Question 1

What is Stüve-Wiedemann syndrome 1?

Accepted Answer

Stüve-Wiedemann syndrome 1 is a rare, inherited condition that primarily affects the bones. It is known as a congenital skeletal dysplasia, meaning that people with this condition are born with differences in how their bones form and grow.

People with this condition often have a small stature and experience bone bowing, especially in the long bones. The condition is also associated with other physical difficulties, including limited finger movement (camptodactyly), episodes of high body temperature (hyperthermic episodes), breathing challenges such as respiratory distress and apnea, as well as feeding difficulties that can lead to early mortality.

Question 2

What are the symptoms of Stüve-Wiedemann syndrome 1?

Accepted Answer

Common signs of Stüve-Wiedemann syndrome 1 include small stature, bowing of the long bones, and camptodactyly (stiff fingers). People with this condition may also experience episodes of high body temperature, respiratory distress or apneic episodes, and difficulties with feeding.

Question 3

What causes Stüve-Wiedemann syndrome 1?

Accepted Answer

Stüve-Wiedemann syndrome 1 is caused by genetic changes and is inherited in an autosomal recessive manner. This means that a child must receive a copy of the faulty gene from both parents to develop the condition. The known gene involved in this condition is LIFR. Associated genes include LIFR.

Question 4

How is Stüve-Wiedemann syndrome 1 inherited?

Accepted Answer

Stüve-Wiedemann syndrome 1 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 Stüve-Wiedemann syndrome 1?

Accepted Answer

Stüve-Wiedemann syndrome 1 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 Stüve-Wiedemann syndrome 1 diagnosed?

Accepted Answer

Information about diagnosis is currently limited for this condition.

Question 7

Are there treatments for Stüve-Wiedemann syndrome 1?

Accepted Answer

Information about treatment options is currently limited for this condition.

Question 8

What are the common complications associated with Stüve-Wiedemann syndrome 1?

Accepted Answer

Stüve-Wiedemann syndrome 1 can lead to several complications, including respiratory distress and episodes of high body temperature. These complications can make it difficult for individuals to breathe properly and may require careful monitoring. Feeding difficulties are also common, which can impact nutrition and growth.

Question 9

How does Stüve-Wiedemann syndrome 1 affect daily life for those who have it?

Accepted Answer

Daily life for individuals with Stüve-Wiedemann syndrome 1 can be challenging due to their small stature and bone bowing. They may need assistance with movement and daily activities, especially if they experience respiratory issues or feeding difficulties. Supportive care is essential to help manage these challenges.

Question 10

What is the life expectancy for someone with Stüve-Wiedemann syndrome 1?

Accepted Answer

The prognosis for individuals with Stüve-Wiedemann syndrome 1 is often difficult, as the condition can lead to early mortality. Many face significant health challenges throughout their lives, which can impact their overall life expectancy. Comprehensive care and support are crucial for managing these health issues.

Question 11

What specific symptoms should families look for in Stüve-Wiedemann syndrome 1?

Accepted Answer

Families should be aware of specific symptoms such as small stature, bowing of the long bones, and camptodactyly, which is stiffness in the fingers. Additionally, episodes of high body temperature, respiratory distress, and feeding difficulties are important signs to monitor. Recognizing these symptoms can help in seeking timely medical care.

Organ System	Phenotype Count	Example Features
Bones and joints	14	Enlarged joints, Femoral bowing, Contracture of the proximal interphalangeal joint of the 5th finger
Muscles	9	Low muscle tone (hypotonia), Generalized hypotonia, Contracture of the proximal interphalangeal joint of the 5th finger
Brain and nerves	6	Seizure, Intellectual disability, Hypernasal speech
Lungs and breathing	6	Apnea, Pulmonary arterial medial hypertrophy, Pulmonary hypoplasia
Arms and legs	5	Contracture of the proximal interphalangeal joint of the 5th finger, Ulnar deviation of finger, Flexion contracture of toe
Skin	5	Thin skin, Excessive sweating (hyperhidrosis), Premature skin wrinkling
Eyes	4	Opacification of the corneal stroma, Absent corneal reflex, Abnormality of the eye
Digestive system	3	Feeding difficulties, Difficulty swallowing (dysphagia), Feeding difficulties in infancy
Growth and development	2	Short stature, Intrauterine growth retardation
Metabolism	2	Fever, Recurrent fever
Head and neck	1	Square face
Blood and immune system	1	Recurrent infections
Heart and blood vessels	1	High blood pressure in lung arteries (pulmonary arterial hypertension)

Research Type	Count	% of Total
Patient case studies	7	70%
Research summaries	2	20%
Laboratory research	1	10%

Kisho

Stüve-Wiedemann syndrome 1

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

Stüve-Wiedemann syndrome 1

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 Stüve-Wiedemann syndrome 1?

What are the symptoms of Stüve-Wiedemann syndrome 1?

What causes Stüve-Wiedemann syndrome 1?

How is Stüve-Wiedemann syndrome 1 inherited?

How rare is Stüve-Wiedemann syndrome 1?

How is Stüve-Wiedemann syndrome 1 diagnosed?

Are there treatments for Stüve-Wiedemann syndrome 1?

What are the common complications associated with Stüve-Wiedemann syndrome 1?

How does Stüve-Wiedemann syndrome 1 affect daily life for those who have it?

What is the life expectancy for someone with Stüve-Wiedemann syndrome 1?

What specific symptoms should families look for in Stüve-Wiedemann syndrome 1?