Question 1

What is Robin sequence-oligodactyly syndrome?

Accepted Answer

Robin sequence-oligodactyly syndrome is a rare genetic condition that occurs during embryogenesis. It is characterized by features of Robin sequence such as a very small lower jaw (severe micrognathia), tongue that is positioned further back than normal (retroglossia), and a U-shaped cleft in the back of the palate. These facial challenges can also be accompanied by a narrow face and narrow lower dental arch.

In addition to the facial features, this syndrome includes limb differences known as pre- and postaxial oligodactyly, meaning that people may have fewer fingers or toes or malformations in these digits. Other hand and wrist abnormalities such as clinodactyly, missing phalanges, fused bones in the hand, and underdeveloped wrist bones have been reported. Notably, there have not been further descriptions of this condition in the literature since 1986.

Question 2

What are the symptoms of Robin sequence-oligodactyly syndrome?

Accepted Answer

The symptoms of this condition include severe micrognathia (a very small lower jaw), retroglossia (a tongue positioned further back than normal), and a U-shaped cleft of the posterior palate as part of the Robin sequence. In the hands, there can be fewer fingers or toes (oligodactyly), along with features such as clinodactyly (curved fingers), missing phalanges, fusion of metacarpal bones, and underdeveloped wrist bones.

Question 3

What causes Robin sequence-oligodactyly syndrome?

Accepted Answer

Robin sequence-oligodactyly syndrome is a genetic condition that arises during embryonic development. Although it is known to be a developmental defect, specific genes have not been identified for this condition. The genetic and developmental nature of this syndrome suggests that changes in the way a baby develops in the womb are responsible for the varied features seen in affected individuals.

Question 4

How is Robin sequence-oligodactyly syndrome inherited?

Accepted Answer

Robin sequence-oligodactyly 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 rare is Robin sequence-oligodactyly syndrome?

Accepted Answer

Robin sequence-oligodactyly 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 Robin sequence-oligodactyly syndrome diagnosed?

Accepted Answer

Information about diagnosis is currently limited for this condition.

Question 7

Are there treatments for Robin sequence-oligodactyly syndrome?

Accepted Answer

Information about treatment is currently limited for this condition.

Question 8

What complications can arise from Robin sequence-oligodactyly syndrome?

Accepted Answer

Robin sequence-oligodactyly syndrome can lead to challenges with feeding and breathing due to the small lower jaw and tongue position. These facial features might cause difficulties in swallowing or getting enough nutrition, especially in infants. Additionally, limb differences may affect a person's ability to perform certain tasks, which can impact daily life.

Question 9

How does Robin sequence-oligodactyly syndrome affect daily life for individuals?

Accepted Answer

Daily life for individuals with Robin sequence-oligodactyly syndrome can be impacted by their facial and limb differences. They may need special support for feeding and speech, and they might require physical therapy to help with hand and wrist function. Families often work closely with healthcare providers to manage these challenges and support their loved one's development.

Question 10

What is the expected life expectancy for someone with Robin sequence-oligodactyly syndrome?

Accepted Answer

Currently, there is limited information about the life expectancy of individuals with Robin sequence-oligodactyly syndrome. Since this condition is rare and not well-studied, specific data on long-term outcomes is not available. However, with appropriate medical care and support, many individuals can lead fulfilling lives.

Question 11

What kind of specialists should families consult for Robin sequence-oligodactyly syndrome?

Accepted Answer

Families dealing with Robin sequence-oligodactyly syndrome should consider consulting a team of specialists. This may include a pediatrician, a geneticist for understanding the genetic aspects, and an ear, nose, and throat (ENT) doctor for any breathing or feeding issues. Occupational and physical therapists can also be helpful for managing limb differences and improving daily functioning.

Organ System	Phenotype Count	Example Features
Head and neck	1	Cleft palate
Arms and legs	1	Finger aplasia

Research Type	Count	% of Total
Research summaries	96	54%

Kisho

Robin sequence-oligodactyly syndrome

Overview

Clinical Presentation

Explore clinical features

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

Recent Publications

Latest News & Developments

Pulse oximetry in infants with Robin sequence.

Robin sequence-oligodactyly syndrome

Overview

Clinical Presentation

Explore clinical features

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 Robin sequence-oligodactyly syndrome?

What are the symptoms of Robin sequence-oligodactyly syndrome?

What causes Robin sequence-oligodactyly syndrome?

How is Robin sequence-oligodactyly syndrome inherited?

How rare is Robin sequence-oligodactyly syndrome?

How is Robin sequence-oligodactyly syndrome diagnosed?

Are there treatments for Robin sequence-oligodactyly syndrome?

What complications can arise from Robin sequence-oligodactyly syndrome?

How does Robin sequence-oligodactyly syndrome affect daily life for individuals?

What is the expected life expectancy for someone with Robin sequence-oligodactyly syndrome?

What kind of specialists should families consult for Robin sequence-oligodactyly syndrome?

Recent Publications

Latest News & Developments

Pulse oximetry in infants with Robin sequence.