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MCID: MLT166
MIFTS: 13
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Multiple Synostoses Syndrome 4
Categories:
Genetic diseases, Rare diseases, Ear diseases, Bone diseases, Fetal diseases
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MalaCards integrated aliases for Multiple Synostoses Syndrome 4:
Name: Multiple Synostoses Syndrome 4
57
6
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
variable age at onset of hearing loss, ranging from the first decade to the fifth decade of life Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Ear diseases Bone diseases |
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OMIM
:
57
Multiple synostoses syndrome-4 is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss (Terhal et al., 2018).
For a general phenotypic description and a discussion of genetic heterogeneity of multiple synostoses syndrome, see SYNS1 (186500). (617898)
MalaCards based summary : Multiple Synostoses Syndrome 4, is also known as syns4. An important gene associated with Multiple Synostoses Syndrome 4 is GDF6 (Growth Differentiation Factor 6). Affiliated tissues include bone. |
Diseases in the Multiple Synostoses Syndrome family:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:617898 |
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MalaCards organs/tissues related to Multiple Synostoses Syndrome 4:41
Bone
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ClinVar genetic disease variations for Multiple Synostoses Syndrome 4:6
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Search
GEO
for disease gene expression data for Multiple Synostoses Syndrome 4.
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