Question 1

What is Richieri Costa-Pereira syndrome?

Accepted Answer

Richieri Costa-Pereira syndrome is a rare condition that affects growth and development. People with this condition often have short stature, a characteristic facial sequence known as the Robin sequence (which includes a small jaw), and a cleft mandible. In addition, other features include hand anomalies (with issues on both sides of the hand, such as underdeveloped thumbs) and clubfoot. Some individuals also present with prominent low-set ears and a highly arched palate.

This syndrome has been described in several families, primarily from Brazil, with one reported case in a French patient. It is important to note that it is inherited in an autosomal recessive manner, meaning that both parents must carry an altered gene for a child to be affected. This genetic pattern, along with the identified association with the EIF4A3 gene, helps in understanding the condition.

Question 2

What are the symptoms of Richieri Costa-Pereira syndrome?

Accepted Answer

People with Richieri Costa-Pereira syndrome typically show a collection of physical features including short stature, a small lower jaw (cleft mandible), and a Robin sequence. They may also have hand anomalies, such as underdeveloped thumbs, and clubfoot. Additional observations include low-set ears and a highly arched palate.

Question 3

What causes Richieri Costa-Pereira syndrome?

Accepted Answer

Richieri Costa-Pereira syndrome is inherited in an autosomal recessive way, which means that a person needs to receive a copy of the altered gene from both parents. The condition has been linked to changes in the EIF4A3 gene. This genetic background helps explain why the syndrome tends to appear in families. Associated genes include EIF4A3.

Question 4

How is Richieri Costa-Pereira syndrome inherited?

Accepted Answer

Richieri Costa-Pereira syndrome 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.

Question 5

How rare is Richieri Costa-Pereira syndrome?

Accepted Answer

Richieri Costa-Pereira 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.

Question 6

How is Richieri Costa-Pereira syndrome diagnosed?

Accepted Answer

Information about diagnosis is currently limited for this condition.

Question 7

Are there treatments for Richieri Costa-Pereira syndrome?

Accepted Answer

Information about treatment is currently limited for this condition.

Question 8

What complications can arise from Richieri Costa-Pereira syndrome?

Accepted Answer

Richieri Costa-Pereira syndrome can lead to various complications due to its impact on growth and development. Individuals may experience challenges related to their short stature and physical features, such as difficulties with feeding or speech due to the Robin sequence. Hand anomalies and clubfoot can also affect mobility and daily activities, requiring careful management.

Question 9

How does Richieri Costa-Pereira syndrome affect daily life?

Accepted Answer

Daily life for someone with Richieri Costa-Pereira syndrome may involve special considerations due to their physical features and potential mobility issues. Activities like walking or playing may require support or adaptive tools, especially for those with clubfoot or hand anomalies. Families may need to work closely with healthcare providers to ensure that their loved ones receive appropriate care and support.

Question 10

What is the life expectancy for someone with Richieri Costa-Pereira syndrome?

Accepted Answer

Currently, there is limited information about the life expectancy of individuals with Richieri Costa-Pereira syndrome. Since the condition affects growth and development, it is important for families to monitor health closely and work with healthcare providers for ongoing care. Each individual's situation can vary, so personalized medical advice is essential.

Question 11

Are there specific specialists that should be involved in the care of someone with Richieri Costa-Pereira syndrome?

Accepted Answer

Yes, individuals with Richieri Costa-Pereira syndrome may benefit from a team of specialists to address their unique needs. Pediatricians, geneticists, and orthopedic specialists can provide important care and support. Additionally, speech therapists and occupational therapists may help with developmental challenges related to the condition.

Organ System	Phenotype Count	Example Features
Arms and legs	5	Radial deviation of the hand, Short phalanx of finger, Tibial deviation of toes
Head and neck	5	Agenesis of mandibular central incisor, High palate, Cleft palate
Brain and nerves	2	Delayed speech and language development, Global developmental delay
Growth and development	1	Short stature
Voice	1	Abnormality of the voice
Digestive system	1	Feeding difficulties

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Richieri Costa-Pereira syndrome

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

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

Richieri Costa-Pereira syndrome

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

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 Richieri Costa-Pereira syndrome?

What are the symptoms of Richieri Costa-Pereira syndrome?

What causes Richieri Costa-Pereira syndrome?

How is Richieri Costa-Pereira syndrome inherited?

How rare is Richieri Costa-Pereira syndrome?

How is Richieri Costa-Pereira syndrome diagnosed?

Are there treatments for Richieri Costa-Pereira syndrome?

What complications can arise from Richieri Costa-Pereira syndrome?

How does Richieri Costa-Pereira syndrome affect daily life?

What is the life expectancy for someone with Richieri Costa-Pereira syndrome?

Are there specific specialists that should be involved in the care of someone with Richieri Costa-Pereira syndrome?