Gamuts

Chondrodysplasia punctata rhizomelic type

Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections and congenital cataracts. [Source: Wikipedia ]

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

Copyright © 2022, Charles E. Kahn, Jr., MD, MS
ALL RIGHTS RESERVED
About "Gamuts"

Quiz