| Oral anomalies |
Incomplete midline lip and alveolar cleft |
Incomplete midline lip and alveolar cleft |
| |
Submucous cleft palate |
Submucous cleft palate |
| |
Hyperplastic frenula |
Bifid tongue with hyperplastic frenula |
| |
Tongue hamartomas |
Tongue hamartomas |
| |
General dental hypoplasia: |
General dental hypoplasia: |
| |
Dental agenesis of the 3.1, 4.1 |
Dental agenesis of the 1.2, 2.2 and 2 lower incisors (3.1 and 4.1) |
| |
Cupular shaped upper incisors |
Central incisors and cuspids with talon cusps |
| |
Taurodontia with fused/conical short roots of the molars |
Taurodontia with fused/conical short roots of molars |
| Facial anomalies |
Maxillary hypoplasia
Protruding ears, left more pronounced than right |
Maxillary hypoplasia |
| Limb anomalies |
Brachydactyly, clinodactyly digiti V |
Brachydactyly, syndactyly of fingers |
| |
Bifid right hallux, broad left hallux |
Bilateral broad hallux |
| |
Mild mesomelic limb shortening in lower limbs |
Mild mesomelic limb shortening in lower limbs |
| Other features |
Progressive, mainly conductive hearing loss, right side more affected than left |
Mild conductive hearing loss (15–20 dB) |
| |
Bilateral tortuosity of the retinal veins |
Bilateral tortuosity of the retinal veins |