/hypertrichosis cubiti-short stature syndrome

hypertrichosis cubiti-short stature syndrome

Rare Disease

MONDO:0007693

Also Known As

MacDermot-Patton-Williams syndromehairy elbowshairy elbows syndromehypertrichosis cubiti

Definition

Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.