Weyers acrofacial dysostosis

What it is, symptoms and effects

From: MedlinePlus Genetics, National Library of Medicine

Weyers acrofacial dysostosis is a disorder that affects the development of the teeth, nails, and bones. Dental abnormalities can include small, peg-shaped teeth; fewer teeth than normal (hypodontia); and one front tooth instead of two (a single central incisor). Additionally, the lower jaw (mandible) may be abnormally shaped. People with Weyers acrofacial dysostosis have abnormally small or malformed fingernails and toenails. Most people with the condition are relatively short, and they may have extra fingers or toes (polydactyly).

The features of Weyers acrofacial dysostosis overlap with those of another, more severe condition called Ellis-van Creveld syndrome. In addition to tooth and nail abnormalities, people with Ellis-van Creveld syndrome have very short stature and are often born with heart defects. The two conditions are caused by mutations in the same genes.

ORPHANET DEFINITION A rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.

Inheritance

From: MedlinePlus Genetics, National Library of Medicine

Autosomal dominant

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.

Abnormal fingernail morphology · Very frequent (99-80%)

An abnormality of the fingernails.

Abnormal oral frenulum morphology · Very frequent (99-80%)

An abnormality of the lingual frenulum, that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity.

Abnormal toenail morphology · Very frequent (99-80%)

An anomaly of the toenail.

Abnormality of the dentition · Very frequent (99-80%)

Any abnormality of the teeth.

Advanced eruption of teeth · Very frequent (99-80%)

Premature tooth eruption, which can be defined as tooth eruption more than 2 SD earlier than the mean eruption age.

Conical tooth · Very frequent (99-80%)

An abnormal conical form of the teeth, that is, a tooth whose sides converge or taper together incisally.

Hypodontia · Very frequent (99-80%)

The absence of five or less teeth from the normal series by a failure to develop.

Hypoplastic toenails · Very frequent (99-80%)

Underdevelopment of the toenail.

Mild short stature · Very frequent (99-80%)

A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.

Nail dystrophy · Very frequent (99-80%)

Onychodystrophy (nail dystrophy) refers to nail changes apart from changes of the color (nail dyschromia) and involves partial or complete disruption of the various keratinous layers of the nail plate.

Postaxial hand polydactyly · Very frequent (99-80%)

Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).

Single median maxillary incisor · Very frequent (99-80%)

A single maxillary central incisor positioned in the midline with morphological symmetry of the crown and bordered by lateral incisors.

Small nail · Very frequent (99-80%)

A nail that is diminished in length and width, i.e., underdeveloped nail.

Toenail dysplasia · Very frequent (99-80%)

An abnormality of the development of the toenails.

Other findings in the same source

From: Orphanet

Additional reported features include Abnormality of the antihelix (Frequent (79-30%)); Clinodactyly of the 5th finger (Frequent (79-30%)); Facial cleft (Frequent (79-30%)); Overlapping fingers (Frequent (79-30%)); Small hand (Frequent (79-30%)). This is a selected summary, not a complete description of the condition.

When it may begin

From: MedlinePlus Genetics, National Library of Medicine

Neonatal

Inheritance in the source

From: MedlinePlus Genetics, National Library of Medicine

Autosomal dominant

Understanding the inheritance label

From: MedlinePlus Genetics

An autosomal dominant pattern means that one altered copy of a relevant gene can be sufficient for the condition. Some affected people inherit the change; others have a new change without an affected parent. The precise finding, family history and condition determine what this means for relatives.

Which doctor should you see?

The suggested department for discussing Weyers acrofacial dysostosis 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 Weyers acrofacial dysostosis. 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.