Dyssegmental Dysplasia, Silverman-handmaker Type

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, 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.

Genes related to Dyssegmental Dysplasia, Silverman-handmaker Type

HSPG2

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Dyssegmental Dysplasia, Silverman-handmaker Type

Micrognathia
Cleft palate
Cryptorchidism
Wide nasal bridge
Talipes equinovarus
Respiratory insufficiency
Atrial septal defect
Malar flattening
Inguinal hernia
Severe short stature

And another 21 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Dyssegmental Dysplasia, Silverman-handmaker Type Is also known as dyssegmental dwarfism, silverman-handmaker type, anisospondylic camptomicromelic dwarfism, silverman-handmaker type.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Dyssegmental Dysplasia, Silverman-handmaker Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Myotonic Syndrome Advanced Evaluation. By Athena Diagnostics Inc (United States). SCN4A, CNBP, CAV3, CLCN1, DMPK, HSPG2, ATP2A1 Specificity 15 % Genes 100 %
NGS Skeletal Dysplasia Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SLC26A2, SOX9, TRPV4, COL1A2, COMP, FGFR3, FLNA, HSPG2 Specificity 13 % Genes 100 %
HSPG2 - Dyssegmental dysplasia / Schwartz Jampel syndrome. By Centre of Molecular Diseases (CMM) CHUV (Switzerland). HSPG2 Specificity 100 % Genes 100 %
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics (United States). RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...) View the complete list with 17 more genes Panel complete gene list RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP, AGPS, EVC, FGFR1, FGFR2, FGFR3, FLNA, FLNB, ALPL, GNPAT, HSPG2, LBR, LIFR, ARSE, NEK1, PEX7, POR, PPIB Specificity 3 % Genes 100 %
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal. By ARUP Laboratories, Molecular Genetics and Genomics (United States). RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP , (...) View the complete list with 17 more genes Panel complete gene list RUNX2, SLC26A2, SOX9, TRIP11, SERPINH1, TRPV4, FKBP10, WDR19, P3H1, EVC2, SLC35D1, COL1A2, COMP, CRTAP, TTC21B, DLL3, WDR35, IFT80, DYNC2H1, EBP, AGPS, EVC, FGFR1, FGFR2, FGFR3, FLNA, FLNB, ALPL, GNPAT, HSPG2, LBR, LIFR, ARSE, NEK1, PEX7, POR, PPIB Specificity 3 % Genes 100 %
HSPG2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). HSPG2 Specificity 100 % Genes 100 %
Schwartz-Jampel Syndrome type 1 (sequence analysis of HSPG2 gene). By CGC Genetics (Portugal). HSPG2 Specificity 100 % Genes 100 %
Schwartz-Jampel syndrome types 1 and 2 (NGS panel of 2 genes). By CGC Genetics (Portugal). HSPG2, LIFR Specificity 50 % Genes 100 %

You can get up to 45 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET MESH OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RITSCHER-SCHINZEL SYNDROME 2; RTSC2 TETRALOGY OF FALLOT; TOF BLOOD GROUP, VEL SYSTEM; VEL SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE; SEMDG SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION; SPENCDI L-2-HYDROXYGLUTARIC ACIDURIA; L2HGA CHROMOSOME 3q13.31 DELETION SYNDROME