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Fetal akinesia deformation sequence 3(FADS3)

MedGen UID:
1680087
Concept ID:
C4760599
Disease or Syndrome
Synonym: DOK7-Related Fetal Akinesia Deformation Sequence
 
Gene (location): DOK7 (4p16.3)
 
Monarch Initiative: MONDO:0100103
OMIM®: 618389

Definition

The fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous constellation of features including fetal akinesia, intrauterine growth retardation, arthrogryposis, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism (Vogt et al., 2009). It shows phenotypic overlap with the lethal form of multiple pterygium syndrome (see 253290). For a general phenotypic description and a discussion of genetic heterogeneity of FADS, see 208150. [from OMIM]

Clinical features

From HPO
Congenital vertical talus
MedGen UID:
66821
Concept ID:
C0240912
Congenital Abnormality
Congenital vertical talus (CVT), also known as 'rocker-bottom foot' deformity, is a dislocation of the talonavicular joint characterized by vertical orientation of the talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence (summary by Levinsohn et al., 2004). The condition is transmitted in an autosomal dominant pattern of inheritance, and sometimes shows incomplete penetrance and variable expressivity. There may be a broad spectrum of deformities, including flatfoot, talipes equinovarus (TEV or clubfoot), cavus foot, metatarsus adductus, and even hypoplasia of the tibia (summary by Dobbs et al., 2006).
Talipes
MedGen UID:
220976
Concept ID:
C1301937
Congenital Abnormality
A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus.
Overlapping fingers
MedGen UID:
252954
Concept ID:
C1446712
Finding
A finger resting on the dorsal surface of an adjacent digit when the hand is at rest.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Generalized edema
MedGen UID:
376817
Concept ID:
C1850534
Pathologic Function
Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body.
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Fetal akinesia deformation sequence 1
MedGen UID:
220903
Concept ID:
C1276035
Disease or Syndrome
Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia).

Professional guidelines

PubMed

Hellmund A, Berg C, Geipel A, Müller A, Gembruch U
Arch Gynecol Obstet 2016 Oct;294(4):697-707. Epub 2016 Jan 29 doi: 10.1007/s00404-016-4017-x. PMID: 26825730
Mathijssen IB, Henneman L, van Eeten-Nijman JM, Lakeman P, Ottenheim CP, Redeker EJ, Ottenhof W, Meijers-Heijboer H, van Maarle MC
Eur J Med Genet 2015 Mar;58(3):123-8. Epub 2015 Jan 30 doi: 10.1016/j.ejmg.2015.01.004. PMID: 25641760
CECIL RL
J Miss State Med Assoc 1962 Aug;3:345-8. PMID: 13877588

Recent clinical studies

Etiology

Alkhunaizi E, Martin N, Jelin AC, Rosner M, Bailey DJ, Steiner LA, Lakhani S, Ji W, Katzman PJ, Forster KR, Jarinova O, Shannon P, Chitayat D; Care4Rare Canada Consortium
Am J Med Genet A 2023 Mar;191(3):760-769. Epub 2022 Dec 10 doi: 10.1002/ajmg.a.63071. PMID: 36495114Free PMC Article
Tjon JK, Tan-Sindhunata GM, Bugiani M, Witbreuk MM, van der Sluijs JA, Weiss MM, van de Pol LA, van Weissenbruch MM, van der Knoop BJ, de Vries JI
Prenat Diagn 2019 Feb;39(3):219-231. Epub 2019 Feb 7 doi: 10.1002/pd.5411. PMID: 30578734Free PMC Article
Hellmund A, Berg C, Geipel A, Müller A, Gembruch U
Arch Gynecol Obstet 2016 Oct;294(4):697-707. Epub 2016 Jan 29 doi: 10.1007/s00404-016-4017-x. PMID: 26825730
Witters I, Moerman P, Fryns JP
Am J Med Genet 2002 Nov 15;113(1):23-8. doi: 10.1002/ajmg.10698. PMID: 12400062
Hammond E, Donnenfeld AE
Obstet Gynecol Surv 1995 Mar;50(3):240-9. doi: 10.1097/00006254-199503000-00028. PMID: 7739837

Diagnosis

Alkhunaizi E, Martin N, Jelin AC, Rosner M, Bailey DJ, Steiner LA, Lakhani S, Ji W, Katzman PJ, Forster KR, Jarinova O, Shannon P, Chitayat D; Care4Rare Canada Consortium
Am J Med Genet A 2023 Mar;191(3):760-769. Epub 2022 Dec 10 doi: 10.1002/ajmg.a.63071. PMID: 36495114Free PMC Article
Nayak SS, Harkness R, Shukla A, Banka S, Newman WG, Girisha KM
Am J Med Genet A 2023 Mar;191(3):730-741. Epub 2022 Dec 7 doi: 10.1002/ajmg.a.63067. PMID: 36478354
Tjon JK, Tan-Sindhunata GM, Bugiani M, Witbreuk MM, van der Sluijs JA, Weiss MM, van de Pol LA, van Weissenbruch MM, van der Knoop BJ, de Vries JI
Prenat Diagn 2019 Feb;39(3):219-231. Epub 2019 Feb 7 doi: 10.1002/pd.5411. PMID: 30578734Free PMC Article
Hellmund A, Berg C, Geipel A, Müller A, Gembruch U
Arch Gynecol Obstet 2016 Oct;294(4):697-707. Epub 2016 Jan 29 doi: 10.1007/s00404-016-4017-x. PMID: 26825730
Hammond E, Donnenfeld AE
Obstet Gynecol Surv 1995 Mar;50(3):240-9. doi: 10.1097/00006254-199503000-00028. PMID: 7739837

Prognosis

Alkhunaizi E, Martin N, Jelin AC, Rosner M, Bailey DJ, Steiner LA, Lakhani S, Ji W, Katzman PJ, Forster KR, Jarinova O, Shannon P, Chitayat D; Care4Rare Canada Consortium
Am J Med Genet A 2023 Mar;191(3):760-769. Epub 2022 Dec 10 doi: 10.1002/ajmg.a.63071. PMID: 36495114Free PMC Article
Freed AS, Schwarz AC, Brei BK, Clowes Candadai SV, Thies J, Mah JK, Chabra S, Wang L, Innes AM, Bennett JT
Am J Med Genet A 2021 Mar;185(3):827-835. Epub 2020 Dec 9 doi: 10.1002/ajmg.a.62011. PMID: 33296147
Melo AS, Aguiar RS, Amorim MM, Arruda MB, Melo FO, Ribeiro ST, Batista AG, Ferreira T, Dos Santos MP, Sampaio VV, Moura SR, Rabello LP, Gonzaga CE, Malinger G, Ximenes R, de Oliveira-Szejnfeld PS, Tovar-Moll F, Chimelli L, Silveira PP, Delvechio R, Higa L, Campanati L, Nogueira RM, Filippis AM, Szejnfeld J, Voloch CM, Ferreira OC Jr, Brindeiro RM, Tanuri A
JAMA Neurol 2016 Dec 1;73(12):1407-1416. doi: 10.1001/jamaneurol.2016.3720. PMID: 27695855
Hoellen F, Schröer A, Kelling K, Krapp M, Axt-Fliedner R, Gembruch U, Weichert J
Fetal Diagn Ther 2011;30(4):289-98. Epub 2011 Dec 8 doi: 10.1159/000331401. PMID: 22156407
Hammond E, Donnenfeld AE
Obstet Gynecol Surv 1995 Mar;50(3):240-9. doi: 10.1097/00006254-199503000-00028. PMID: 7739837

Clinical prediction guides

Grotto S, Cuisset JM, Marret S, Drunat S, Faure P, Audebert-Bellanger S, Desguerre I, Flurin V, Grebille AG, Guerrot AM, Journel H, Morin G, Plessis G, Renolleau S, Roume J, Simon-Bouy B, Touraine R, Willems M, Frébourg T, Verspyck E, Saugier-Veber P
J Neuromuscul Dis 2016 Nov 29;3(4):487-495. doi: 10.3233/JND-160177. PMID: 27911332
Melo AS, Aguiar RS, Amorim MM, Arruda MB, Melo FO, Ribeiro ST, Batista AG, Ferreira T, Dos Santos MP, Sampaio VV, Moura SR, Rabello LP, Gonzaga CE, Malinger G, Ximenes R, de Oliveira-Szejnfeld PS, Tovar-Moll F, Chimelli L, Silveira PP, Delvechio R, Higa L, Campanati L, Nogueira RM, Filippis AM, Szejnfeld J, Voloch CM, Ferreira OC Jr, Brindeiro RM, Tanuri A
JAMA Neurol 2016 Dec 1;73(12):1407-1416. doi: 10.1001/jamaneurol.2016.3720. PMID: 27695855
Hellmund A, Berg C, Geipel A, Müller A, Gembruch U
Arch Gynecol Obstet 2016 Oct;294(4):697-707. Epub 2016 Jan 29 doi: 10.1007/s00404-016-4017-x. PMID: 26825730
Mulder EJ, Nikkels PG, Visser GH
Ultrasound Obstet Gynecol 2001 Sep;18(3):253-7. doi: 10.1046/j.1469-0705.2001.00422.x. PMID: 11555456

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