Wiedemann-Rautenstrauch syndrome

What it is, symptoms and effects

From: MedlinePlus Genetics, National Library of Medicine

Wiedemann-Rautenstrauch syndrome is a type of progeria. People with progeria have certain features that make them look older than they are. The signs and symptoms of Wiedemann-Rautenstrauch syndrome begin before birth as affected individuals do not grow and gain weight at the expected rate (intrauterine growth restriction).

People with Wiedemann-Rautenstrauch syndrome have distinctive facial features that give the appearance of old age. They often have a triangular face with a prominent forehead and pointed chin, a small mouth with a thin upper lip, a small jaw, low-set ears, and abnormal lower eyelids. In most affected individuals, the middle of the face looks as though it is drawn inward (midface retraction). On the head, hair is sparse, and the veins are prominent.

In people with Wiedemann-Rautenstrauch syndrome, the spaces (fontanelles) between the skull bones (that are noticeable as "soft spots" on the heads of infants) are larger than normal. The fontanelles normally close in early childhood, but they may remain open in people with this condition. Individuals with Wiedemann-Rautenstrauch syndrome may appear to have an abnormally large head, but their head size is typically normal for their age (pseudohydrocephalus).

Some individuals with Wiedemann-Rautenstrauch syndrome have intellectual disabilities. Affected children may also have developmental disabilities.

Many affected infants are born with teeth (natal teeth); these teeth fall out a few weeks after birth. Some or all of their permanent (adult) teeth may never develop (hypodontia).

A lack of fatty tissue under the skin (lipodystrophy), particularly in the face, arms, and legs, can make people with Wiedemann-Rautenstrauch syndrome look older than they are. In addition, the skin is thin and translucent.

Some individuals with Wiedemann-Rautenstrauch syndrome develop joint abnormalities called contractures that can limit movement. Additionally, movement problems such as difficulty with coordination and balance (ataxia) or involuntary rhythmic shaking (tremor), can appear during childhood and worsen over time. Some people with Wiedemann-Rautenstrauch syndrome have vision or hearing problems.

While many people with Wiedemann-Rautenstrauch syndrome do not survive past infancy or early childhood, others live into their teens or twenties.

ORPHANET DEFINITION A rare multiple congenital anomalies/dysmorphic syndrome characterized by marked prenatal and postnatal growth retardation, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and an unusual face. Mild to moderate intellectual disability is common.

Inheritance

From: MedlinePlus Genetics, National Library of Medicine

Autosomal recessive

Frequency in the source

From: MedlinePlus Genetics, National Library of Medicine

Reported case(s): 37.0; Worldwide. This is a published case count, not prevalence. Point prevalence: <1 / 1 000 000; Worldwide; Class only.

Reported clinical features and what the terms mean

The following findings are associated with this condition in Orphanet. They are not a checklist for diagnosing yourself, and they do not all occur in every affected person. Some are examination, imaging or laboratory findings that cannot be recognised at home.

The frequency labels describe how often a finding was reported among people with the condition in the source. They do not give the chance that a person with that symptom has the condition. Definitions below reproduce HPO terminology; they explain the term, not the likely severity in an individual.

Broad forehead · Very frequent (99-80%)

Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead.

Convex nasal ridge · Very frequent (99-80%)

Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low.

Deeply set eye · Very frequent (99-80%)

An eye that is more deeply recessed into the plane of the face than is typical.

Downturned corners of mouth · Very frequent (99-80%)

A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.

Entropion · Very frequent (99-80%)

An abnormal inversion (turning inward) of the eyelid (usually the lower) towards the globe. Entropion is usually acquired as a result of involutional or cicatricial processes but may occasionally be congenital.

Frontal bossing · Very frequent (99-80%)

Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.

Hypertelorism · Very frequent (99-80%)

Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).

Intrauterine growth retardation · Very frequent (99-80%)

An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.

Lipoatrophy · Very frequent (99-80%)

Localized loss of fat tissue.

Loss of facial adipose tissue · Very frequent (99-80%)

Loss of normal subcutaneous fat tissue in the face.

Malar flattening · Very frequent (99-80%)

Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.

Narrow mouth · Very frequent (99-80%)

Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).

Natal tooth · Very frequent (99-80%)

A tooth present at birth or erupting within the first month of life.

Pointed chin · Very frequent (99-80%)

A marked tapering of the lower face to the chin.

Other findings in the same source

From: Orphanet

Additional reported features include Posteriorly rotated ears (Very frequent (99-80%)); Progeroid facial appearance (Very frequent (99-80%)); Reduced subcutaneous adipose tissue (Very frequent (99-80%)); Relative macrocephaly (Very frequent (99-80%)); Retrognathia (Very frequent (99-80%)); Severe intrauterine growth retardation (Very frequent (99-80%)); Short philtrum (Very frequent (99-80%)); Short stature (Very frequent (99-80%)); Slender build (Very frequent (99-80%)); Sparse scalp hair (Very frequent (99-80%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: MedlinePlus Genetics, National Library of Medicine

Antenatal; Neonatal

Inheritance in the source

From: MedlinePlus Genetics, National Library of Medicine

Autosomal recessive

Frequency and the population described

From: MedlinePlus Genetics, National Library of Medicine

Reported case(s): 37.0; Worldwide. This is a published case count, not prevalence. Point prevalence: <1 / 1 000 000; Worldwide; Class only.

Understanding the inheritance label

From: MedlinePlus Genetics

An autosomal recessive pattern usually involves disease-causing changes in both copies of a gene. Parents may each carry one altered copy without having the condition themselves. A genetic counsellor can explain carrier testing and reproductive implications using the actual laboratory findings, rather than the condition name alone.

Which doctor should you see?

The suggested department for discussing Wiedemann-Rautenstrauch syndrome is Clinical Genetics, with a clinical geneticist as the relevant type of clinician. Paediatrician (children) or physician (adults), with clinical geneticist referral.

This is an editorial referral starting point. The appropriate clinic depends on the person’s age, symptoms, previous diagnosis and local services. The first clinician can decide whether another specialty or a team is needed; a department label does not confirm the diagnosis.

How to prepare for an assessment

Bring a short timeline of the main symptoms: when they first appeared, whether they are constant or episodic, what seems to change them, and how they affect daily activities. Include previous reports, discharge summaries, current medicines and supplements, allergies, and any relevant family history. A dated record is more useful than trying to match every feature in an online article.

Ask the clinician what is already established and what remains uncertain. If a test is suggested, ask what question it answers, what its limitations are and how the result would change the next step. The information here is not an instruction to arrange every possible test. In children, bring growth, developmental and school information if it is relevant to the concern.

• Does the exact genetic or chromosome finding explain the observed features?
• Would a genetic counsellor help the family understand the result?
• Which organ-specific assessments are appropriate for this particular diagnosis?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Wiedemann-Rautenstrauch syndrome. That gap does not mean that treatment is unavailable. A clinician needs to establish the diagnosis and review current guidance before recommending medicines, procedures, rehabilitation or other support.

Before leaving the appointment, clarify the next review date, who will communicate results, and whom to contact if the situation changes. Discuss difficulties with sleep, work, school, mobility, eating or emotional wellbeing when these are relevant. Practical support may require coordination between the treating clinician and other services.

The collected references do not establish a complete prevention or long-term outlook section for this entry. Missing information should not be interpreted as proof that prevention is impossible or that a particular outcome is inevitable. Ask what is known for the exact subtype, stage and personal circumstances, and which uncertainties remain.

When to seek emergency help

Severe breathing difficulty, collapse, new stroke-like symptoms, a seizure that is prolonged or repeated without recovery, uncontrolled major bleeding, or an immediate risk of self-harm require emergency help. In India, call 112 or reach the nearest emergency department. This is a general, non-exhaustive warning list; it is not a condition-specific triage tool.