Acroosteolysis Dominant Type

Description

Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.

Clinical Features

Top most frequent phenotypes and symptoms related to Acroosteolysis Dominant Type

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

And another 76 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

Acroosteolysis Dominant Type Is also known as acrodentoosteodysplasia, acroosteolysis with osteoporosis and changes in skull and mandible, cheney syndrome, hajdu-cheney syndrome, arthrodentoosteodysplasia.

Researches and researchers

Doctors, researchs, and experts related to Acroosteolysis Dominant Type extracted from public data.

Acroosteolysis Dominant Type Experts map



Current Researchs and researchers

  • ANTWERPEN — Pr Wim VAN HUL

    Responsible for diagnostic tests - Investigator of research project - Director of laboratory

    • Institution/s:
      — Center for Medical Genetics - University Antwerp, University of Antwerp - UA
      — Center of Medical Genetics, Centrum Medische Genetica - UZA
    • Research area/topic::

      Evaluation of the role of LRP4 in the regulation of Wnt/Bcatenin dependent Wnt signalling and bone formation


  • ANTWERPEN-EDEGEM — Pr Wim VAN HUL

    Responsible for diagnostic tests - Investigator of research project - Director of laboratory

    • Institution/s:
      — Center for Medical Genetics - University Antwerp, University of Antwerp - UA
      — Center of Medical Genetics, Centrum Medische Genetica - UZA
    • Research area/topic::

      Evaluation of the role of LRP4 in the regulation of Wnt/Bcatenin dependent Wnt signalling and bone formation


  • SIOUX FALLS — Pr Kameswaran SURENDRAN

    Investigator of research project

    • Institution/s:
      — Sanford Children's Health Research Center, Sanford Research
    • Research area/topic::

      The molecular regulators of kidney collecting duct differentiation



Mendelian

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Acroosteolysis Dominant Type 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 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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