Pelviscapular Dysplasia
Description
Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.
Clinical Features
Top most frequent phenotypes and symptoms related to Pelviscapular Dysplasia
- Global developmental delay
- Short stature
- Hearing impairment
- Hypertelorism
- Micrognathia
- Strabismus
- Abnormal facial shape
- Cleft palate
- Low-set ears
- Brachydactyly
And another 56 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
Pelviscapular Dysplasia Is also known as craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature, familial pelvis-scapular dysplasia, cousin syndrome, pelviscapular dysplasia.
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.Pelviscapular Dysplasia Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Abnormal/Ambiguous Genitalia Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...)
View the complete list with 52 more genes
Specificity
2 %
Genes
100 % |
Congenital Limb Malformation Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
ROR2, SALL1, BMP2, BMPR1B, SF3B4, FBXW4, SHH, BRCA2, SOX9, TBX15, TBX3, TBX5, THPO, WNT3, WNT7A, LMBR1, NSDHL, HDAC4, SALL4, TP63 , (...)
View the complete list with 48 more genes
Specificity
2 %
Genes
100 % |
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
ROR2, SALL1, BMP15, BMP4, SEMA3A, SEMA3E, BMP7, FOXL2, BRDT, SOS1, SOX10, SOX2, SOX3, SOX9, SRA1, SRD5A2, SRY, STAG3, STAR, AURKC , (...)
View the complete list with 187 more genes
Specificity
1 %
Genes
100 % |
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
ROR2, SALL1, BMP15, BMP4, SEMA3A, BMP7, FOXL2, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TAC3, TACR3, TBX15, HNF1B, MED12 , (...)
View the complete list with 138 more genes
Specificity
1 %
Genes
100 % |
Ambiguous Genitalia Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
ROR2, SALL1, BMP4, SEMA3A, SOS1, SOX10, SOX2, SOX3, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT5A, WNT7A, WT1, WWOX , (...)
View the complete list with 65 more genes
Specificity
2 %
Genes
100 % |
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.
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 % |
Cousin syndrome.
By Centogene AG - the Rare Disease Company (Germany).
TBX15
Specificity
100 %
Genes
100 % |
Selected Genetic Syndromes with skeletal involvement Panel.
By CeGaT GmbH (Germany).
SALL1, SF3B4, TBCE, TBX15, TBX3, TBX5, NIN, SALL4, PCNT, ORC6, CENPJ, CDC6, CDKN1C, CUL7, CREBBP, POC1A, CDT1, FAM111A, LARP7, CCDC8 , (...)
View the complete list with 22 more genes
Specificity
3 %
Genes
100 % |
You can get up to 7 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM ORPHANET MESH Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY; SRTD2 PROTEUS-LIKE SYNDROME IDIOPATHIC ACHALASIA ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1; ARCS1 ACROCAPITOFEMORAL DYSPLASIA; ACFD MENTAL RETARDATION, X-LINKED 30; MRX30