Keppen-Lubinsky syndrome

What it is

From: Orphanet

A rare, genetic, primary lipodystrophy syndrome characterized by severe developmental delay and intellectual disability, hypertonia, hyperreflexia, microcephaly, tightly adherent skin, an aged appearance, severe generalized lipodystrophy, and distinct facial dysmorphism which includes large prominent eyes, narrow nasal bridge, tented upper lip vermilion, an open mouth, and high-arched palate. Laboratory analysis of serum and urine are normal.

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.

Hyperreflexia · Very frequent (99-80%)

Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.

Intellectual disability · Very frequent (99-80%)

The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.

Microcephaly · Very frequent (99-80%)

Head circumference below 2 standard deviations below the mean for age and gender.

Micrognathia · Very frequent (99-80%)

Developmental hypoplasia of the mandible.

Open mouth · Very frequent (99-80%)

A facial appearance characterized by a permanently or nearly permanently opened mouth.

Premature skin wrinkling · Very frequent (99-80%)

The presence of an increased degree of wrinkling (irregular folds and indentations) of the skin as compared with age-related norms.

Progeroid facial appearance · Obligate (100%)

A degree of wrinkling of the facial skin that is more than expected for the age of the individual, leading to a prematurely aged appearance.

Short philtrum · Very frequent (99-80%)

Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.

Congenital generalized lipodystrophy · Obligate (100%)

Abnormality of eye movement · Frequent (79-30%)

An abnormality in voluntary or involuntary eye movements or their control.

Abnormality of the forehead · Frequent (79-30%)

An anomaly of the forehead.

Abnormally large globe · Frequent (79-30%)

Diffusely large eye (with megalocornea) without glaucoma.

Chin dimple · Frequent (79-30%)

A persistent midline depression of the skin over the fat pad of the chin.

Decreased testicular size · Frequent (79-30%)

Reduced volume of the testicle (the male gonad).

Other findings in the same source

From: Orphanet

Additional reported features include Dyspnea (Frequent (79-30%)); Failure to thrive (Frequent (79-30%)); Flexion contracture (Frequent (79-30%)); Gingival overgrowth (Frequent (79-30%)); High palate (Frequent (79-30%)); Hypertonia (Frequent (79-30%)); Intellectual disability, profound (Frequent (79-30%)); Lipodystrophy (Frequent (79-30%)); Loss of facial adipose tissue (Frequent (79-30%)); Mask-like facies (Frequent (79-30%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: Orphanet

Neonatal

Inheritance in the source

From: Orphanet

Autosomal dominant; Not applicable

Frequency and the population described

From: Orphanet

Reported case(s): 3.0; Worldwide. This is a published case count, not prevalence. Point prevalence: <1 / 1 000 000; Worldwide; Class only.

Which doctor should you see?

The suggested department for discussing Keppen-Lubinsky syndrome is Endocrinology, with a endocrinologist as the relevant type of clinician. General physician / Family Medicine; paediatrician for children. Referral depends on symptoms.

Additional services that may be relevant, depending on the findings, include: Clinical Genetics.

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.

• Which hormone or metabolic finding is important in this case?
• How should test timing and current medicines be taken into account?
• What follow-up would show whether the care plan is working?

Treatment discussions and follow-up

The material gathered for this draft does not provide a complete condition-specific treatment pathway for Keppen-Lubinsky 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.