How is Hartsfield-Bixler-Demyer syndrome inherited?

Hartsfield-Bixler-Demyer 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 Hartsfield-Bixler-Demyer syndrome?

Hartsfield-Bixler-Demyer 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 Hartsfield-Bixler-Demyer syndrome diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Hartsfield-Bixler-Demyer syndrome?

Information about treatment is currently limited for this condition.

What complications can arise from Hartsfield-Bixler-Demyer syndrome?

Information about complications from Hartsfield-Bixler-Demyer syndrome is currently limited. Families may want to keep in close contact with healthcare providers to monitor any changes or issues that could arise as the child grows.

How might Hartsfield-Bixler-Demyer syndrome affect daily life?

Details on how Hartsfield-Bixler-Demyer syndrome affects daily life are currently limited. However, families may need to adapt daily routines and activities to support their loved ones, depending on their specific symptoms and needs.

What is the life expectancy for someone with Hartsfield-Bixler-Demyer syndrome?

Information about life expectancy for individuals with Hartsfield-Bixler-Demyer syndrome is currently limited. It is important for families to discuss concerns about life expectancy with healthcare providers who can offer personalized insights based on the individual's health.

Are there any specialists recommended for Hartsfield-Bixler-Demyer syndrome?

Currently, there is limited information on specific specialists for Hartsfield-Bixler-Demyer syndrome. Families may benefit from consulting with geneticists or specialists in rare diseases to get the best care and support for their loved ones.

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Hartsfield-Bixler-Demyer syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Agenesis of corpus callosum, Global developmental delay, and Growth delay; and very common findings: Ectrodactyly. 28 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	5	Median cleft upper lip, Cleft palate, Craniosynostosis
Brain and nerves	2	Bilateral tonic-clonic seizure, Global developmental delay
Hormones	1	Diabetes insipidus
Bones and joints	1	Hypoplasia of the frontal bone
Muscles	1	Neonatal hypotonia
Pregnancy and birth	1	Neonatal hypotonia
Growth and development	1	Growth delay

GeneReviews

Clinical Guidance

FGFR1-related Hartsfield syndrome is characterized by findings of the holoprosencephaly (HPE) spectrum in combination with findings of the ectrodactyly spectrum. To date, 35 individuals with FGFR1-related Hartsfield syndrome have been identified [, , , , , , , , ]. The following description of the phenotypic features associated with this condition is based on these reports. HPE spectrum malformations include alobar, semilobar, or lobar holoprosencephaly. Other observed midline brain malformations include corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs and tracts, and vermian hypoplasia.

Source: GeneReviews — "FGFR1-Related Hartsfield Syndrome"

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 Hartsfield-Bixler-Demyer syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for FGFR1-related Hartsfield syndrome have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with FGFR1-related Hartsfield syndrome, 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 FGFR1-Related Hartsfield Syndrome

System/Concern	Evaluation	Comment
Neurologic	Brain MRI	Determine type of holoprosencephaly (alobar, semilobar, or lobar). Neurologic eval
Development	Developmental assessment incl evidence for spasticity	Incl motor, adaptive, cognitive, speech-language eval; Eval for early intervention / special education Gastrointestinal/
Feeding	Gastroenterology/ nutrition/ feeding team eval for evidence of problems that may result from cleft lip/palate /or oromotor dysfunction	Incl eval of aspiration risk nutritional status; Consider eval for gastrostomy tube placement in those w/dysphagia /or aspiration risk.
Cleft lip/palate	Referral to craniofacial team	—
Endocrine	Evaluate for evidence of endocrine deficiency (growth hormone deficiency, hypogonadotropic hypogonadism).

Source: GeneReviews — "FGFR1-Related Hartsfield 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 — "FGFR1-Related Hartsfield Syndrome"

Clinical Trials

View trials for Hartsfield-Bixler-Demyer syndrome

Explore Trials

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615465

Orphanet

European rare disease database

Orphanet:2117

GARD

Genetic and Rare Diseases Info Center

GARD:2725

Questions for Your Care Team

→Should I pursue genetic testing for FGFR1, 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 Hartsfield-Bixler-Demyer syndrome

Information about overview is currently limited for this condition.

Information about symptoms is currently limited for this condition.

Research has indicated a link with the FGFR1 gene in people with this condition. However, detailed understanding of the genetic causes and risk factors remains limited. Associated genes include FGFR1.

Kisho

Hartsfield-Bixler-Demyer syndrome

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Holoprosencephaly

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Feeding

Respiratory

Neurologic

Development

Behavioral

Musculoskeletal

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

Hartsfield-Bixler-Demyer syndrome

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Holoprosencephaly

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Feeding

Respiratory

Neurologic

Development

Behavioral

Musculoskeletal

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 Hartsfield-Bixler-Demyer syndrome?

What are the symptoms of Hartsfield-Bixler-Demyer syndrome?

What causes Hartsfield-Bixler-Demyer syndrome?

How is Hartsfield-Bixler-Demyer syndrome inherited?

How rare is Hartsfield-Bixler-Demyer syndrome?

How is Hartsfield-Bixler-Demyer syndrome diagnosed?

Are there treatments for Hartsfield-Bixler-Demyer syndrome?

What complications can arise from Hartsfield-Bixler-Demyer syndrome?

How might Hartsfield-Bixler-Demyer syndrome affect daily life?

What is the life expectancy for someone with Hartsfield-Bixler-Demyer syndrome?

Are there any specialists recommended for Hartsfield-Bixler-Demyer syndrome?