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Items: 2

1.

Enlargement of the distal femoral epiphysis

An abnormal enlargement of the distal epiphysis of the femur. [from HPO]

MedGen UID:
334682
Concept ID:
C1843105
Finding
2.

Acrocapitofemoral dysplasia

Acrocapitofemoral dysplasia (ACFD) is an autosomal recessive skeletal dysplasia characterized by postnatal-onset disproportionate short stature, relatively large head, narrow thorax, lumbar lordosis, short limbs, and brachydactyly with small broad nails (Ozyavuz Cubuk and Duz, 2021). [from OMIM]

MedGen UID:
334681
Concept ID:
C1843096
Disease or Syndrome

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