U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome

MedGen UID:
356961
Concept ID:
C1868390
Disease or Syndrome
Synonyms: Facioauriculoradial dysplasia; Phocomelia-ectrodactyly ear malformation deafness and sinus arrhythmia
SNOMED CT: Phocomelia, ectrodactyly, deafness and sinus arrhythmia syndrome (715506001); Stoll Lévy Francfort syndrome (715506001)
 
Monarch Initiative: MONDO:0008237
OMIM®: 171480
Orphanet: ORPHA2878

Definition

Rare syndrome with features of phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients from two unrelated families. [from SNOMEDCT_US]

Clinical features

From HPO
Genu varum
MedGen UID:
154257
Concept ID:
C0544755
Finding
A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.
Absent radius
MedGen UID:
235613
Concept ID:
C1405984
Congenital Abnormality
Missing radius bone associated with congenital failure of development.
Short humerus
MedGen UID:
316907
Concept ID:
C1832117
Congenital Abnormality
Underdevelopment of the humerus.
Fibular hypoplasia
MedGen UID:
316909
Concept ID:
C1832119
Finding
Underdevelopment of the fibula.
Mesomelic arm shortening
MedGen UID:
350587
Concept ID:
C1862087
Finding
Shortening of the middle parts of the arm in relation to the upper and terminal segments.
Ulnar bowing
MedGen UID:
356099
Concept ID:
C1865847
Finding
Bending of the diaphysis (shaft) of the ulna.
Short 2nd metacarpal
MedGen UID:
370004
Concept ID:
C1969397
Finding
Short second metacarpal bone because of developmental hypoplasia.
Split hand
MedGen UID:
397570
Concept ID:
C2699510
Congenital Abnormality
A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middel fingers as far as oligo- or monodactyl hands.
Aplasia/Hypoplasia of the thumb
MedGen UID:
465975
Concept ID:
C3179508
Finding
Hypoplastic/small or absent thumb.
Cardiac arrhythmia
MedGen UID:
2039
Concept ID:
C0003811
Finding
Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Conductive hearing impairment
MedGen UID:
9163
Concept ID:
C0018777
Disease or Syndrome
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
Microtia
MedGen UID:
57535
Concept ID:
C0152423
Congenital Abnormality
Underdevelopment of the external ear.
Stenosis of the external auditory canal
MedGen UID:
140758
Concept ID:
C0395837
Finding
An abnormal narrowing of the external auditory canal.
Phocomelia
MedGen UID:
10721
Concept ID:
C0031575
Congenital Abnormality
Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).
Shoulder dislocation
MedGen UID:
48655
Concept ID:
C0037005
Injury or Poisoning
A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation.
Radioulnar synostosis
MedGen UID:
57861
Concept ID:
C0158761
Congenital Abnormality
An abnormal osseous union (fusion) between the radius and the ulna.
Lateral clavicle hook
MedGen UID:
98426
Concept ID:
C0426805
Finding
An excessive upward convexity of the lateral clavicle.
Long clavicles
MedGen UID:
96530
Concept ID:
C0426808
Finding
Increased length of the clavicles.
Malar flattening
MedGen UID:
347616
Concept ID:
C1858085
Finding
Underdevelopment of the malar prominence of the jugal bone (zygomatic bone in mammals), appreciated in profile, frontal view, and/or by palpation.
Anterior vertebral fusion
MedGen UID:
409820
Concept ID:
C1969393
Finding
Asymmetric radial dysplasia
MedGen UID:
370003
Concept ID:
C1969396
Finding
The presence of asymmetric developmental dysplasia of the radius.
Elbow dislocation
MedGen UID:
404765
Concept ID:
C2720437
Injury or Poisoning
Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet.
Downslanted palpebral fissures
MedGen UID:
98391
Concept ID:
C0423110
Finding
The palpebral fissure inclination is more than two standard deviations below the mean.
Midface retrusion
MedGen UID:
339938
Concept ID:
C1853242
Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPhocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
Follow this link to review classifications for Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome in Orphanet.

Professional guidelines

PubMed

Joglar JA, Chung MK, Armbruster AL, Benjamin EJ, Chyou JY, Cronin EM, Deswal A, Eckhardt LL, Goldberger ZD, Gopinathannair R, Gorenek B, Hess PL, Hlatky M, Hogan G, Ibeh C, Indik JH, Kido K, Kusumoto F, Link MS, Linta KT, Marcus GM, McCarthy PM, Patel N, Patton KK, Perez MV, Piccini JP, Russo AM, Sanders P, Streur MM, Thomas KL, Times S, Tisdale JE, Valente AM, Van Wagoner DR
Circulation 2024 Jan 2;149(1):e1-e156. Epub 2023 Nov 30 doi: 10.1161/CIR.0000000000001193. PMID: 38033089
January CT, Wann LS, Calkins H, Chen LY, Cigarroa JE, Cleveland JC Jr, Ellinor PT, Ezekowitz MD, Field ME, Furie KL, Heidenreich PA, Murray KT, Shea JB, Tracy CM, Yancy CW
Circulation 2019 Jul 9;140(2):e125-e151. Epub 2019 Jan 28 doi: 10.1161/CIR.0000000000000665. PMID: 30686041
Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA, Shieh PB, Tawil RN, Trivedi J, Cannon SC, Griggs RC
Muscle Nerve 2018 Apr;57(4):522-530. Epub 2017 Nov 29 doi: 10.1002/mus.26009. PMID: 29125635Free PMC Article

Recent clinical studies

Etiology

Joglar JA, Kapa S, Saarel EV, Dubin AM, Gorenek B, Hameed AB, Lara de Melo S, Leal MA, Mondésert B, Pacheco LD, Robinson MR, Sarkozy A, Silversides CK, Spears D, Srinivas SK, Strasburger JF, Tedrow UB, Wright JM, Zelop CM, Zentner D
Heart Rhythm 2023 Oct;20(10):e175-e264. Epub 2023 May 19 doi: 10.1016/j.hrthm.2023.05.017. PMID: 37211147
Bezzerides VJ, Prondzynski M, Carrier L, Pu WT
Cardiovasc Res 2020 Jul 15;116(9):1635-1650. doi: 10.1093/cvr/cvaa107. PMID: 32321160Free PMC Article
Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, Blom N, Brugada J, Chiang CE, Huikuri H, Kannankeril P, Krahn A, Leenhardt A, Moss A, Schwartz PJ, Shimizu W, Tomaselli G, Tracy C
Heart Rhythm 2013 Dec;10(12):1932-63. Epub 2013 Aug 30 doi: 10.1016/j.hrthm.2013.05.014. PMID: 24011539
Khan FY
Neth J Med 2009 Oct;67(9):272-83. PMID: 19841484
Brugada P, Brugada J
J Am Coll Cardiol 1992 Nov 15;20(6):1391-6. doi: 10.1016/0735-1097(92)90253-j. PMID: 1309182

Diagnosis

Krahn AD, Tfelt-Hansen J, Tadros R, Steinberg C, Semsarian C, Han HC
JACC Clin Electrophysiol 2022 Jun;8(6):806-821. doi: 10.1016/j.jacep.2021.12.014. PMID: 35738861
Jaeggi E, Öhman A
Clin Perinatol 2016 Mar;43(1):99-112. doi: 10.1016/j.clp.2015.11.007. PMID: 26876124
Fu DG
Cell Biochem Biophys 2015 Nov;73(2):291-296. doi: 10.1007/s12013-015-0626-4. PMID: 25737133
Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, Blom N, Brugada J, Chiang CE, Huikuri H, Kannankeril P, Krahn A, Leenhardt A, Moss A, Schwartz PJ, Shimizu W, Tomaselli G, Tracy C
Heart Rhythm 2013 Dec;10(12):1932-63. Epub 2013 Aug 30 doi: 10.1016/j.hrthm.2013.05.014. PMID: 24011539
Khan FY
Neth J Med 2009 Oct;67(9):272-83. PMID: 19841484

Therapy

Joglar JA, Kapa S, Saarel EV, Dubin AM, Gorenek B, Hameed AB, Lara de Melo S, Leal MA, Mondésert B, Pacheco LD, Robinson MR, Sarkozy A, Silversides CK, Spears D, Srinivas SK, Strasburger JF, Tedrow UB, Wright JM, Zelop CM, Zentner D
Heart Rhythm 2023 Oct;20(10):e175-e264. Epub 2023 May 19 doi: 10.1016/j.hrthm.2023.05.017. PMID: 37211147
Bezzerides VJ, Prondzynski M, Carrier L, Pu WT
Cardiovasc Res 2020 Jul 15;116(9):1635-1650. doi: 10.1093/cvr/cvaa107. PMID: 32321160Free PMC Article
Jaeggi E, Öhman A
Clin Perinatol 2016 Mar;43(1):99-112. doi: 10.1016/j.clp.2015.11.007. PMID: 26876124
Fu DG
Cell Biochem Biophys 2015 Nov;73(2):291-296. doi: 10.1007/s12013-015-0626-4. PMID: 25737133
Shen MJ, Zipes DP
Circ Res 2014 Mar 14;114(6):1004-21. doi: 10.1161/CIRCRESAHA.113.302549. PMID: 24625726

Prognosis

Kim YG, Oh SK, Choi HY, Choi JI
Korean J Intern Med 2021 May;36(3):527-538. Epub 2021 Mar 26 doi: 10.3904/kjim.2020.481. PMID: 33092314Free PMC Article
Bhatla A, Mayer MM, Adusumalli S, Hyman MC, Oh E, Tierney A, Moss J, Chahal AA, Anesi G, Denduluri S, Domenico CM, Arkles J, Abella BS, Bullinga JR, Callans DJ, Dixit S, Epstein AE, Frankel DS, Garcia FC, Kumareswaram R, Nazarian S, Riley MP, Santangeli P, Schaller RD, Supple GE, Lin D, Marchlinski F, Deo R
Heart Rhythm 2020 Sep;17(9):1439-1444. Epub 2020 Jun 22 doi: 10.1016/j.hrthm.2020.06.016. PMID: 32585191Free PMC Article
Fox H, Bitter T, Horstkotte D, Oldenburg O
Sleep Med Clin 2017 Jun;12(2):229-241. Epub 2017 Mar 9 doi: 10.1016/j.jsmc.2017.01.003. PMID: 28477777
Patel N, Donahue C, Shenoy A, Patel A, El-Sherif N
Int J Cardiol 2017 Feb 1;228:967-970. Epub 2016 Nov 9 doi: 10.1016/j.ijcard.2016.11.137. PMID: 27914359
Hayashi M, Shimizu W, Albert CM
Circ Res 2015 Jun 5;116(12):1887-906. doi: 10.1161/CIRCRESAHA.116.304521. PMID: 26044246Free PMC Article

Clinical prediction guides

Deitch AM, Giacone HM, Chubb H, Algaze CA, Lechich KM, Collins RT
Am J Cardiol 2023 May 15;195:91-97. Epub 2023 Apr 8 doi: 10.1016/j.amjcard.2023.03.004. PMID: 37037070
Strasburger JF, Eckstein G, Butler M, Noffke P, Wacker-Gussmann A
J Clin Pharmacol 2022 Sep;62 Suppl 1(Suppl 1):S53-S66. doi: 10.1002/jcph.2129. PMID: 36106782Free PMC Article
Marsman EMJ, Postema PG, Remme CA
Heart 2022 May;108(9):668-675. Epub 2021 Oct 14 doi: 10.1136/heartjnl-2020-318258. PMID: 34649929
Sandau KE, Funk M, Auerbach A, Barsness GW, Blum K, Cvach M, Lampert R, May JL, McDaniel GM, Perez MV, Sendelbach S, Sommargren CE, Wang PJ; American Heart Association Council on Cardiovascular and Stroke Nursing; Council on Clinical Cardiology; and Council on Cardiovascular Disease in the Young
Circulation 2017 Nov 7;136(19):e273-e344. Epub 2017 Oct 3 doi: 10.1161/CIR.0000000000000527. PMID: 28974521
Brugada R, Campuzano O, Sarquella-Brugada G, Brugada J, Brugada P
Methodist Debakey Cardiovasc J 2014 Jan-Mar;10(1):25-8. doi: 10.14797/mdcj-10-1-25. PMID: 24932359Free PMC Article

Recent systematic reviews

Cozma A, Sporis ND, Lazar AL, Buruiana A, Ganea AM, Malinescu TV, Berechet BM, Fodor A, Sitar-Taut AV, Vlad VC, Negrean V, Orasan OH
Int J Mol Sci 2022 Sep 19;23(18) doi: 10.3390/ijms231810948. PMID: 36142866Free PMC Article
Cheng CY, Baritussio A, Giordani AS, Iliceto S, Marcolongo R, Caforio ALP
Autoimmun Rev 2022 Apr;21(4):103037. Epub 2022 Jan 5 doi: 10.1016/j.autrev.2022.103037. PMID: 34995763
Galić E, Bešlić P, Kilić P, Planinić Z, Pašalić A, Galić I, Ćubela VV, Pekić P
Acta Clin Croat 2021 Dec;60(4):739-748. doi: 10.20471/acc.2021.60.04.22. PMID: 35734489Free PMC Article
Beach SR, Gross AF, Hartney KE, Taylor JB, Rundell JR
Gen Hosp Psychiatry 2020 Nov-Dec;67:42-50. Epub 2020 Aug 22 doi: 10.1016/j.genhosppsych.2020.08.008. PMID: 32979582
Society for Maternal-Fetal Medicine (SMFM), Norton ME, Chauhan SP, Dashe JS
Am J Obstet Gynecol 2015 Feb;212(2):127-39. Epub 2014 Dec 31 doi: 10.1016/j.ajog.2014.12.018. PMID: 25557883

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...