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A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.
Features include: Short stature, Wide anterior fontanel, Broad hallux, and Hypertelorism and 21 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 2 | High palate, Microcephaly |
Skin |
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 2:05 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about acrofrontofacionasal dysostosis 2
Redundant neck skin, Thickened nuchal skin fold |
Growth and development | 1 | Short stature |
Arms and legs | 1 | Hand polydactyly |
Eyes | 1 | Ptosis |