Epidemiology of congenital anomalies in the Kurram Tribal Agency, northwest Pakistan

Demographic variables	Male	Female	Total
Age (years)
≤9	52	38	90
10-19	49	49	98
20-29	17	9	26
≥30-39	17	15	32
Origin
Rural	117	94	211
Urban	18	17	35
Total	135	111	246
Caste/ethnicity
Turi	66	53	119
Bangash	38	40	78
Syed	18	13	31
Others	13	5	18
Economic status (parental) Differences in the distribution were significant
Low	13	9	22
Low-mid	56	57	113
Mid	46	40	86
High-mid	20	5	25

Major and minor categories of congenital/hereditary malformations observed in the studied population

Malformation (major/minor)	No. of cases	Proportion	95% CI	OMEM Online Mendelian Inheritance in Man, and International Classification of Disease–10 database identifier/Entrez number, CI, confidence interval.	ICD-10 Online Mendelian Inheritance in Man, and International Classification of Disease–10 database identifier/Entrez number, CI, confidence interval.
Neurological disorders	83	0.337	0.278, 0.397
Mental retardations	49	0.199	0.149,0.249	300243	F03
Down syndrome	11	0.045	0.019,0.071	190685	Q90
Microcephaly	6	0.024	0.005,0.044	251200	Q02
Spina bifida	4	0.016	0.001, 0.032	182940	Q05, Q76.0
Cerebral palsy (unspecified)	3	0.012	-0.002,0.026	605388	G80.9
Quadriplegia	2	0.008	-0.003,0.019		G82.5
Spastic cerebral palsy	2	0.008	-0.003,0.019	603513	G80.0
Ataxia telangiectasia		0.004	-0.004,0.012	208900	G11.3
Cerebral atrophy		0.004	-0.004,0.012		G31.9
Dystonic cerebral palsy		0.004	-0.004,0.012		G80.3
Epilepsy		0.004	-0.004,0.012	607208	G40
Psychoneurosis		0.004	-0.004,0.012		F41.1
Schizophrenia		0.004	-0.004,0.012	181500	F20
Musculoskeletal defects	56	0.228	0.175, 0.280
Dwarfisms	19	0.077	0.044,0.111	100800	Q77.4
Arthrogryposis	8	0.033	0.010,0.055	108110	Q74.3
Hip dysplasia/dislocation	4	0.016	0.001,0.032	42700	Q65
Spinal muscular atrophy	4	0.016	0.001,0.032	253300	G12.1
Muscular dystrophy	3	0.012	-0.002,0.026	310200	G71.0
Osteogenesis imperfecta	3	0.012	-0.002,0.026	166200	Q78.0
Congenital dislocation of patella	2	0.008	-0.003,0.019	169000	Q74.1
Congenital kyphosis	2	0.008	-0.003,0.019		Q76.4
Congenital scoliosis	2	0.008	-0.003,0.019		Q76.3
Ellis-van Creveld syndrome	2	0.008	-0.003,0.019	225500	Q77.6
Vitamin-D resistant rickets	2	0.008	-0.003,0.019	277440	E83.3
Congenital patellar syndrome	1	0.004	-0.004,0.012	147891	Q74.1
Exostosis	1	0.004	-0.004,0.012	133700	Q78.6
Hypotonia	1	0.004	-0.004,0.012		P94.2
Nail-patella syndrome	1	0.004	-0.004,0.012	161200	Q87.2
Pfeiffer syndrome	1	0.004	-0.004,0.012	101600
Limb defects	52	0.211	0.160, 0.262
Amputations/deficiency	20	0.081	0.047,0.116	217100	Q73.0, Q72.0
Polydactyly	12	0.049	0.022-0.076	603596	Q69.9, Q69
Clubfoot	8	0.033	0.010,0.055	119800	Q66.89, Q66.0
Syndactyly	8	0.033	0.010,0.055	609815	Q70.9
Brachydactyly	3	0.012	-0.002,0.026	112500	Q68.1
Clinodactyly	1	0.004	-0.004,0.012		Q74.0
Senso rineural/ear defects	18	0.073	0.041, 0.106
Deaf-mute	17	0.069	0.037,0.101	304400	Q18
Usher syndrome	1	0.004	-0.004,0.012	276901	H35.5
Ectodermal anomalies	11	0.045	0.019, 0.071
Ichthyosis	7	0.029	0.008,0.049		Q80
Early tooth decay	2	0.008	-0.003,0.019		K02
Albinism	1	0.004	-0.004,0.012	300500	E70.3
Alopecia areata	1	0.004	-0.004,0.012	104000	L63
Congenital heart defects	10	0.0401	0.016, 0.065		Q20–Q26
Eye/visual impairments	6	0.024	0.005, 0.044
Anophthalmia	3	0.012	-0.002,0.026		Qll.l
Blindness	2	0.008	-0.003,0.019		H54.1
Squint eyes	1	0.004	-0.004,0.012	231000	Q10
Growth retardation	4	0.016	0.001, 0.032		Z00.70
Other	6	0.024	0.005, 0.044
Cleft palate	2	0.008	-0.003,0.019		Q35
Bilateral ureteric reflux	1	0.004	-0.004,0.012		N13.7
Metachromatic leukodystrophy	1	0.004	-0.004,0.012	250100	E75.2
Thalassemia	1	0.004	-0.004,0.012	613985	D56
Popliteal pterygium syndrome	1	0.004	-0.004,0.012	119500	Q79.8

Distribution of major categories of congenital anomalies, with respect to index cases, familial/sporadic nature, isolated/sporadic presentations, and total affected family members

Congenital anomaly	Index participant			Familial/sporadic nature differences in the distribution were statistically significant		Isolated/syndromic presentation differences in the distribution were statistically significant		Total affected in all families
	Male	Female	Total	Familial	Sporadic	Isolated	Syndromic	Male	Female	Both
Neurological disorder	46	37	83	17	66	41	42	64	47	111
Musculoskeletal defects	29	27	56	23	33	31	25	53	52	105
Limb defects	28	24	52	13	39	46	6	66	57	123
Sensorineural/ear defects	9	9	18	13	5	18	0	36	25	61
Ectodermal anomalies	6	5	11	6	5	11	0	21	28	49
Congenital heart defects	6	4	10	1	9	8	2	6	5	11
Eye/visual impairments	5	1	6	1	5	6	0	9	5	14
Growth retardation	2	2	4	0	4	3	1	2	2	4
Others	4	2	6	3	3	6	0	9	6	15
Total	135	111	246	77	169	170	76	266	227	493

Number of disease segregating generations and affected siblings

Congenital anomalies	Disease segregating generations				No. of affected siblings

	I	II	III	IV	1	2	3	4	≥5
Neurological disorders	13	3	0	1	8	8	0	0	1
Musculoskeletal defects	16	6	0	1	11	8	3	0	1
Limb defects	4	3	2	4	0	7	1	1	4
Sensorineural/ear defects	2	2	2	0	1	2	1	0	2
Ectodermal anomalies	7	5	0	1	5	3	3	0	2
Congenital heart defects	1	0	0	0	1	0	0	0	0
Eye/visual impairments	0	0	1	0	0	0	0	1	0
Growth retardation	0	0	0	0	0	0	0	0	0
Others	2	1	0	0	1	1	0	1	0
Total	45	20	5	7	27	29	8	3	10

Sporadic cases: parity and size of normal sibships of affected subjects

Congenital anomalies	No. of cases	Parity of index subject (in No. of cases)						Size of normal sibships (in No. of cases)

		1st	2nd	3rd	4th	≥5th	mean (SD)	0	1-2	3-4	5-6	≥7	Mean (SD)
Neurological disorders	66	16	5	11	8	26	4.24 (2.85)	2	11	17	14	22	4.84 (2.57)
Musculoskeletal defects	33	8	4	7	5	9	3.52 (2.29)	1	6	13	6	7	4.45 (2.56)
Limb defects	39	7	12	6	4	10	3.48 (2.44)	1	12	8	10	8	4.43 (3.04)
Sensorineural defects	5	2	0	0	1	2	3.40 (2.30)	1	2	1	1	0	2.40 (1.82)
Ectodermal anomalies	5	0	2	0	0	3	4.80 (2.95)	0	2	0	2	1	4.20 (2.77)
Congenital heart defects	9	2	1	2	2	2	3.56 (2.46)	1	3	3	1	1	3.22 (2.17)
Eye/visual impairments	5	2	0	0	1	2	4.60 (3.91)	0	0	2	3	0	4.40 (1.34)
Growth retardation	4	0	0	0	0	4	7.24 (1.25)	0	0	1	1	2	6.75 (2.50)
Others	3	1	1	0	0	1	3.33 (3.21)	1	0	1	1	0	3.00 (3.00)
Total	169	38	25	26	21	59	3.94 (2.65)	7	36	46	39	41	4.49 (2.66)

Pattern of limb defects in the studied cohort of individuals with congenital anomalies

Limb defects	No. of cases (n=52)	Total affected limps (n=82)	Upper limb (n=42)		Lower limb (n=40)		No. of cases with involvement			No. of limbs involved

			RA	LA	RL	IL	Arms only	Arms only	Both	Any 1	Any 2	Any 3	Any 4
Amputation	20	28	14	10	1	3	16	1	3	15	2	3	0
Polydactyly	12	20	7	4	5	4	6	4	2	8	2	0	2
Clubfoot	8	12	0	0	5	7	0	8	0	4	4	0	0
Syndactyly	8	15	2	2	5	6	2	6	0	1	7	0	0
Brachydactyly	3	5	0	1	2	2	1	2	0	1	2	0	0
Clinodactyly	1	2	1	1	0	0	1	0	0	0	2	0	0
Total	52	82	24	18	18	22	26	21	5	29	19	3	2

Relationship of consanguinity and different sample ascertainment types

Variable	Parental marriage type		Total cases

	Consanguineous	Nonconsanguineous
Sex
Male	73	62	135
Female	63	48	111
Familial/sporadic nature Differences in the distribution were significant
Familial	53	24	77
Sporadic	83	86	169
Total	136 (55.3%)	110 (44.7%)	246

Syndromic cases with the combination of associated malformations

		Associations

Major presentation	No. of cases	Delayed milestones	Squint eyes	Digit defects	Neuromuscular defects	Deaf/mute	Scoliosis	Clubfoot	Blindness	Microcephaly	Nail atrophy	Others	Total
Mental Retardation	24	6	4	1	4	5		1	1	1		Bulging eyes (2), Epilepsy (3), Muscular dystrophy (3) Delayed puberty (1)	32
Dwarfism	12				1	1	2		1	1	1	Webbed neck (4), Ribs dislocation (1), Delayed puberty (1)	13
Microcephaly	6	1		1		1						Mental retardation (4)	7
Amputation	5			3	2	1	1						7
Down syndrome	4		1	4	1							Dental decay (1)	7
Osteogenesis	3					1	1	1					3
imperfecta
Cerebral palsy	3	3	2										5
Congenital heart	2		1				1				1		3
defect
Arthrogryposis	2		2										2
Clubfoot	1			1									1
Muscular	1					1							1
dystrophy
Congenital	1				1								2
scoliosis												Cleft palate (1)
Quadriplegia	1							1					1
Total	65	10	10	10	9	7	5	4	4	2	2	21	84

eISSN:: 1875-855X
Langue:: Anglais

Périodicité:: 6 fois par an
Sujets de la revue:: Medicine, Assistive Professions, Nursing, Basic Medical Science, other, Clinical Medicine

RSS Feed de la revue

Epidemiology of congenital anomalies in the Kurram Tribal Agency, northwest Pakistan

Article Category: Original article

Publié en ligne: 31 mars 2017

Pages: 575 - 585

DOI: https://doi.org/10.5372/1905-7415.1006.529

Mots clésCongenital anomalies, descriptive epidemiology, FATA, genetic disorders, Pakistani

© 2016 Qandeel Zahra, Muhammad Shuaib, Sajid Malik

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

Demographic distribution of index subjects

Major and minor categories of congenital/hereditary malformations observed in the studied population

Distribution of major categories of congenital anomalies, with respect to index cases, familial/sporadic nature, isolated/sporadic presentations, and total affected family members

Number of disease segregating generations and affected siblings

Sporadic cases: parity and size of normal sibships of affected subjects

Pattern of limb defects in the studied cohort of individuals with congenital anomalies

Relationship of consanguinity and different sample ascertainment types

Syndromic cases with the combination of associated malformations

Mots clés
Congenital anomalies, descriptive epidemiology, FATA, genetic disorders, Pakistani