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Foetal akinesia-hypokinesia sequence

MedGen UID:
539169
•Concept ID:
C0265228
•
Disease or Syndrome
Synonyms: Fetal akinesia-hypokinesia sequence; Pena-Shokeir Syndrome
SNOMED CT: Fetal akinesia-hypokinesia sequence (401138005); Foetal akinesia-hypokinesia sequence (401138005)

Definition

An autosomal recessive inherited disorder. It is characterized by arthrogryposis, facial anomalies, polyhydramnios, camptodactyly, intrauterine growth retardation, and pulmonary hypoplasia. Pulmonary hypoplasia is present in the vast majority of cases and is often the fatal component of this syndrome. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFoetal akinesia-hypokinesia sequence

Recent clinical studies

Etiology

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Todd EJ, Yau KS, Ong R, Slee J, McGillivray G, Barnett CP, Haliloglu G, Talim B, Akcoren Z, Kariminejad A, Cairns A, Clarke NF, Freckmann ML, Romero NB, Williams D, Sewry CA, Colley A, Ryan MM, Kiraly-Borri C, Sivadorai P, Allcock RJ, Beeson D, Maxwell S, Davis MR, Laing NG, Ravenscroft G
Orphanet J Rare Dis 2015 Nov 17;10:148. doi: 10.1186/s13023-015-0364-0. PMID: 26578207Free PMC Article
Prenatal sonographic diagnosis of short umbilical cord in a dichorionic twin with normal fetal anatomy.
Sherer DM, Dalloul M, Ajayi O, Kheyman M, Sokolovski M, Abulafia O
J Clin Ultrasound 2010 Feb;38(2):91-3. doi: 10.1002/jcu.20639. PMID: 19802888
Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis.
Sztriha L, Al-Gazali LI, Várady E, Goebel HH, Nork M
Neuropediatrics 1999 Jun;30(3):141-5. doi: 10.1055/s-2007-973479. PMID: 10480209
Analysis of Pena Shokeir phenotype.
Hall JG
Am J Med Genet 1986 Sep;25(1):99-117. doi: 10.1002/ajmg.1320250112. PMID: 3541610

Diagnosis

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Todd EJ, Yau KS, Ong R, Slee J, McGillivray G, Barnett CP, Haliloglu G, Talim B, Akcoren Z, Kariminejad A, Cairns A, Clarke NF, Freckmann ML, Romero NB, Williams D, Sewry CA, Colley A, Ryan MM, Kiraly-Borri C, Sivadorai P, Allcock RJ, Beeson D, Maxwell S, Davis MR, Laing NG, Ravenscroft G
Orphanet J Rare Dis 2015 Nov 17;10:148. doi: 10.1186/s13023-015-0364-0. PMID: 26578207Free PMC Article
Prenatal sonographic diagnosis of short umbilical cord in a dichorionic twin with normal fetal anatomy.
Sherer DM, Dalloul M, Ajayi O, Kheyman M, Sokolovski M, Abulafia O
J Clin Ultrasound 2010 Feb;38(2):91-3. doi: 10.1002/jcu.20639. PMID: 19802888
Fetal akinesia-hypokinesia deformation sequence (FADS) in 2 siblings with congenital myotonic dystrophy.
Lidang Jensen M, Rix M, Schroder HD, Teglbjaerg PS, Ebbesen F
Clin Neuropathol 1995 Mar-Apr;14(2):105-8. PMID: 7606895
Fetal akinesia/hypokinesia sequence: prenatal diagnosis and intra-familial variability.
Bacino CA, Platt LD, Garber A, Carlson D, Pepkowitz S, Lachman RS, Sharony R, Rimoin DL, Graham JM Jr
Prenat Diagn 1993 Nov;13(11):1011-9. doi: 10.1002/pd.1970131102. PMID: 8140062
Analysis of Pena Shokeir phenotype.
Hall JG
Am J Med Genet 1986 Sep;25(1):99-117. doi: 10.1002/ajmg.1320250112. PMID: 3541610

Prognosis

Prenatal sonographic diagnosis of short umbilical cord in a dichorionic twin with normal fetal anatomy.
Sherer DM, Dalloul M, Ajayi O, Kheyman M, Sokolovski M, Abulafia O
J Clin Ultrasound 2010 Feb;38(2):91-3. doi: 10.1002/jcu.20639. PMID: 19802888
Autosomal recessive micrencephaly with simplified gyral pattern, abnormal myelination and arthrogryposis.
Sztriha L, Al-Gazali LI, Várady E, Goebel HH, Nork M
Neuropediatrics 1999 Jun;30(3):141-5. doi: 10.1055/s-2007-973479. PMID: 10480209
Lethal congenital muscular dystrophy in two sibs with arthrogryposis multiplex: new entity or variant of cobblestone lissencephaly syndrome?
Seidahmed MZ, Sunada Y, Ozo CO, Hamid F, Campbell KP, Salih MA
Neuropediatrics 1996 Dec;27(6):305-10. doi: 10.1055/s-2007-973799. PMID: 9050048

Clinical prediction guides

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Todd EJ, Yau KS, Ong R, Slee J, McGillivray G, Barnett CP, Haliloglu G, Talim B, Akcoren Z, Kariminejad A, Cairns A, Clarke NF, Freckmann ML, Romero NB, Williams D, Sewry CA, Colley A, Ryan MM, Kiraly-Borri C, Sivadorai P, Allcock RJ, Beeson D, Maxwell S, Davis MR, Laing NG, Ravenscroft G
Orphanet J Rare Dis 2015 Nov 17;10:148. doi: 10.1186/s13023-015-0364-0. PMID: 26578207Free PMC Article
Fetal akinesia-hypokinesia deformation sequence (FADS) in 2 siblings with congenital myotonic dystrophy.
Lidang Jensen M, Rix M, Schroder HD, Teglbjaerg PS, Ebbesen F
Clin Neuropathol 1995 Mar-Apr;14(2):105-8. PMID: 7606895

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