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Items: 3

1.

Camptodactyly-arthropathy-coxa vara-pericarditis syndrome

The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is an autosomal recessive condition characterized by the association of congenital or early-onset camptodactyly and noninflammatory arthropathy with synovial hyperplasia. Progressive coxa vara deformity and/or noninflammatory pericardial or pleural effusions are found in some patients (summary by Faivre et al., 2000). [from OMIM]

MedGen UID:
349226
Concept ID:
C1859690
Disease or Syndrome
2.

Spondyloepiphyseal dysplasia tarda, autosomal recessive

Autosomal recessive form of spondyloepiphyseal dysplasia tarda. [from MONDO]

MedGen UID:
338604
Concept ID:
C1849054
Disease or Syndrome
3.

Flattened metacarpal heads

Abnormally flat shape of the heads of the metacarpal bones. [from HPO]

MedGen UID:
868729
Concept ID:
C4023134
Anatomical Abnormality
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