Acrogeria

Clinical Features

Top most frequent phenotypes and symptoms related to Acrogeria

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Micrognathia
  • Cataract
  • Skeletal dysplasia
  • Joint hyperflexibility
  • Joint hypermobility
  • Small hand
  • Short foot

And another 14 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.

Alternative names

Acrogeria Is also known as acrometageria, metageria, acrogeria, gottron type, gottron 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.


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Acrogeria Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
COL3A1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

COL3A1
Specificity
100 %
Genes
100 %
COL3A1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

COL3A1
Specificity
100 %
Genes
100 %
COL3A1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

COL3A1
Specificity
100 %
Genes
100 %
Low Bone Mass Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

SLC34A1, SLC9A3R1, TNFRSF11A, TNFRSF11B, IFITM5, SP7, FKBP10, P3H1, SLC39A13, COL1A2, COL3A1, COL5A1, COL5A2, CRTAP, FBN1, ALPL, SERPINF1, PLOD2, PLOD3, PPIB , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
NGS Aortic Dysfunction or Dilation and Related Disorders Panel.

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

SKI, TGFB2, TGFBR1, TGFBR2, ACTA2, SLC2A10, CBS, COL3A1, COL5A1, COL5A2, ELN, FBLN5, FBN1, FBN2, SMAD3, MYH11, MYLK, NOTCH1, PLOD1
Specificity
6 %
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 %
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
2 %
Genes
100 %

We have 151 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH OMIM 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 PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1; PPNAD1 SUPRAVALVULAR AORTIC STENOSIS; SVAS HEMOCHROMATOSIS, TYPE 1; HFE1 DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA, NAILS ONLY DENTINOGENESIS IMPERFECTA 1; DGI1 OVERHYDRATED HEREDITARY STOMATOCYTOSIS; OHST

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