Hypomyelination Neuropathy-arthrogryposis Syndrome

Description

Hypomyelination neuropathy-arthrogryposis syndrome is a rare, genetic, limb malformation syndrome characterized by multiple congenital distal joint contractures (incl. talipes equinovarus and both proximal and distal interphalangeal joint contractures of the hands) and very severe motor paralysis at birth (i.e. lack of swallowing, autonomous respiratory function and deep tendon reflexes), leading to death within first 3 months of life. Fetal hypo- or akinesia, late-onset polyhydramnios and dramatically reduced, or absent, motor nerve conduction velocities (<10 m/s) are frequently associated. Nerve ultrastructural morphology shows severe abnormalities of the nodes of Ranvier and myelinated axons.

Clinical Features

Phenotypes and symptoms related to Hypomyelination Neuropathy-arthrogryposis Syndrome

  • Muscular hypotonia
  • Respiratory distress
  • Limitation of joint mobility
  • EMG abnormality
  • Reduced tendon reflexes

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.

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.


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Hypomyelination Neuropathy-arthrogryposis Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital contracture syndrome extended NGS panel.

By Connective Tissue Gene Tests (United States).

TNNI2, TNNT3, TPM2, VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, NALCN, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42 , (...)

View the complete list with 11 more genes
Specificity
10 %
Genes
100 %
Congenital contracture syndrome extended Comprehensive panel.

By Connective Tissue Gene Tests (United States).

TNNI2, TNNT3, TPM2, VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, NALCN, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42 , (...)

View the complete list with 11 more genes
Specificity
10 %
Genes
100 %
Congenital contracture syndrome extended Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

TNNI2, TNNT3, TPM2, VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, NALCN, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, PIEZO2, DOK7, GLDN, DNM2, ECEL1, ZBTB42 , (...)

View the complete list with 11 more genes
Specificity
10 %
Genes
100 %
Lethal congenital contracture syndrome and related disorders Comprehensive Panel.

By Connective Tissue Gene Tests (United States).

VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, DOK7, GLDN, DNM2, ZBTB42, ERBB3, GLE1, LMNA, MUSK, MYBPC1, CNTNAP1 , (...)

View the complete list with 2 more genes
Specificity
14 %
Genes
100 %
Lethal congenital contracture syndrome and related disorders NGS Panel.

By Connective Tissue Gene Tests (United States).

VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, DOK7, GLDN, DNM2, ZBTB42, ERBB3, GLE1, LMNA, MUSK, MYBPC1, CNTNAP1 , (...)

View the complete list with 2 more genes
Specificity
14 %
Genes
100 %
Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel.

By Connective Tissue Gene Tests (United States).

VPS33B, ZMPSTE24, ADGRG6, NEK9, LGI4, CHRNA1, CHRND, CHRNG, VIPAS39, ADCY6, DOK7, GLDN, DNM2, ZBTB42, ERBB3, GLE1, LMNA, MUSK, MYBPC1, CNTNAP1 , (...)

View the complete list with 2 more genes
Specificity
14 %
Genes
100 %
LGI4.

By Fulgent Genetics Fulgent Genetics (United States).

LGI4
Specificity
100 %
Genes
34 %
Congenital Contractures Panel.

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

SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...)

View the complete list with 37 more genes
Specificity
4 %
Genes
67 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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