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

Naeem, Muhammad; Ahmad, Bashir; Malik, Sajid

doi:10.2478/abm-2022-2033

Figures & Tables

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

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

Figures & Tables

Figure 1.

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

Syndromic cases with a combination of associated anomalies

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

Demographic attributes of recruited individuals

Major and minor categories of anomalies, proportions, and classification

Paradigm

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