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Items: 2

1.

Spondyloepiphyseal dysplasia congenita

MedGen UID:
412530
Concept ID:
C2745959
Congenital Abnormality
2.

Achondroplasia

Achondroplasia is the most common process resulting in disproportionate small stature. Affected individuals have short arms and legs, a large head, and characteristic facial features with frontal bossing and midface retrusion (formerly known as midface hypoplasia). In infancy, hypotonia is typical, and acquisition of developmental motor milestones is often both aberrant in pattern and delayed. Intelligence and life span are usually near normal, although craniocervical junction compression increases the risk of death in infancy. [from GTR]

MedGen UID:
1289
Concept ID:
C0001080
Congenital Abnormality

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