Focal Dermal Hypoplasia
Description
Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.
Clinical Features
Top most frequent phenotypes and symptoms related to Focal Dermal Hypoplasia
- Intellectual disability
- Short stature
- Hearing impairment
- Microcephaly
- Scoliosis
- Growth delay
- Nystagmus
- Neoplasm
- Micrognathia
- Strabismus
And another 182 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
Focal Dermal Hypoplasia Is also known as dhof, goltz syndrome, goltz-gorlin syndrome, fodh.
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.Focal Dermal Hypoplasia Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
PORCN Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
PORCN
Specificity
100 %
Genes
100 % |
PORCN Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
PORCN
Specificity
100 %
Genes
100 % |
PORCN Sequence Analysis (Familial Mutation/Variant Analysis).
By Baylor Miraca Genetics Laboratories (United States).
PORCN
Specificity
100 %
Genes
100 % |
NGS XLID Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TAF1, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZMYM3, ZNF41, ZNF711 , (...)
View the complete list with 94 more genes
Specificity
1 %
Genes
100 % |
X-Linked Intellectual Disabilities Deletion/Duplication.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X , (...)
View the complete list with 68 more genes
Specificity
2 %
Genes
100 % |
X-linked Intellectual Disabilities Sequencing.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X , (...)
View the complete list with 68 more genes
Specificity
2 %
Genes
100 % |
X-Linked Intellectual Disabilities Sequencing and Deletion/Duplication.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).
RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X , (...)
View the complete list with 67 more genes
Specificity
2 %
Genes
100 % |
Anophthalmia/microphthalmia.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).
BMP4, SIX6, SOX2, TFAP2A, VAX1, ALX1, PORCN, MFRP, RAX, VSX2, BCOR, COL4A1, FREM1, CRYBA4, TENM3, STRA6, FOXE3, PRSS56, ALDH1A3, GDF3 , (...)
View the complete list with 9 more genes
Specificity
4 %
Genes
100 % |
You can get up to 38 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
ORPHANET OMIM MESH Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like THAUVIN-ROBINET-FAIVRE SYNDROME; TROFAS SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14 DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE; DYT2