Acrofacial dysostosis, Weyers type

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Acrofacial dysostosis, Weyers type

ORPHA:952Malformation syndrome

Also called Curry-Hall syndrome · Weyers acrodental dysostosis · Weyers acrofacial dysostosis

What it is

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.

Key facts

Age of onset
Neonatal
Inheritance
Autosomal dominant
Classified as
Malformation syndrome

Recorded for the broader condition

Prevalence
6-9 / 10 000Ectodermal dysplasia syndrome

Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Genes

CTNNB1Disease-causing germline mutation(s) (gain of function)
EVCDisease-causing germline mutation(s)
EVC2Disease-causing germline mutation(s)

ICD-10 codes

Q75.4filed under a broader ICD-10 category — shared with 12 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 497MESH C536695MONDO 0008673OMIM 193530UMLS C0457013

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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