Acrofacial dysostosis atypical postaxial
Overview
A rare genetic disorder characterized by absence of some fingers and toes and characteristic facial features
Symptoms
- Malar hypoplasia
- Down-slanting palpebral fissures
- Colobomata of eyelids
- Ectropion
- Small lower jaw
- Cleft lip
- Cleft palate
- Hypoplastic ears
- Cup shaped ears
- Fifth fingers missing
- Fifth toes missing
- Shortened fingers
- Shortened toes
- In-curving forearms
- Underdeveloped forearm bones
- Syndactyly
- Accessory nipple
- Thin lips
- Asymmetrical face
Causes
The causes of following diseases are similar or associated to Acrofacial dysostosis atypical postaxial
- Cleft lip
- Cleft plate
- Ectropion
- Genee-Wiedmann syndrome
- Miller syndrome