Phocomelia contractures absent thumb
Overview
Phocomelia - contractures - absent thumb: A very rare syndrome characterized mainly by absent thumbs, contractures and missing arm and leg bones.
Symptoms
The list of signs and symptoms mentioned in various sources for Phocomelia - contractures - absent thumb includes the 20 symptoms listed below: * Missing arm bones * Missing leg bones * Short stature * Absent thumbs * Contractures * Missing fingers * Restricted joint mobility * Fused wrist bones * Rib abnormality * Abnormal dermatoglyphics * Curved fifth finger * Abnormal upper arm bone * Abnormal forearm bones * Webbed fingers * Abnormal collarbone * Deafness * Shoulder blade anomaly * Undescended testes * Ureter anomaly
Causes
* Abnormal collarbone * Curved fifth finger * Deafness * Missing fingers * Restricted joint mobility * Short stature * Webbed fingers