Occipital Horn Syndrome

Description

Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.

Clinical Features

Top most frequent phenotypes and symptoms related to Occipital Horn Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Abnormal facial shape
  • Muscular hypotonia
  • Ptosis
  • Flexion contracture
  • High palate

And another 113 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

Occipital Horn Syndrome Is also known as eds ix, formerly, eds ix, ehlers-danlos syndrome type ix, ehlers-danlos syndrome type 9, x-linked cutis laxa, ehlers-danlos syndrome, occipital horn type, formerly, eds9, formerly, cutis laxa, x-linked, formerly.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Occipital Horn Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ATP7A Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ATP7A
Specificity
100 %
Genes
100 %
ATP7A Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ATP7A
Specificity
100 %
Genes
100 %
ATP7A Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

ATP7A
Specificity
100 %
Genes
100 %
ATP7A Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

ATP7A
Specificity
100 %
Genes
100 %
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
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 %
NGS Connective Tissue Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SKI, TGFB2, TGFBR1, TGFBR2, TNXB, ACTA2, SLC2A10, CBS, ACVR1, ATP6V0A2, FKBP14, SLC39A13, ADAMTS2, COL11A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Copper Transport Disorders.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

ATP7A
Specificity
100 %
Genes
100 %

We have 114 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN HYPERTRIGLYCERIDEMIA, FAMILIAL HARTNUP DISORDER; HND DUCHENNE MUSCULAR DYSTROPHY

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more