Acroosteolysis

Clinical Features

Top most frequent phenotypes and symptoms related to Acroosteolysis

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain
  • Cataract
  • Low-set ears

And another 92 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Acroosteolysis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Liver Diseases Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SCP2, SLC10A1, SLC10A2, SLC25A13, SLC27A5, SMPD1, HNF1A, HNF1B, TJP2, UGT1A1, VPS33B, NEUROG3, ABCG5, ABCG8, NPC2, INVS, DCDC2, HSD3B7, CFTR, NPHP4 , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
100 %
NOTCH2 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

NOTCH2
Specificity
100 %
Genes
100 %
Renal Cystic Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SALL1, SDCCAG8, HNF1B, TFAP2A, TSC1, TSC2, CEP41, UMOD, VHL, ARL6, NEK8, TMEM237, TRIM32, CDC73, INVS, CEP83, DCDC2, WDR19, CRB2, BBS7 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
Connective Tissue Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, C1R, C1S, ACTA2, ADAMTS10, SLC2A10, ADAMTSL2, CBS, TAB2, B3GALT6, ATP6V0A2, FKBP14, RIN2 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
Osteogenesis Imperfecta & Low Bone Mass Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

BMP1, SEC24D, SPARC, WNT1, CASR, SERPINH1, IFITM5, SP7, FKBP10, CREB3L1, P3H1, SLC34A3, COL1A2, CRTAP, TMEM38B, GORAB, DMP1, ENPP1, FGF23, ALPL , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Alagille Syndrome type 2.

By Human Genetics University Hospital Bern (Switzerland).

NOTCH2
Specificity
100 %
Genes
100 %
NOTCH2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

NOTCH2
Specificity
100 %
Genes
100 %
NOTCH2. Sequencing of the exons 34.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

NOTCH2
Specificity
100 %
Genes
100 %

We have 93 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like POPLITEAL PTERYGIUM SYNDROME; PPS MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME; OPPG IMMUNODEFICIENCY 31B; IMD31B PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY KOOLEN-DE VRIES SYNDROME; KDVS SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS; SEDCJD

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more