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Burden of congenital and hereditary anomalies in the war-affected territory at Pakistan–Afghanistan border

Muhammad Naeem
Muhammad Naeem
, 
Bashir Ahmad
Bashir Ahmad
 e 
Sajid Malik
Sajid Malik
   | 01 ago 2023
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Article Category: Original article
Pubblicato online: 01 ago 2023
Pagine: 299 - 309
DOI: https://doi.org/10.2478/abm-2022-2033
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© 2023 Muhammad Naeem et al., published by Sciendo
This work is licensed under the Creative Commons Attribution 4.0 International License.

Figure 1.

Map of Pakistan showing major provincial divisions (A) with a zoom-in map of FATA (B) depicting 7 districts from north to south: 1. Bajaur; 2. Mohmand; 3. Khyber; 4. Orakzai; 5. Kurram; 6. North Waziristan; and 7. South Waziristan. Data were collected from 4 northern districts (1–4) (modified from the source: https://worldmapblank.com/blank-map-of-pakistan/). FATA, Federally Administered Tribal Areas.
Map of Pakistan showing major provincial divisions (A) with a zoom-in map of FATA (B) depicting 7 districts from north to south: 1. Bajaur; 2. Mohmand; 3. Khyber; 4. Orakzai; 5. Kurram; 6. North Waziristan; and 7. South Waziristan. Data were collected from 4 northern districts (1–4) (modified from the source: https://worldmapblank.com/blank-map-of-pakistan/). FATA, Federally Administered Tribal Areas.

Distribution of major categories of anomalies with respect to familial or sporadic nature, isolated or syndromic presentations, and parental consanguinity

Anomaly type Total Familial or sporadic nature* Isolated or syndromic* Parental marriage type*
N % Sporadic Familial Isolated Syndromic Consanguineous Nonconsanguineous
Neurological disorders 100 27.7 83 17 49 51 26 74
Sensorineural defects 70 19.4 48 22 63 7 33 37
Limb defects 60 16.6 51 9 52 8 14 46
Eye or visual impairments 55 15.2 46 9 48 7 18 37
Musculoskeletal defects 37 10.2 29 8 29 8 16 21
Ectodermal anomalies 13 3.6 4 9 8 5 7 6
Blood disorders 12 3.3 2 10 12 0 6 6
Others 14 3.9 13 1 14 0 3 11
Total N (%) 361 (100) 100 276 (76) 85 (24) 275 (76) 86 (24) 123 (34) 238 (66)

Syndromic cases with a combination of associated anomalies

Major anomaly Associated anomaly
Deaf–mute Eye or visual impairments Cerebral palsy Epilepsy Growth retardation Polydactyly Club foot Oligodactyly Contracture Syndactyly Others Total
Neurological disorders 30 8 7 1 2 48
Sensorineural defects 1 1 5 7
Limb defects 1 2 2 2 2 9
Eye or visual impairments 2 5 1 1 9
Musculoskeletal defects 2 2 1 3 8
Ectodermal defects 1 2 3
Others 1 1
Total 35 16 7 1 2 1 3 2 2 1 15 85

Distribution of major categories of anomalies with respect to gender of index cases and total affected individuals in all families

Anomaly type Total Index individual Total affected in all families
N % Male Female Males Females Total
Neurological disorders 100 27.7 79 21 42 25 67
Sensorineural defects 70 19.4 48 22 51 30 81
Limb defects 60 16.6 41 19 58 22 80
Eye or visual impairments 55 15.2 46 9 54 25 79
Musculoskeletal defects 37 10.2 26 11 46 22 68
Ectodermal anomalies 13 3.6 6 7 89 51 140
Blood disorders 12 3.3 11 1 53 30 83
Others 14 3.9 10 4 10 5 15
Total N (%) 361 (100) 100 267 (74) 94 (23) 403 (66) 210 (34) 613 (100)

Demographic attributes of recruited individuals

Variable Male Female Total
N % N % N %
Age range (years)*
  Up to 9 99 37.1 57 60.6 156 43.2
  >9–19 110 41.2 29 30.9 139 38.5
  >19 58 21.7 8 8.5 66 18.3
  Total 267 100.0 94 100.0 361 100.0
Origin*
  Rural 226 84.6 78 83.0 304 84.2
  Urban 41 15.4 16 17.0 57 15.8
Caste system
  Masozai 120 44.9 50 53.2 170 47.1
  Tarkalani 49 18.4 18 19.1 67 18.6
  Afridi 26 9.7 2 2.1 28 7.8
  Uthman Khel 16 6.0 4 4.3 20 5.5
  Others 56 21.0 20 21.3 76 21.1
Literacy level (age >5 years)
  Illiterate 127 55.9 46 64.8 173 58.1
  Literate 100 44.1 25 35.2 125 41.9
Family type
  Nuclear 215 80.5 73 77.7 288 79.8
  Extended or joint 52 19.5 21 22.3 73 20.2

Major and minor categories of anomalies, proportions, and classification

Anomalies (major or minor) N Proportion 95% CI ICD-10 OMIM
Neurological disorders 100 0.277 0.231–0.323
ID – all 58 0.161 0.123–0.199
ID – mild 27 0.075 0.048–0.102 F70 249500
ID – moderate 18 0.050 0.027–0.072 F71
ID – severe or profound 13 0.036 0.017–0.055 F72, F73 611091
Cerebral palsy 16 0.044 0.023–0.066 G80.9 605388
Down syndrome 11 0.030 0.013–0.048 Q90.9 190685
Epilepsy 6 0.017 0.003–0.030 G40 607208
Neuropathy 3 0.008 −0.001 to 0.018 G60 605253
Alzheimer disease 1 0.003 −0.003 to 0.008 F00.1 104300
Microcephaly 1 0.003 −0.003 to 0.008 Q02 251200
Multiple sclerosis 1 0.003 −0.003 to 0.008 G35 126200
Spastic paraplegia 1 0.003 −0.003 to 0.008 G82.1 182600
Spina bifida 1 0.003 −0.003 to 0.008 Q05 182940
Tremor 1 0.003 −0.003 to 0.008 G25.0 190300
Sensorineural defects 70 0.194 0.153–0.235
Deaf–mute 48 0.133 0.098–0.168 H90 304500
Mute only 19 0.053 0.030–0.076 R47.0
Stuttering 3 0.008 −0.001 to 0.018 F98.5 184450
Limb defects 60 0.166 0.128–0.205
Talipes or clubfoot 13 0.036 0.017–0.055 Q66.9 119800
Limb amputations 12 0.033 0.015–0.052 Q73.8 217100
Polydactyly (poly.; all) 8 0.022 0.007–0.037
Poly., preaxial type I 4 0.011 0.000–0.022 Q69.1 174400
Poly., postaxial type A 3 0.008 −0.001 to 0.018 Q69.0;Q69.2 174200
Poly., postaxial type B 1 0.003 −0.003 to 0.008 Q69.0;Q69.2 174200
Syndactyly (synd.; all) 8 0.022 0.007–0.037
Synd., type 1c 3 0.008 −0.001 to 0.018 Q70.1
Synd., type 1a 2 0.006 −0.002 to 0.013 Q70.3 609815
Synd., type II 2 0.006 −0.002 to 0.013 Q70.4 186000
Synd., type 1d 1 0.003 −0.003 to 0.008 Q70.2
Contractures 5 0.014 0.002–0.026 M21.8 259450
Brachydactyly, 4th toe 2 0.006 −0.002 to 0.013 Q72.8 113475
Oligodactyly 2 0.006 −0.002 to 0.013 Q73.8 176240
Split-hand split-foot 2 0.006 −0.002 to 0.013 Q72.7 183600
Brachy-mesophalangy 1 0.003 −0.003 to 0.008 112800
Camptodactyly 1 0.003 −0.003 to 0.008 Q68.1 114200
Clinodactyly 1 0.003 −0.003 to 0.008 Q74.0
Constriction ring 1 0.003 −0.003 to 0.008 Q79.8 217100
Leg length discrepancy 1 0.003 −0.003 to 0.008 Q72.9
Overriding toe 1 0.003 −0.003 to 0.008
Radial hemimelia 1 0.003 −0.003 to 0.008 Q71.8 114500
Ulnar hemimelia 1 0.003 −0.003 to 0.008 Q71.8
Eye or visual impairments 55 0.152 0.115–0.189
Squint eye (esotropia) 17 0.047 0.025–0.069 H50.0 185100
Squint eye (exotropia) 7 0.019 0.005–0.034 H50.1
Blindness 14 0.039 0.019–0.059 H54.0
High myopia 13 0.036 0.017–0.055 H52.1 160700
Anophthalmia 2 0.006 −0.002 to 0.013 Q11.1
Color blindness 1 0.003 −0.003 to 0.008 H53.5 303800
Congenital nystagmus 1 0.003 −0.003 to 0.008 H55 617297
Musculoskeletal defects 37 0.102 0.071–0.134
Dwarfisms 8 0.022 0.007–0.037 Q77.4 100800
Muscular atrophy 7 0.019 0.005–0.034 G12.1 253300
Muscular dystrophy 7 0.019 0.005–0.034 G71.0 310200
Kyphoscoliosis 4 0.011 0.000–0.022 M41.9 610170
Congenital hip dislocation 3 0.008 −0.001 to 0.018 Q65 142700
Kyphosis 2 0.006 −0.002 to 0.013 Q76.4
Mucopolysaccharidosis 1 0.003 −0.003 to 0.008 E76.3 607014
Pectus carinatum 1 0.003 −0.003 to 0.008 Q67.7 245600
Pectus excavatum 1 0.003 −0.003 to 0.008 Q67.6 600399
Rickets 1 0.003 −0.003 to 0.008 E83.3 277440
Spinal muscular atrophy 1 0.003 −0.003 to 0.008 G12.1 253300
Torticollis 1 0.003 −0.003 to 0.008 M43.6 189600
Ectodermal anomalies 13 0.036 0.017–0.055
Ectodermal dysplasia 3 0.008 −0.001 to 0.018 Q82.4 224900
Anonychia 2 0.006 −0.002 to 0.013 Q84.3 206800
Early tooth decay 2 0.006 −0.002 to 0.013 K02
Ichthyosis 2 0.006 −0.002 to 0.013 Q80.1 602400
Albinism 1 0.003 −0.003 to 0.008 E70.3 300500
Dentinogenesis imperfecta 1 0.003 −0.003 to 0.008 K00.5 125490
Eczema 1 0.003 −0.003 to 0.008 L20 603165
Epidermolysis 1 0.003 −0.003 to 0.008 Q81.2 226600
Blood disorders 12 0.033 0.015–0.052
Thalassemia (major = 8; intermedia = 1) 9 0.025 0.009–0.041 D56.1 613985
Hemophilia 3 0.008 −0.001 to 0.018 D66 306700
Others 14 0.039 0.019–0.059
Cleft palate 4 0.011 0.000–0.022 Q35 119540
Heart septal defect 3 0.008 −0.001 to 0.018 Q24.9 600001
Lymphedema 2 0.006 −0.002 to 0.013 Q82.0 153100
Urogenital defect 3 0.008 −0.001 to 0.018 Q62 617641
Cleft lip 1 0.003 −0.003 to 0.008 Q36 119530
Enuresis 1 0.003 −0.003 to 0.008 R32 600631
Total 361 1.000 1.000–1.000
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