Conditions / Syndrome
mandibulofacial dysostosis, Guion-Almeida type
info ยท Syndrome
A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia.
Signs and symptoms
- Preaxial hand polydactyly
- Epicanthus
- Upslanted palpebral fissure
- Preauricular skin tag
- Trigonocephaly
- Short stature
- Deep philtrum
- Anteverted nares
- Short nose
- Microtia
Also known as: MFDM syndrome; mandibulofacial dysostosis with microcephaly; mandibulofacial dysostosis-microcephaly syndrome