Acromesomelic dysplasia Hunter Thompson type
Overview
Acromesomelic dysplasia Hunter Thompson type is a rare genetic syndrome characterized by various severe developmental abnormalities of the skeletal bones. These abnormalities are restricted to the limbs, the craniofacial skeleton and axial skeletal structure.
Symptoms
- Ankle anomalies
- Short digits
- Elbow dislocation
- Underdeveloped thumb
- Irregularly shaped toes
- Irregular length of toes
- Irregularly shaped fingers
- Irregular length of fingers
- Mesomelic micromelia
- Short foot
- Short toes
- Short stature
- Simian crease
- Speech defect (Neurological speech impairment)
- Fused ankle bones
- Dislocated hip
- Mental retardation
- Dislocated kneecap
- Pelvis anomaly
- Restricted joint mobility
- Scoliosis
- Wrist anomalies
- Brachydactyly syndrome
- Micromelia
- Single transverse palmar crease
- Tarsal synostosis
- Abnormality of the ankles
- Brachydactyly syndrome
- Elbow dislocation
- Micromelia
- Neurological speech impairment
- Single transverse palmar crease
- Tarsal synostosis
Resources
- NIH