pattern. This means a child must inherit a copy of the altered gene from both parents to develop the condition. Parents who each carry one copy typically do not show symptoms.

How rare is Ehlers-Danlos syndrome, kyphoscoliotic type, 2?

Ehlers-Danlos syndrome, kyphoscoliotic type, 2 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 Ehlers-Danlos syndrome, kyphoscoliotic type, 2 diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Ehlers-Danlos syndrome, kyphoscoliotic type, 2?

Information about treatment is currently limited for this condition.

What complications can arise from Ehlers-Danlos syndrome, kyphoscoliotic type, 2?

Ehlers-Danlos syndrome, kyphoscoliotic type, 2 can lead to complications such as severe low muscle tone and early-onset kyphoscoliosis. These issues can affect mobility and posture. Additionally, the very flexible joints can dislocate easily, which may cause pain and require careful management.

How does Ehlers-Danlos syndrome, kyphoscoliotic type, 2 affect daily life?

Living with Ehlers-Danlos syndrome, kyphoscoliotic type, 2 can be challenging due to issues like low muscle tone and joint dislocations. People may need to take extra care when moving or participating in activities to avoid injuries. Regular check-ups with healthcare providers can help manage symptoms and improve quality of life.

What is the life expectancy for someone with Ehlers-Danlos syndrome, kyphoscoliotic type, 2?

Information about life expectancy for individuals with Ehlers-Danlos syndrome, kyphoscoliotic type, 2 is currently limited. The condition can lead to various complications, but specific data on life expectancy is not available. It's important for families to work closely with healthcare providers to monitor health and manage symptoms.

What specialists should we see for Ehlers-Danlos syndrome, kyphoscoliotic type, 2?

For Ehlers-Danlos syndrome, kyphoscoliotic type, 2, it is helpful to see specialists like geneticists, orthopedic doctors, and physical therapists. These professionals can provide support for managing symptoms and improving mobility. A team approach can help address the various aspects of the condition.

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Ehlers-Danlos syndrome, kyphoscoliotic type, 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Epicanthus, Poor head control, Sloping forehead, and Myopathy and others; and very common findings: Hyperextensible skin and High-frequency sensorineural hearing impairment. 44 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	6	Myopathy, Low muscle tone (hypotonia), Type 1 muscle fiber predominance
Bones and joints	5	Large joint hypermobilty, Small joint hypermobilty, Mild bone density loss (osteopenia)
Skin	4	Redundant umbilical skin, Soft skin, Follicular hyperkeratosis
Ears	3	Mixed hearing impairment, High-frequency sensorineural hearing impairment, Conductive hearing impairment
Heart and blood vessels	2	Aortic rupture, Mitral regurgitation
Pregnancy and birth	2	Decreased fetal movement, Neonatal hypotonia
Head and neck	1	Cleft soft palate
Brain and nerves	1	Waddling gait
Digestive system	1	Feeding difficulties

Age of onset: newborn period, infancy.

GeneReviews

Clinical Guidance

FKBP14 kyphoscoliotic Ehlers-Danlos syndrome (FKBP14-kEDS) is characterized by congenital muscle hypotonia and weakness that typically improves during childhood, progressive scoliosis, joint hypermobility, hyperelastic skin, gross motor developmental delay, myopathy, and hearing impairment . Occasional features underlying systemic connective tissue involvement include aortic rupture and arterial dissection, subdural hygroma (potentially due to subdural bleeding or spontaneous intracranial hypotension), insufficiency of cardiac valves, bluish sclerae, bladder diverticula, inguinal or umbilical herniae, and premature rupture of membranes during pregnancy . A range of clinical severity is observed in individuals with FKBP14-kEDS for each of the systems discussed in this section . Prenatal.

Source: GeneReviews — "FKBP14 Kyphoscoliotic Ehlers-Danlos 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

Formal clinical diagnostic criteria for FKBP14 kyphoscoliotic Ehlers-Danlos syndrome (FKBP14-kEDS) were established in the 2017 revised Ehlers-Danlos syndrome (EDS) nosology ; see .

Suggestive Findings

FKBP14 kyphoscoliotic Ehlers-Danlos syndrome (FKBP14-kEDS) should be suspected in individuals with kyphoscoliosis, severe congenital muscle hypotonia, and joint hypermobility Major and minor clinical features of FKBP14-kEDS have been outlined as follows (adapted from and ).

Major clinical features

Congenital muscular hypotonia
Congenital or early-onset kyphoscoliosis
Generalized joint hypermobility

Gene-specific minor features

Early-onset sensorineural, conductive, or mixed hearing impairment (See .)
Muscle atrophy
Follicular hyperkeratosis
Bladder diverticula

Other suggestive findings

Source: GeneReviews — "FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome"

GeneReviews

Differential Diagnosis

Table 2. Disorders to Consider in the Differential Diagnosis of FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome

Differential Diagnosis Disorder	Gene(s)	MOI	Clinical Features of Differential Diagnosis Disorder
PLOD1	AR	Congenital muscular hypotonia; Congenital/early-onset kyphoscoliosis; Generalized joint hypermobility	Absence of hearing impairment; ratio of urinary pyridinolines Musculocontractural EDS
DSE	AR

Genetic testing for FKBP14 is available. Testing is considered confirmatory for diagnosis.

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 Ehlers-Danlos syndrome, kyphoscoliotic type, 2. 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 FKBP14 kyphoscoliotic Ehlers-Danlos syndrome (FKBP14-kEDS), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with FKBP14-kEDS

System/Concern	Evaluation	Comment
Eyes	Ophthalmologic eval	To evaluate for refractive errors
Ears	Audiology eval	A repeat hearing eval is recommended even if patient had normal newborn hearing screen.
Cardiovascular	Echocardiography	To incl measurement of aortic root size assessment of heart valves Measurement of blood pressure
Craniofacial	Assessment of palate for submucous or frank cleft	Referral to craniofacial clinic if palatal anomalies are suspected Miscellaneous/
Other	Developmental assessment	To incl motor, speech-language eval, general cognitive, vocational skills Consultation w/clinical geneticist /or genetic counselor

Source: GeneReviews — "FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome"

GeneReviews

Clinical Guidance

Avoid the following:

For children with severe joint hypermobility, sports that place stress on the joints
High blood pressure
For individuals with aortic aneurysm, contact sports

Source: GeneReviews — "FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome"

Clinical Trials

View trials for Ehlers-Danlos syndrome, kyphoscoliotic type, 2

Explore Trials

Prognosis

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

GeneReviews

Surveillance Guidelines

Standardized medical surveillance guidelines for individuals with FKBP14-kEDS have not been published. Table 5. Recommended Surveillance for Individuals with FKBP14-kEDS

System/Concern	Evaluation	Frequency
Musculoskeletal	Evals by orthopedic physician specialist in rehab medicine for mgmt of kyphoscoliosis, contractures, foot deformities	As clinically indicated but at least annually DXA scan
Eyes	Routine ophthalmologic eval	Every 2-3 yrs Ears
Cardiovascular	Blood pressure measurement1	At each visit; Echocardiography w/consideration of cardiac MRI; Vascular ultrasonography to evaluate abdominal peripheral arteries veins
Neurodevelopment	Assessment of developmental progress	At each visit until adolescence DXA = dual-energy x-ray absorptiometry 1. Maintenance of blood pressure in the normal range for age is recommended to reduce the risk of arterial rupture.

Source: GeneReviews — "FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome"

Phenotype severity distribution: 23 always present features, 2 very common features, 6 common features.

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

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614557

Orphanet

European rare disease database

Orphanet:300179

GARD

Genetic and Rare Diseases Info Center

GARD:17361

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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 Ehlers-Danlos syndrome, kyphoscoliotic type, 2

Ehlers-Danlos syndrome, kyphoscoliotic type, 2 is a rare connective tissue disorder that affects the muscles and joints. People with this condition are often born with very low muscle tone and develop a curved spine (kyphoscoliosis) at an early age. In addition to the spinal issues, individuals may experience very flexible joints that can dislocate easily and hearing problems known as sensorineural hearing impairment. These features help define the condition and distinguish it from other types of Ehlers-Danlos syndrome.

Common symptoms include severe low muscle tone at birth, early-onset kyphoscoliosis (a combined curvature of the spine), and very flexible joints that can lead to recurrent dislocations. People with this condition also may experience sensorineural hearing impairment, which affects the inner ear.

Ehlers-Danlos syndrome, kyphoscoliotic type, 2 is caused by changes in the FKBP14 gene. This genetic alteration is inherited and affects how connective tissue develops, leading to the symptoms seen in the condition. Associated genes include FKBP14.

Kisho

Ehlers-Danlos syndrome, kyphoscoliotic type, 2

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

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

Ehlers-Danlos syndrome, kyphoscoliotic type, 2

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Clinical Guidance

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 Ehlers-Danlos syndrome, kyphoscoliotic type, 2?

What are the symptoms of Ehlers-Danlos syndrome, kyphoscoliotic type, 2?

What causes Ehlers-Danlos syndrome, kyphoscoliotic type, 2?

How is Ehlers-Danlos syndrome, kyphoscoliotic type, 2 inherited?

How rare is Ehlers-Danlos syndrome, kyphoscoliotic type, 2?

How is Ehlers-Danlos syndrome, kyphoscoliotic type, 2 diagnosed?

Are there treatments for Ehlers-Danlos syndrome, kyphoscoliotic type, 2?

What complications can arise from Ehlers-Danlos syndrome, kyphoscoliotic type, 2?

How does Ehlers-Danlos syndrome, kyphoscoliotic type, 2 affect daily life?

What is the life expectancy for someone with Ehlers-Danlos syndrome, kyphoscoliotic type, 2?

What specialists should we see for Ehlers-Danlos syndrome, kyphoscoliotic type, 2?