Acromicric Dysplasia

Table of contents:

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

Description

Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.

Genes related to Acromicric Dysplasia

LTBP3
SMAD2
TGFB1
FBN1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Acromicric Dysplasia

Short stature
Growth delay
Abnormal facial shape
Brachydactyly
Anteverted nares
Short nose
Long philtrum
Delayed skeletal maturation
Severe short stature
Narrow mouth

And another 27 symptoms. If you need more information about this disease we can help you.

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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.

Acromicric Dysplasia Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Platyspondyly with amelogenesis imperfecta (sequence analysis of LTBP3 gene). By CGC Genetics (Portugal). LTBP3 Specificity 100 % Genes 25 %
Platyspondyly with amelogenesis imperfecta (sequence analysis of LTBP3 gene). By CGC Genetics (Portugal). LTBP3 Specificity 100 % Genes 25 %
Amelogenesis Imperfecta Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). CNNM4, SLC24A4, SMOC2, FAM20A, FAM83H, ODAPH, WDR72, DLX3, ROGDI, ENAM, GPR68, AMELX, ITGB6, KLK4, LAMA3, LAMB3, LTBP3, MMP20 Specificity 6 % Genes 25 %
Dental Anomalies and Amelogenesis Imperfecta via LTBP3 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). LTBP3 Specificity 100 % Genes 25 %
Tooth Agenesis Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). WNT10A, EDARADD, EDAR, EDA, LTBP3, MSX1, PAX9, AXIN2 Specificity 13 % Genes 25 %
Oligodontia - Selective tooth agenesis Comprehensive panel. By Connective Tissue Gene Tests (United States). WNT10B, WNT10A, EDA, LRP6, LTBP3, MSX1, PAX9, AXIN2, PTH1R Specificity 12 % Genes 25 %
Oligodontia - Selective tooth agenesis NGS panel. By Connective Tissue Gene Tests (United States). WNT10B, WNT10A, EDA, LRP6, LTBP3, MSX1, PAX9, AXIN2, PTH1R Specificity 12 % Genes 25 %
Oligodontia - Selective tooth agenesis Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). WNT10B, WNT10A, EDA, LRP6, LTBP3, MSX1, PAX9, AXIN2, PTH1R Specificity 12 % Genes 25 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Search Engine

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