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Features include always present findings: Short stature, Hypertelorism, and Intellectual disability; and sometimes findings: Long eyebrows, S-shaped palpebral fissures, Seizure, and Mixed hearing impairment and others. 28 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Head and neck | 3 | Cleft palate, Mandibular prognathia, Cleft upper lip |
Phenotype severity distribution: 3 always present features.
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 7:51 AM UTC
Online Mendelian Inheritance in Man
Common questions about acrofrontofacionasal dysostosis 1
Brain and nerves |
2 |
Seizure, Intellectual disability |
Muscles | 2 | Iris atrophy, Damage to the optic nerve (optic atrophy) |
Eyes | 2 | Ptosis, Damage to the optic nerve (optic atrophy) |
Skin | 1 | Small nail |
Growth and development | 1 | Short stature |
Arms and legs | 1 | Short distal phalanx of finger |
Ears | 1 | Mixed hearing impairment |