Details of Disease

General Information of Disease (ID: DIS5R0E3)

Disease Name Silverman-Handmaker type dyssegmental dysplasia
Synonyms
Anisospondylic Camptomicromelic dwarfism, Silverman-Handmaker type; dyssegmental dysplasia, Silverman-Handmaker type; dyssegmental dysplasia Silverman-Handmaker type; dyssegmental dwarfism, Silverman-Handmaker type; DDSH; dyssegmental dwarfism Silverman-Handmaker type; Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type
Definition
Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.
Disease Hierarchy
DIS1JG9A: Spondyloepiphyseal dysplasia
DISR6T5K: Qualitative or quantitative defects of perlecan
DIS5R0E3: Silverman-Handmaker type dyssegmental dysplasia
Disease Identifiers
MONDO ID
MONDO_0009140
MESH ID
C537998
UMLS CUI
C1857100
OMIM ID
224410
MedGen ID
347372
Orphanet ID
1865
SNOMED CT ID
765204000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
HSPG2 TT5UM29 Disputed Genetic Variation [1]
HSPG2 TT5UM29 Definitive Autosomal recessive [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HSPG2 OT6HTSJT Definitive Autosomal recessive [2]
------------------------------------------------------------------------------------

References

1 Dyssegmental dysplasia, Silverman-Handmaker type: A challenging antenatal diagnosis in a dizygotic twin pregnancy.Mol Genet Genomic Med. 2018 May;6(3):452-456. doi: 10.1002/mgg3.379. Epub 2018 Mar 11.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.