U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Search results

Items: 4

1.

Brachydactyly type A1

In the classification of the brachydactylies, the analysis by Bell (1951) proved highly useful. The type A brachydactylies of Bell have the shortening confined mainly to the middle phalanges. In the A1 type, the middle phalanges of all the digits are rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. Genetic Heterogeneity of Brachydactyly Type A1 BDA1B (607004) has been mapped to chromosome 5. BDA1C (615072) is caused by mutation in the GDF5 gene (601146) on chromosome 20q11. BDA1D (616849) is caused by mutation in the BMPR1B gene (603248) on chromosome 4q22. [from OMIM]

MedGen UID:
354673
Concept ID:
C1862151
Disease or Syndrome
2.

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
3.

Spondyloepiphyseal dysplasia tarda, autosomal recessive

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

MedGen UID:
338604
Concept ID:
C1849054
Disease or Syndrome
4.

Flattened metatarsal heads

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

MedGen UID:
870783
Concept ID:
C4025240
Anatomical Abnormality
Format

Send to:

Choose Destination

Supplemental Content

Find related data

Search details

See more...

Recent activity