Metatropic Dysplasia

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.

Genes related to Metatropic Dysplasia

TRPV4

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Clinical Features

Top most frequent phenotypes and symptoms related to Metatropic Dysplasia

Short stature
Hearing impairment
Scoliosis
Cleft palate
Cataract
Flexion contracture
Depressed nasal bridge
Brachydactyly
Respiratory insufficiency
Hydrocephalus

And another 59 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available METATROPIC DYSPLASIA have a estimated birth prevalence of 0.2 per 100k worldwide.
— No data available about the known clinical features onset.

Alternative names

Metatropic Dysplasia Is also known as metatropic dwarfism.

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.

Metatropic Dysplasia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CMT Advanced Evaluation - Dominant. By Athena Diagnostics Inc (United States). YARS, LITAF, MFN2, TRPV4, DNM2, HSPB8, EGR2, GARS, HSPB1, MPZ, NEFL, PMP22, RAB7A Specificity 8 % Genes 100 %
CMT Advanced Evaluation - Dominant, Axonal. By Athena Diagnostics Inc (United States). YARS, MFN2, TRPV4, DNM2, HSPB8, GARS, HSPB1, LMNA, MPZ, NEFL, RAB7A Specificity 10 % Genes 100 %
CMT Advanced Evaluation - Comprehensive. By Athena Diagnostics Inc (United States). YARS, PRX, GDAP1, LITAF, FIG4, MFN2, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MPZ, MTMR2, NDRG1 , (...) View the complete list with 3 more genes Panel complete gene list YARS, PRX, GDAP1, LITAF, FIG4, MFN2, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MPZ, MTMR2, NDRG1, NEFL, PMP22, RAB7A Specificity 5 % Genes 100 %
CMT Advanced Evaluation - Axonal. By Athena Diagnostics Inc (United States). YARS, GDAP1, MFN2, TRPV4, DNM2, HSPB8, GARS, GJB1, HSPB1, LMNA, MPZ, NEFL, RAB7A Specificity 8 % Genes 100 %
TRPV4 DNA Sequencing Test. By Athena Diagnostics Inc (United States). TRPV4 Specificity 100 % Genes 100 %
CMT Advanced Evaluation - Nonprevalent. By Athena Diagnostics Inc (United States). YARS, PRX, GDAP1, LITAF, FIG4, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MTMR2, NDRG1, NEFL, PMP22 , (...) View the complete list with 1 more genes Panel complete gene list YARS, PRX, GDAP1, LITAF, FIG4, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MTMR2, NDRG1, NEFL, PMP22, RAB7A Specificity 5 % Genes 100 %
Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation. By Athena Diagnostics Inc (United States). UBA1, VRK1, BICD2, TRPV4, DYNC1H1, HSPB8, GARS, HSPB1, HSPB3, IGHMBP2 Specificity 10 % Genes 100 %
CMT Advanced Evaluation - Nonprevalent Axonal. By Athena Diagnostics Inc (United States). YARS, GDAP1, TRPV4, DNM2, HSPB8, GARS, GJB1, HSPB1, LMNA, NEFL, RAB7A Specificity 10 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Genetic Syndrome Finder

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