Acrofacial dysostosis Preis type
Overview
One of a group of disorders characterized by defective limb and facial development. The Preis type is very rare and the range and severity of symptoms is variable.
Symptoms
- Absent lashes
- Decreased lashes
- Absent ears
- Small ears
- Blepharophimosis
- Short palpebral fissures
- Broad nasal root
- Absent collarbone
- Abnormal collarbone
- Upper limb deficiency
- Upslanted fissures
- Cleft palate
- Exaggerated cupid bows
- Flat cheek bones
- Hand anomalies
- High vaulted palate
- Narrow palate
- Absent humerus
- Abnormal humerus
- Small jaw
- Recessed jaw
- Premature birth
- Fused forearm bones
- Short neck
- Skeletal anomalies
- Stillbirth
- Infant death
- Webbed toes
- Clubfoot
- Telecanthus
- Wrist anomalies
Diagnosis
Parental diagnosis can be carried out by ultrasonography, while postnatal diagonis can be established, relying upon clinical and radiological features and with chromosome analysis in syndromal cases.