Fetal Akinesia Deformation Sequence

Description

The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.

Clinical Features

Top most frequent phenotypes and symptoms related to Fetal Akinesia Deformation Sequence

  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Ptosis
  • Low-set ears
  • Flexion contracture
  • High palate

And another 64 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available Fetal Akinesia Deformation Sequence have a estimated birth prevalence of 0.6 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Fetal Akinesia Deformation Sequence Is also known as arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome, arthrogryposis multiplex congenita with pulmonary hypoplasia, fads, pena-shokeir syndrome type 1, fetal akinesia sequence, pena-shokeir syndrome, type i.

Researches and researchers

Doctors, researchs, and experts related to Fetal Akinesia Deformation Sequence extracted from public data.

Fetal Akinesia Deformation Sequence Experts map



Current Researchs and researchers

  • CORBEIL-ESSONNES — Pr Judith MELKI

    Coordinator of expert centre - Clinical expert - Clinical geneticist - Investigator of research project

    • Institution/s:
      — INSERM UMR 788, CHU Paris-Sud - Hôpital de Bicêtre
      — Pôle Femme, Mère, Enfant, Centre Hospitalier Sud Francilien
      — CHU Paris-Sud - Hôpital de Bicêtre
    • Research area/topic::

      Sequencing of the whole exome in arthrogryposes and fetal akeesias with a gene not identified by the targeted exome


  • LE KREMLIN-BICÊTRE — Pr Judith MELKI

    Coordinator of expert centre - Clinical expert - Clinical geneticist - Investigator of research project

    • Institution/s:
      — INSERM UMR 788, CHU Paris-Sud - Hôpital de Bicêtre
      — Pôle Femme, Mère, Enfant, Centre Hospitalier Sud Francilien
      — CHU Paris-Sud - Hôpital de Bicêtre
    • Research area/topic::

      Sequencing of the whole exome in arthrogryposes and fetal akeesias with a gene not identified by the targeted exome



Mendelian

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Fetal Akinesia Deformation Sequence Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Myasthenic Syndrome Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

SCN4A, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, DOK7, DPAGT1, AGRN, GFPT1, MUSK, RAPSN
Specificity
24 %
Genes
75 %
Neuromuscular Disorders Panel.

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

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...)

View the complete list with 124 more genes
Specificity
3 %
Genes
75 %
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
6 %
Genes
75 %
Comprehensive Neuromuscular Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RYR1, RYR2, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, TCAP, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, VCP, VRK1, ACTA1, CAPN3 , (...)

View the complete list with 59 more genes
Specificity
4 %
Genes
75 %
Neuromuscular Disorders Sequencing Panel.

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

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, STIM1, SYT2, TCAP, TNNT1, TNXB, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, RXYLT1 , (...)

View the complete list with 91 more genes
Specificity
3 %
Genes
75 %
Congenital Myasthenic Syndrome Sequencing Panel.

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

SCN4A, SNAP25, SYT2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, COLQ, ALG2, DOK7, ALG14, DPAGT1, PREPL, AGRN, GFPT1, LRP4, MUSK, RAPSN
Specificity
15 %
Genes
75 %
Congenital Myasthenic Syndrome Deletion/Duplication Panel.

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

SCN4A, SNAP25, SYT2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COL13A1, COLQ, ALG2, DOK7, ALG14, DPAGT1, PREPL, AGRN, GFPT1, LRP4, MUSK, RAPSN
Specificity
15 %
Genes
75 %
Myasthenic syndrome associated with acetylcholine receptor deficiency (sequence analysis of MUSK gene).

By CGC Genetics (Portugal).

MUSK
Specificity
100 %
Genes
25 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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