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1.

Symphalangism-brachydactyly syndrome

Multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion. Other features include brachydactyly, hypoplastic or absent middle phalanges, radial head dislocation, and pectus carinatum (summary by Takahashi et al., 2001). Genetic Heterogeneity of Multiple Synostoses Syndrome Other forms of multiple synostoses syndrome include SYNS2 (610017), caused by mutation in the GDF5 gene (601146) on chromosome 20q11; SYNS3 (612961), caused by mutation in the FGF9 gene (600921) on chromosome 13q12; and SYNS4 (617898), caused by mutation in the GDF6 gene (601147) on chromosome 8q22. [from OMIM]

MedGen UID:
90977
Concept ID:
C0342282
Disease or Syndrome
2.

Proximal/middle symphalangism of 5th toe

Bony fusion of the middle and proximal phalanges of the 5th toe. [from HPO]

MedGen UID:
866626
Concept ID:
C4020973
Anatomical Abnormality

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