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Poland anomaly

MedGen UID:
10822
Concept ID:
C0032357
Disease or Syndrome
Synonyms: Poland sequence; Poland syndactyly; Poland syndrome; Poland's syndrome; Unilateral defect of pectoralis muscle and syndactyly of the hand
SNOMED CT: Poland syndrome (38371006); Poland anomaly (38371006); Poland anomalad (38371006); Unilateral defect of pectoralis muscle AND syndactyly of hand (38371006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Non-Mendelian inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0008262
OMIM®: 173800
Orphanet: ORPHA2911

Definition

Poland syndrome consists of unilateral absence or hypoplasia of the pectoralis muscle, most frequently involving the sternocostal portion of the pectoralis major muscle, and a variable degree of ipsilateral hand and digit anomalies, including symbrachydactyly. Sometimes called Poland sequence, it was first described by Poland (1841). Poland syndrome is most commonly a sporadic condition (David, 1982; Opitz, 1982), but familial cases have been reported. [from OMIM]

Clinical features

From HPO
Syndactyly
MedGen UID:
52619
Concept ID:
C0039075
Congenital Abnormality
Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".
Unilateral brachydactyly
MedGen UID:
357435
Concept ID:
C1868164
Finding
Unilateral oligodactyly
MedGen UID:
812191
Concept ID:
C3805861
Finding
Dextrocardia
MedGen UID:
4255
Concept ID:
C0011813
Congenital Abnormality
The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left.
Congenital elevation of scapula
MedGen UID:
56291
Concept ID:
C0152438
Congenital Abnormality
A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other).
Hemivertebrae
MedGen UID:
82720
Concept ID:
C0265677
Congenital Abnormality
Absence of one half of the vertebral body.
Rib fusion
MedGen UID:
78570
Concept ID:
C0265695
Congenital Abnormality
Complete or partial merging of adjacent ribs.
Short ribs
MedGen UID:
98094
Concept ID:
C0426817
Finding
Reduced rib length.
Absence of pectoralis minor muscle
MedGen UID:
401383
Concept ID:
C1868158
Finding
Aplasia (congenital absence) of the pectoralis minor.
Hypoplasia of serratus anterior muscle
MedGen UID:
357438
Concept ID:
C1868167
Finding
Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula.
Hypoplasia of deltoid muscle
MedGen UID:
357440
Concept ID:
C1868170
Finding
Underdevelopment of the deltoid muscle.
Hypoplasia of latissimus dorsi muscle
MedGen UID:
812190
Concept ID:
C3805860
Finding
Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula.
Unilateral absence of pectoralis major muscle
MedGen UID:
867278
Concept ID:
C4021639
Finding
Aplasia (congenital absence) of the pectoralis minor on only one side of the chest.
Unilateral hypoplasia of pectoralis major muscle
MedGen UID:
868704
Concept ID:
C4023107
Anatomical Abnormality
Hypoplasia (underdevelopment) of the pectoralis minor on only one side of the chest.
Abnormality of the breast
MedGen UID:
871338
Concept ID:
C4025829
Anatomical Abnormality
An abnormality of the breast.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Poland anomaly
Follow this link to review classifications for Poland anomaly in Orphanet.

Professional guidelines

PubMed

O'Keefe D, Kennedy J, McCombe D, Coombs C, Hui L, Wilks D, Halliday J
J Paediatr Child Health 2022 Jan;58(1):122-128. Epub 2021 Aug 3 doi: 10.1111/jpc.15673. PMID: 34343375

Recent clinical studies

Etiology

O'Keefe D, Kennedy J, McCombe D, Coombs C, Hui L, Wilks D, Halliday J
J Paediatr Child Health 2022 Jan;58(1):122-128. Epub 2021 Aug 3 doi: 10.1111/jpc.15673. PMID: 34343375
Catena N, Divizia MT, Calevo MG, Baban A, Torre M, Ravazzolo R, Lerone M, Sénès FM
J Pediatr Orthop 2012 Oct-Nov;32(7):727-31. doi: 10.1097/BPO.0b013e318269c898. PMID: 22955538
Baban A, Torre M, Costanzo S, Gimelli S, Bianca S, Divizia MT, Sénès FM, Garavelli L, Rivieri F, Lerone M, Valle M, Ravazzolo R, Calevo MG
Am J Med Genet A 2012 Jan;158A(1):140-9. Epub 2011 Nov 22 doi: 10.1002/ajmg.a.34370. PMID: 22110015
Dalal AB, Phadke SR, Pradhan M, Sharda S
Indian J Pediatr 2006 Jul;73(7):609-15. doi: 10.1007/BF02759927. PMID: 16877856
David TJ
J Med Genet 1982 Aug;19(4):293-6. doi: 10.1136/jmg.19.4.293. PMID: 6288948Free PMC Article

Diagnosis

Holmes LB, Nasri HZ
Am J Med Genet A 2022 Nov;188(11):3236-3241. Epub 2022 Sep 8 doi: 10.1002/ajmg.a.62941. PMID: 36073773
O'Keefe D, Kennedy J, McCombe D, Coombs C, Hui L, Wilks D, Halliday J
J Paediatr Child Health 2022 Jan;58(1):122-128. Epub 2021 Aug 3 doi: 10.1111/jpc.15673. PMID: 34343375
Buckwalter V JA, Shah AS
Hand (N Y) 2016 Dec;11(4):389-395. Epub 2016 Oct 10 doi: 10.1177/1558944716647355. PMID: 28149203Free PMC Article
Baban A, Torre M, Costanzo S, Gimelli S, Bianca S, Divizia MT, Sénès FM, Garavelli L, Rivieri F, Lerone M, Valle M, Ravazzolo R, Calevo MG
Am J Med Genet A 2012 Jan;158A(1):140-9. Epub 2011 Nov 22 doi: 10.1002/ajmg.a.34370. PMID: 22110015
Dalal AB, Phadke SR, Pradhan M, Sharda S
Indian J Pediatr 2006 Jul;73(7):609-15. doi: 10.1007/BF02759927. PMID: 16877856

Therapy

Eidlitz-Markus T, Mukamel M, Haimi-Cohen Y, Amir J, Zeharia A
Isr Med Assoc J 2010 Apr;12(4):203-6. PMID: 20803877
Chen CP, Liu FF, Jan SW, Lin SP, Lan CC
Am J Med Genet 1996 Jun 14;63(3):447-53. doi: 10.1002/(SICI)1096-8628(19960614)63:3<447::AID-AJMG6>3.0.CO;2-O. PMID: 8737650
Avrech OM, Merlob P, Neri A, Kaplan B, Ovadia J, Fisch B
Fertil Steril 1994 Dec;62(6):1268-70. doi: 10.1016/s0015-0282(16)57198-2. PMID: 7957997
David TJ
Arch Dis Child 1982 Jun;57(6):479-80. doi: 10.1136/adc.57.6.479. PMID: 7092316Free PMC Article
David TJ
N Engl J Med 1972 Sep 7;287(10):487-9. doi: 10.1056/NEJM197209072871004. PMID: 4340236

Prognosis

Pedersen LK, Maimburg RD, Hertz JM, Gjørup H, Pedersen TK, Møller-Madsen B, Østergaard JR
Orphanet J Rare Dis 2017 Jan 6;12(1):4. doi: 10.1186/s13023-016-0559-z. PMID: 28061881Free PMC Article
Matsui K, Kataoka A, Yamamoto A, Tanoue K, Kurosawa K, Shibasaki J, Ohyama M, Aida N
Pediatr Neurol 2014 Dec;51(6):781-9. Epub 2014 Aug 27 doi: 10.1016/j.pediatrneurol.2014.08.011. PMID: 25306435
Chalak LF, Parham DM
Pediatr Dev Pathol 2007 Mar-Apr;10(2):134-7. doi: 10.2350/06-04-00801.1. PMID: 17378683
Merks JH, Caron HN, Hennekam RC
Am J Med Genet A 2005 Apr 15;134A(2):132-43. doi: 10.1002/ajmg.a.30603. PMID: 15712196
Strömland K, Sjögreen L, Miller M, Gillberg C, Wentz E, Johansson M, Nylén O, Danielsson A, Jacobsson C, Andersson J, Fernell E
Eur J Paediatr Neurol 2002;6(1):35-45. doi: 10.1053/ejpn.2001.0540. PMID: 11993954

Clinical prediction guides

Pedersen LK, Maimburg RD, Hertz JM, Gjørup H, Pedersen TK, Møller-Madsen B, Østergaard JR
Orphanet J Rare Dis 2017 Jan 6;12(1):4. doi: 10.1186/s13023-016-0559-z. PMID: 28061881Free PMC Article
Matsui K, Kataoka A, Yamamoto A, Tanoue K, Kurosawa K, Shibasaki J, Ohyama M, Aida N
Pediatr Neurol 2014 Dec;51(6):781-9. Epub 2014 Aug 27 doi: 10.1016/j.pediatrneurol.2014.08.011. PMID: 25306435
Catena N, Divizia MT, Calevo MG, Baban A, Torre M, Ravazzolo R, Lerone M, Sénès FM
J Pediatr Orthop 2012 Oct-Nov;32(7):727-31. doi: 10.1097/BPO.0b013e318269c898. PMID: 22955538
Strömland K, Sjögreen L, Miller M, Gillberg C, Wentz E, Johansson M, Nylén O, Danielsson A, Jacobsson C, Andersson J, Fernell E
Eur J Paediatr Neurol 2002;6(1):35-45. doi: 10.1053/ejpn.2001.0540. PMID: 11993954
Miller MT, Strömland K
J AAPOS 1999 Aug;3(4):199-208. doi: 10.1016/s1091-8531(99)70003-0. PMID: 10477221

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