Hypochondroplasia
Description
Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.
Clinical Features
Top most frequent phenotypes and symptoms related to Hypochondroplasia
- Intellectual disability
- Scoliosis
- Brachydactyly
- Macrocephaly
- Skeletal dysplasia
- Hyperlordosis
- Joint hyperflexibility
- Micromelia
- Osteoarthritis
- Abnormality of the metaphysis
And another 10 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Based on the latest data available HYPOCHONDROPLASIA have a estimated prevalence of 3.3 per 100k worldwide.— No data available about the known clinical features onset.
Researches and researchers
Doctors, researchs, and experts related to Hypochondroplasia extracted from public data.
Hypochondroplasia Experts map
Current Researchs and researchers
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— Institution: Information not provided - FR
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Institution/s:
— Institution: Information not provided - FR -
Research area/topic::
ATAK: Achondroplasia: Therapeutical approach with irreversible FGFR3-tyrosine kinase inhibitor
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Institution/s:
Hypochondroplasia Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Baylor Miraca Genetics Laboratories (United States).
FGFR3
Specificity
100 %
Genes
100 % |
![]() By Baylor Miraca Genetics Laboratories (United States).
RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS , (...)
View the complete list with 9 more genes
Specificity
4 %
Genes
100 % |
![]() By Athena Diagnostics Inc (United States).
SHH, STIL, SIX3, TUBA8, SLC25A19, DEAF1, ARFGEF2, RAB3GAP1, CENPJ, NDE1, FKRP, ARX, ASPM, POMGNT1, POMT2, TUBA1A, COL4A1, CPT2, WDR62, DCX , (...)
View the complete list with 20 more genes
Specificity
3 %
Genes
100 % |
![]() By Athena Diagnostics Inc (United States).
SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)
View the complete list with 214 more genes
Specificity
1 %
Genes
100 % |
![]() By Athena Diagnostics Inc (United States).
BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)
View the complete list with 149 more genes
Specificity
1 %
Genes
100 % |
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)
View the complete list with 66 more genes
Specificity
2 %
Genes
100 % |
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SLC26A2, SOX9, TRPV4, COL1A2, COMP, FGFR3, FLNA, HSPG2
Specificity
13 %
Genes
100 % |
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
FGFR3
Specificity
100 %
Genes
100 % |
You can get up to 287 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like X-LINKED INTELLECTUAL DISABILITY, GOLABI-ITO-HALL TYPE KERATOSIS PILARIS ATROPHICANS; KPA JALILI SYNDROME