Hyposmia-nasal And Ocular Hypoplasia-hypogonadotropic Hypogonadism Syndrome

Description

This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.

Clinical Features

Top most frequent phenotypes and symptoms related to Hyposmia-nasal And Ocular Hypoplasia-hypogonadotropic Hypogonadism Syndrome

  • Cleft palate
  • Cataract
  • Cryptorchidism
  • Blindness
  • Microphthalmia
  • Visual loss
  • Inguinal hernia
  • Hypogonadism
  • Iris coloboma
  • Bifid uvula

And another 15 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

Hyposmia-nasal And Ocular Hypoplasia-hypogonadotropic Hypogonadism Syndrome Is also known as bosma arhinia-microphthalmia syndrome, bosma-henkin-christiansen syndrome.

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

Hyposmia-nasal And Ocular Hypoplasia-hypogonadotropic Hypogonadism Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Muscular Dystrophy Advanced Evaluation.

By Athena Diagnostics Inc (United States).

SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CCDC78, CAPN3, DNAJB6, CAV3, TRIM32, SYNE2, SYNE1, FKRP, POMGNT1, POMT2, TRAPPC11, DAG1, ANO5 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Neuromuscular Disorders Panel.

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

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Facioscapulohumeral muscular dystrophy 2 (sequence analysis of SMCHD1 gene).

By CGC Genetics (Portugal).

SMCHD1
Specificity
100 %
Genes
100 %
Facioscapulohumeral muscular dystrophy-2 (sequence analysis of SMCHD1 gene and DUX4 haplotype).

By CGC Genetics (Portugal).

SMCHD1, DUX4
Specificity
50 %
Genes
100 %
Congenital muscular dystrophies (NGS panel for 31 genes).

By CGC Genetics (Portugal).

TCAP, TTN, SELENON, SYNE2, SYNE1, FKRP, POMGNT1, CHKB, POMT2, COL6A1, COL6A2, COL6A3, GMPPB, ANO5, TMEM43, SMCHD1, DMD, DNM2, DPM2, DYSF , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel.

By PreventionGenetics PreventionGenetics (United States).

SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, VCP, CAPN3, DNAJB6, CAV3, LIMS2, TRIM32, TNPO3, FKRP, POMGNT1, POMT2, GMPPB, TRAPPC11, POMK , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Facioscapulohumeral Muscular Dystrophy 2 via SMCHD1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SMCHD1
Specificity
100 %
Genes
100 %
Comprehensive Neuromuscular Sequencing Panel.

By PreventionGenetics PreventionGenetics (United States).

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, SQSTM1, STIM1, SYT2, TCAP, TIA1, TNNI2, TNNT1, TNNT3, TPM2, TPM3, MYOT, TTN , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
100 %

We have 15 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEUROBLASTOMA, SUSCEPTIBILITY TO DIGEORGE SYNDROME; DGS LEUKODYSTROPHY, HYPOMYELINATING, 5; HLD5

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more