Gamuts

Achondrogenesis type 1

Achondrogenesis, type 1B is a severe autosomal recessive skeletal disorder, invariably fatal in the perinatal period. It is characterized by extremely short limbs, a narrow chest and a prominent, rounded abdomen. [Source: Wikipedia ]

Is A
Achondrogenesis
Subtypes
Achondrogenesis type 1A
Achondrogenesis type 1B
May Cause
Abnormal sternum
Blue sclerae
Broad tubular bones
Cleft lip/palate
Congenital short hands and feet
Congenital vertebral abnormality
Congenitally abnormal pelvis
Congenitally abnormal scapula
Corneal abnormality
Defective pubic ossification
Delayed ossification of the pubic bone
External ear malformation
Flaring of ribs
Hydrops fetalis
Hypogonadism
Hypoplastic pelvis
Minimal vertebral ossification
Multiple fractures
Pubic bone nonossification
Ribbon-like ribs
Short metatarsals
Short ribs
Symmetrical anterior rib flaring
Thin ribs
Thoracic dysplasia
Type A pelvis
Wavy ribs

Copyright © 2022, Charles E. Kahn, Jr., MD, MS
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