Poland Syndrome

Alternative Names

  • Poland Syndactyly
  • Poland Anomaly
  • Poland Sequence
  • Pectoralis Muscle, Absence of
  • Unilateral Defect of Pectoralis Muscle and Syndactyly of the Hand
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

173800

Mode of Inheritance

Autosomal dominant

Description

Poland syndrome, also known as Poland sequence or Poland anomaly, consists of many distinctive features. The most prominent among them are ipsilateral hand anomalies chiefly in the form of syndactyly along with absence of pectorals.

Poland syndrome was first described by Alfred Poland in 1841 and includes partial or complete absence of pectoralis along with ipsilateral hand anomalies, ranging from mild defects to severe bony abnormalities. In some cases other associated anomalies, including renal malformations, dextrocardia, and vertebral abnormalities, have been reported.

The incidence rate of the disease ranges from 1:20,000 to 1:50,000 live births. The right side of the body is affected three times more frequently than the left and it is more common in males than in females. The exact etiology of Poland's syndrome is unknown. The theory put forth is interruption of early embryonic blood supply to subclavian arteries, the vertebral arteries and or their branches. A combination of the blockade of various branches could lead to Poland syndrome along with its variants. These vascular disruptions could also lead to its relation with syndromes like Sprengel, Klippel-Fiel and Adams-Oliver syndrome. The inheritance can be autosomal dominant; however variable expressivity and reduced penetrance is usually present.

The gene predisposing to Poland syndrome follows an autosomal dominant pattern of inheritance. There are several cases in the literature demonstrating various types of transmission including father-to-son and mother-to-daughter patterns.

Epidemiology in the Arab World

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Other Reports

Jordan

[See: Kuwait > Sabry et al., 1995].

Kuwait

In 1994, Sabry published a review of a period stretching for 15 years regarding recorded cases of Poland syndrome in Kuwait. This study corroborated previously published literature in terms of male sex predisposition, right-sided predominance and the presence of dextrocardia in left-sided cases. One year later, Sabry et al. (1995) reported on 13 unrelated sporadic cases of Poland syndrome that were observed at the Kuwait Medical Genetics Center (KMGC) throughout the period of 15 years (January 1979 to December 1993). The cohort consisted of 10 males (77%) and 3 females (23%) comprising seven Kuwaitis, three Bedouins, one Jordanian, one Yemeni, and one of non-Arab origin (Pakistani), with eight PS cases (62%) demonstrating parental consanguinity. Right sided (Rt) PS was found in eight patients (62%) whilst five cases were found to be left (Lt) sided PS and of those two were found to be correlated with dextrocardia and one correlated with scalp hemangioma. The first Lt PS case associated with dextrocardia presented a Kuwaiti male born to first cousin Kuwaiti parents. His mother suffered from an ectopic pregnancy, a hydatidiform mole and a history of diffuse goiter as a result of lymphocytic thyroiditis with euthyroid function. The patient's maternal aunt experienced two pregnancies with hydatidiform mole whereas a paternal aunt gave birth to a child having neural tube defects. The second case represented a Kuwaiti male born to double first cousin Kuwaiti parents. His mother held a history of an earlier spontaneous abortion and a further living child with congenital heart disease. Dextrocardia was confirmed in both patients through ECG and x-ray and they both revealed the absence of sternocostal head of left pectoralis major muscle with associated ipsilateral rib defects. Sabry et al. (1995) demonstrated that the studied cases backed up previous findings of male predilection, right-sided predominance, and the correlation of left-sided involvement with dextrocardia.

[Sabry MA. Poland syndrome and associated dextrocardia in Kuwait. Med Princ Pract. 1994; 4(3):121-26.]

[Sabry MA, Al Awadi SA, El-Alfi A, Goudah SA, Kazi NA, Farag TI. Poland syndrome and associated dextrocardia in Kuwait. Med Pri Prac 1994-95; 4:121-6.]

Saudi Arabia

Ahmed and Nwoku (1997) reported a case of jaw deformity in association with right-sided Poland anomaly in an 18-year-old male patient.

Al-Qattan (2001) performed a review of 20 patients (12 males, and eight females), with Poland Syndrome.  None of them had any history of limb or pectoral defects.  The cases were classified into the new classification system of seven classes.  Three of the female patients presented with a normal hand, with hypoplasia of the sternocostal head of the pectoralis major and ipsilateral breast hypoplasia (Type I).  One patient (a child) presented with a form fruste (Type II) hand deformity, which required no treatment.  Most of the patients (10) were classified into the Type III, all with simple brachysydactyly.  Eight of these patients had mild to moderate hand hypoplasia, while the remaining two showed severe hypoplasia.  All patients in this group also had hypoplasia or aplasia of the middle phalanges of the fingers; the proportion of severity of which was proportional to the extent of shortening of the finger.  All patients in this group received surgical correction, restoring good functional status.  Three of the patients fell under the Type IV class.  One of them had an adactyly of the index accompanied with a hypoplastic limb and an elevated spatula, whereas the other two presented with a cleft hand.  Two patients were classified as Type V, where all digits were either functionless or absent.  The patients were offered toe-to-hand transfers, which was refused by the parents.  Transverse Deficiency proximal to the metacarpophalageal joints was seen in one patients (Type VI).  Phocomelia-like deficiency (Type VII) was not seen in any of the patients.  Over a period of 10 years, Al-Qattan and Al Thunayan (2005) investigated the abnormalities of the middle phalanx in a series of 15 patients with Poland syndrome.  There were 10 males and 5 females, aged between 0.5 to 16 years.  The degree of hand hypoplasia and finger brachydactyly was classified into 3 grades.  Grade 1 (n = 2): mild hand hypoplasia with mild brachydactyly of all fingers, grade 2 (n = 10): moderate hand hypoplasia with moderate to severebrachydactyly of all fingers, and grade 3 (n = 3): severe hand hypoplasia with severebrachydactyly of all fingers.  Two patients were grade 1, 10 patients were grade 2, and three patients were grade 3.  The middle phalanges of all fingers in all patients showed abnormalities.  The degree of deficiency in the middle phalanx (from mild hypoplasia to aplasia) correlated with the degree of brachydactyly, which in turn correlated with the degree of hand hypoplasia.  Several other radiologic features of the hypoplastic middle phalanges were documented, such as the central nidus, the rounded or truncated appearance, and the cone-shaped epiphyses. Al-Qattan and Al Thunayan (2005) also reviewed the embryology of limb development and proposed that abnormalities of the middle phalanx in Poland syndrome occur as a result of a mild ischemic insult during stage 19 of the embryonic life, leading to an arrest or lack of chondrification of the mesenchymal mass of the phalanx.

United Arab Emirates

Hosani and Czeizel (2000) evaluated the pilot dataset [March-May 1998] of the UAE National Congenital Abnormality Registry (NCAR). A total of 4,861 births were recorded in this study period, with a birth prevalence of total congenital anomalies being 30.3/1,000 births. Poland sequence was identified in one neonate, resulting in an incidence rate of 0.21/1,000 births.

Yemen

[See: Kuwait > Sabry et al., 1995].

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