Setleis Syndrome: Causes, Symptoms and Treatment

Setleis syndrome is a rare genetic disorder primarily affecting facial development and skin appearance. It is part of a group of conditions known as focal facial dermal dysplasias.

Babies born with Setleis syndrome often have distinctive facial features such as scar-like skin on the temples, sparse scalp hair, and tight facial skin.

Setleis Syndrome Types

There are two main types of Setleis syndrome, each presenting with unique features, though both share some common characteristics. Understanding these Setleis syndrome types helps healthcare providers diagnose accurately and offer appropriate care.

Type 1 Setleis Syndrome

Distinctive facial features characterise this type, including a mask-like face, a small mouth, and thin lips.
Individuals with Type 1 Setleis syndrome may also have sparse scalp hair or patchy hair loss, often noticeable from birth.
Other signs may include widely spaced eyes, a small nose, and abnormal skin texture on the scalp or face.

Type 2 Setleis Syndrome

Type 2 Setleis syndrome is marked by multiple skin-coloured papules (small bumps) on the face, neck, and chest.
These papules may resemble sebaceous nevi or xanthomas, which are harmless but cosmetically noticeable.
Individuals with Type 2 Setleis syndrome may also experience facial asymmetry, delayed development, and vision problems.

Get a second opinion from trusted experts and makeconfident, informed decisions.

Get Second Opinion

Why is Setleis Syndrome Rare?

Setleis syndrome is considered ultra-rare, meaning it occurs in fewer than 1 in 1 million births globally. Its rarity is due to the inheritance pattern — both parents must carry a mutated TWIST2 gene, which is uncommon.

Global Prevalence of Setleis Syndrome

The exact global prevalence is unknown due to the rarity of reported cases.
Most cases have been identified in families with consanguineous marriages (marriages between relatives).
It has been reported in various parts of the world, including the Middle East, Latin America, and some Mediterranean regions.
Due to limited awareness and underdiagnosis, the true global prevalence of Setleis syndrome may be underestimated.

Setleis Syndrome Symptoms

Setleis syndrome symptoms can vary from person to person, but most individuals show distinct facial features and skin changes from birth.

This rare genetic disorder primarily affects the face and scalp, creating a unique appearance that helps doctors identify the condition early.

Here are some common symptoms of Setleis syndrome:

Facial Abnormalities: Individuals often have a mask-like facial appearance, with tight skin stretched across the forehead, a small mouth, and a flattened nose.
Sparse Hair: Many people with Setleis syndrome are born with very little hair on the scalp, eyebrows, and eyelashes. Bald patches on the head are also standard.
Skin Changes: Some may develop scar-like skin lesions on the scalp, along with reduced skin elasticity, giving the skin a thin, fragile texture.
Eye Problems: Setleis syndrome symptoms may include vision issues like nearsightedness or astigmatism.
Speech and Developmental Delays: Children may experience difficulty in speech development and learning.
Hearing Loss: Some individuals might have partial hearing problems.

Recognizing these symptoms of setleis syndrome early helps ensure proper diagnosis and treatment. If you notice these signs in your child, seeking guidance from a genetic specialist can help you understand the condition better and plan appropriate care.

Setleis Syndrome Causes

Researchers have identified that mutations in the TWIST2 gene play a central role in the causes of Setleis syndrome. This gene helps control facial features and skin structure formation during early development.

Key causes of Setleis syndrome include:

Genetic mutations: Alterations in the TWIST2 gene disrupt normal facial development, leading to the characteristic features seen in Setleis syndrome.
Autosomal recessive inheritance: In most cases, both parents carry one copy of the altered gene, and the child inherits both faulty copies, resulting in the syndrome.
De novo mutations: In some cases, the genetic change occurs for the first time in the affected child, even if there is no family history.
Consanguinity: Marriages between close relatives increase the risk of inheriting genetic disorders, including Setleis syndrome.
Unknown factors: Though TWIST2 gene mutations are the primary cause, researchers believe other unidentified genetic or environmental triggers could also contribute.

Understanding these causes of Setleis syndrome can help families make informed decisions and seek genetic counselling to assess future risks.

Setleis Syndrome Risk Factors

Understanding Setleis Syndrome risk factors helps families and healthcare providers make informed decisions.

Genetic inheritance: Setleis Syndrome is inherited in an autosomal recessive manner, meaning both parents must pass on a faulty gene for the child to be affected.
Family history: If close relatives have Setleis Syndrome, the risk increases for future generations.
Consanguineous marriages: Marriages between close relatives can raise the chance of passing on the same genetic mutation, contributing to Setleis Syndrome risk factors.
De novo mutations: Sometimes, a genetic change may appear for the first time in a child with no family history.
Advanced parental age: Older parents may have a slightly higher risk of having a child with Setleis Syndrome due to spontaneous genetic changes.

Setleis Syndrome Diagnosis

Setleis syndrome diagnosis typically involves clinical evaluation by a geneticist or dermatologist.

Medical History Review: Understanding family history and any similar symptoms in relatives.
Physical Examination: Doctors check for facial features like a mask-like face, sparse scalp hair, and skin abnormalities.
Genetic Testing: A blood test can identify mutations in the TWIST2 gene, which confirms the diagnosis.
Specialist Consultation: Geneticists, dermatologists, and pediatricians may collaborate to assess symptoms.

Setleis Syndrome Treatment

Setleis syndrome treatment focuses on managing symptoms and improving quality of life since there is no specific cure for this rare genetic condition.

Key components of treatment for Setleis syndrome include:

Regular dermatological care to manage skin abnormalities like scar-like lesions and reduced skin elasticity.
Speech therapy for individuals with speech delays and communication difficulties linked to developmental delays.
Vision and hearing assessments, followed by corrective measures such as glasses or hearing aids if needed.
Surgical interventions, if necessary, to correct severe craniofacial abnormalities that may impact functionality or appearance.
Physical therapy to support motor development and improve physical skills.
Genetic counseling for families to understand inheritance patterns, potential risks for future pregnancies, and available support resources.

Your health is everything - prioritize your well-being today.

Schedule Your Appointment

Setleis Syndrome Prognosis

Setleis Syndrome Prognosis depends on the severity of symptoms and the type of supportive care provided.

As a rare genetic disorder, Setleis syndrome mainly affects the skin and facial features, but it can also involve developmental delays, vision issues, and speech difficulties.

Life expectancy for individuals with Setleis syndrome is usually expected if no severe complications arise.
Early diagnosis and a personalized treatment plan improve long-term outcomes.
Regular follow-ups with dermatologists, geneticists, and developmental specialists enhance quality of life.
Setleis Syndrome Prognosis improves when therapy for speech and developmental delays begins early.
Genetic counselling helps families understand the prognosis and inheritance patterns.
With supportive care, many children with Setleis syndrome can lead healthy, fulfilling lives.

Find Our Specialists

Book Doctor Appointment