Question 1

What is Delpire-McNeill syndrome?

Accepted Answer

Delpire-McNeill syndrome is a neurodevelopmental disorder caused by a mutation in the SLC12A2 gene. People with this condition often have challenges in overall development and learning. The condition is marked by delays in speech and motor skills, and difficulties with balance and coordination.

In addition to developmental delays and mild to moderate intellectual disability, individuals may experience hearing loss and autistic features. Some may also have additional features such as heart defects, issues with the esophagus, hip problems, difficulties with swallowing, and certain brain abnormalities.

Question 2

What are the symptoms of Delpire-McNeill syndrome?

Accepted Answer

Common symptoms include global developmental delay, mild to moderate intellectual disability, delayed or absent speech, and low muscle tone which may lead to delayed or absent walking. Bilateral sensorineural deafness and autistic features are also noted. Variable features can include heart defects like ventricular septal defect, tracheoesophageal fistula, hip dislocation, swallowing difficulties that might require tube feeding, and brain anomalies.

Question 3

What causes Delpire-McNeill syndrome?

Accepted Answer

This condition is caused by a mutation in the SLC12A2 gene. As a genetic disorder, it primarily affects the development of the brain and muscles, leading to the symptoms observed in affected individuals. Associated genes include SLC12A2.

Question 4

How is Delpire-McNeill syndrome inherited?

Accepted Answer

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

Question 5

How is Delpire-McNeill syndrome diagnosed?

Accepted Answer

Information about diagnosis is currently limited for this condition.

Question 6

Are there treatments for Delpire-McNeill syndrome?

Accepted Answer

Information about treatment is currently limited for this condition.

Question 7

What complications can arise from Delpire-McNeill syndrome?

Accepted Answer

Delpire-McNeill syndrome can lead to several complications, including hearing loss and heart defects. Some individuals may also face issues with swallowing, which could require tube feeding. Additionally, problems with balance and coordination can affect daily activities and mobility.

Question 8

How does Delpire-McNeill syndrome affect daily life and development?

Accepted Answer

Living with Delpire-McNeill syndrome often means facing challenges in speech and motor skills. Children may need extra support in learning and may benefit from therapies to help with balance and coordination. Families may also need to adapt daily routines to accommodate any swallowing difficulties or other health issues.

Question 9

What is the life expectancy for someone with Delpire-McNeill syndrome?

Accepted Answer

Currently, there is limited information about the life expectancy of individuals with Delpire-McNeill syndrome. The condition can vary widely in its effects, and some complications, like heart defects, may impact overall health. Ongoing medical care and support can help manage symptoms and improve quality of life.

Question 10

What specialists should be involved in the care of someone with Delpire-McNeill syndrome?

Accepted Answer

Individuals with Delpire-McNeill syndrome may benefit from a team of specialists. This can include pediatricians, neurologists, speech therapists, and physical therapists. Each specialist can help address specific challenges related to development, communication, and mobility.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Difficulty swallowing (dysphagia), Absent speech, Delayed speech and language development

Research Type	Count	% of Total
Research summaries	87	67%

Kisho

Delpire-McNeill syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Explore clinical features

Recent Publications

Delpire-McNeill syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

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 Delpire-McNeill syndrome?

What are the symptoms of Delpire-McNeill syndrome?

What causes Delpire-McNeill syndrome?

How is Delpire-McNeill syndrome inherited?

How is Delpire-McNeill syndrome diagnosed?

Are there treatments for Delpire-McNeill syndrome?

What complications can arise from Delpire-McNeill syndrome?

How does Delpire-McNeill syndrome affect daily life and development?

What is the life expectancy for someone with Delpire-McNeill syndrome?

What specialists should be involved in the care of someone with Delpire-McNeill syndrome?

Explore clinical features

Recent Publications