Rhizomelic chondrodysplasia punctata, type 2

Rhizomelic chondrodysplasia punctata, type 2: Introduction

Rhizomelic chondrodysplasia punctata, type 2: A rare genetic disorder involving abnormal development of bones due to a particular enzyme deficiency (glyceronephosphate O-Acyl transferase). The bones have abnormal calcification of bones near the joints. The genetic defect is located on chromosome 1q42. More detailed information about the symptoms, causes, and treatments of Rhizomelic chondrodysplasia punctata, type 2 is available below.

Symptoms of Rhizomelic chondrodysplasia punctata, type 2

• Low nose bridge
• Broad nose bridge
• Anteverted nostrils
• Cataracts
• Short arms
• more symptoms...»

See full list of 9 symptoms of Rhizomelic chondrodysplasia punctata, type 2

Causes of Rhizomelic chondrodysplasia punctata, type 2

Read more about causes of Rhizomelic chondrodysplasia punctata, type 2.

Rhizomelic chondrodysplasia punctata, type 2: Broader Related Topics

• Genetic conditions
• Bone or skeletal conditions
• Musculoskeletal conditions
• more types...»

Types of Rhizomelic chondrodysplasia punctata, type 2

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