Chondrodysplasia With Joint Dislocations, Gpapp Type
Description
Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.
Genes related to Chondrodysplasia With Joint Dislocations, Gpapp Type
- IMPAD1
Clinical Features
Top most frequent phenotypes and symptoms related to Chondrodysplasia With Joint Dislocations, Gpapp Type
- Short stature
- Hearing impairment
- Growth delay
- Micrognathia
- Abnormal facial shape
- Cleft palate
- Brachydactyly
- Wide nasal bridge
- Short nose
- Narrow mouth
And another 11 symptoms. If you need more information about this disease we can help you.
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
Chondrodysplasia With Joint Dislocations, Gpapp Type Is also known as gpapp deficiency.
Researches and researchers
Doctors, researchs, and experts related to Chondrodysplasia With Joint Dislocations, Gpapp Type extracted from public data.
Chondrodysplasia With Joint Dislocations, Gpapp Type Experts map
Current Researchs and researchers
-
Responsible for diagnostic tests - Investigator of research project - Director of laboratoryPAVIA — Pr Antonio ROSSI
-
Institution/s:
— Dipartimento di Medicina Molecolare, Università degli Studi di Pavia - Biochimica '' A. Castellani'' -
Research area/topic::
Chondrodysplasia with joint dislocations gPAPP type: insight on the molecular basis of the disorder and the role of IMPAD1 in post-natal skeletal development
-
Institution/s:
Chondrodysplasia With Joint Dislocations, Gpapp Type Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Centre of Molecular Diseases (CMM) CHUV (Switzerland).
IMPAD1
Specificity
100 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
BMP4, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, IFT122, RAB23, IRX5, TMCO1, WDR19, SCARF2, FREM1, IMPAD1, ESCO2, IFT140, WDR35, EFNB1, MEGF8, ERF , (...)
View the complete list with 10 more genes
Specificity
4 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
IMPAD1
Specificity
100 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
IMPAD1
Specificity
100 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)
View the complete list with 236 more genes
Specificity
1 %
Genes
100 % |
![]() By Connective Tissue Gene Tests (United States).
SLC26A2, XYLT1, GZF1, B3GALT6, CHST3, CANT1, CSGALNACT1, IMPAD1, FLNB, KIF22, B3GAT3
Specificity
10 %
Genes
100 % |
![]() By Connective Tissue Gene Tests (United States).
SLC26A2, XYLT1, GZF1, B3GALT6, CHST3, CANT1, CSGALNACT1, IMPAD1, FLNB, KIF22, B3GAT3
Specificity
10 %
Genes
100 % |
![]() By Connective Tissue Gene Tests (United States).
SLC26A2, XYLT1, GZF1, B3GALT6, CHST3, CANT1, CSGALNACT1, IMPAD1, FLNB, KIF22, B3GAT3
Specificity
10 %
Genes
100 % |
You can get up to 13 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WAARDENBURG SYNDROME, TYPE 4C; WS4C THYROID DYSHORMONOGENESIS 3; TDH3 OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13