Postaxial Acrofacial Dysostosis

Description

Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.

Clinical Features

Top most frequent phenotypes and symptoms related to Postaxial Acrofacial Dysostosis

  • Hearing impairment
  • Growth delay
  • Micrognathia
  • Strabismus
  • Cleft palate
  • Cryptorchidism
  • Low-set ears
  • Feeding difficulties
  • Downslanted palpebral fissures
  • Ventricular septal defect

And another 45 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Postaxial Acrofacial Dysostosis Is also known as genee-wiedemann syndrome, miller syndrome, mandibulfacial dysostosis with postaxial limb anomalies, postaxial acrodysostosis, poads, acrofacial dysostosis, genee-wiedmann type.

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

Postaxial Acrofacial Dysostosis 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 %
Facial Dysostosis Sequencing Panel.

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

SF3B4, TCOF1, ALX1, EVC2, POLR1C, POLR1D, CHD7, DHODH, ZSWIM6, EFTUD2, EFNB1, EVC, ALX3, ALX4, MYCN, PDE4D, PRKAR1A
Specificity
6 %
Genes
100 %
Craniofacial Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

RUNX2, SALL1, SF3B4, SIX1, SIX5, SKI, SNRPB, TCF12, TCOF1, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, POLR1A, WDR19, EVC2, POLR1C, POLR1D , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Craniofacial Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

RUNX2, SALL1, SF3B4, SIX1, SIX5, SKI, SNRPB, TCF12, TCOF1, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, POLR1A, WDR19, EVC2, POLR1C, POLR1D , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Craniofacial Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

RUNX2, SALL1, SF3B4, SIX1, SIX5, SKI, SNRPB, TCF12, TCOF1, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, POLR1A, WDR19, EVC2, POLR1C, POLR1D , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Miller syndrome (sequence analysis of DHODH gene).

By CGC Genetics (Portugal).

DHODH
Specificity
100 %
Genes
100 %
Treacher Collins Syndrome/Mandibulofacial Dysostosis/Miller syndrome/Acrofacial Dysostosis, Nagar Type Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SF3B4, TCOF1, POLR1C, POLR1D, DHODH, EFTUD2
Specificity
17 %
Genes
100 %
Facial Dysostosis Related Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SF3B4, SMC1A, TCF12, TCOF1, TWIST1, HDAC8, SRCAP, POLR1C, POLR1D, CREBBP, SMC3, DHODH, NIPBL, EFTUD2, EP300, FGFR1, FGFR2, FGFR3, RAD21
Specificity
6 %
Genes
100 %

We have 21 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME; PVHH MICROCEPHALY-LYMPHEDEMA-CHORIORETINOPATHY SYNDROME JUNCTIONAL EPIDERMOLYSIS BULLOSA INVERSA CARPENTER SYNDROME 1; CRPT1

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more