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1.

Multiple synostoses syndrome 2

Multiple synostoses syndrome-2 (SYNS2) is an autosomal dominant disorder characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss (summary by Dawson et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 (186500). [from OMIM]

MedGen UID:
331348
Concept ID:
C1832708
Disease or Syndrome
2.

Chromosome 17P13.3, telomeric, duplication syndrome

MedGen UID:
390813
Concept ID:
C2675492
Disease or Syndrome
3.

Finger symphalangism

An abnormal union between bones or parts of bones of the fingers. The synonymous term "symphalangism of the hand" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as "Symphalangism" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as "bony" Syndactyly. [from HPO]

MedGen UID:
867041
Concept ID:
C4021399
Anatomical Abnormality
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