Is A

Chondrodysplasia punctata

Subtypes

Rhizomelic chondrodysplasia punctata type 1

Rhizomelic chondrodysplasia punctata type 2

Rhizomelic chondrodysplasia punctata type 3

May Cause

Cleft lip/palate

Congenital heart disease

Congenitally limited joint mobility

Dumbbell bones

Facial hypoplasia

Ichthyosis

Lethal skeletal dysplasia

Limited joint mobility

Metaphyseal cupping

Microcephaly

Patent ductus arteriosus

Premature laryngeal cartilage calcification

Premature tracheobronchial cartilage calcification

Rhizomelic dwarfism

Rhizomelic limb shortness

Short squat bones

Skin pigment abnormality

Stippled epiphyses

Type A pelvis

Ventricular septal defect

Vertebral coronal cleft

Wide metaphysis