Limb defects Presented in alphabetical order. | Index cases | Familial/sporadic | Total no. of people affected in all families | |||||
---|---|---|---|---|---|---|---|---|
Male | Female | Total | Familial | Sporadic | Male | Female | Total | |
Arthrogryposis | 8 | 2 | 10 | 2 | 8 | 10 | 8 | 18 |
Brachydactyly, brachymetatarsus IV | 4 | 0 | 4 | 3 | 1 | 8 | 4 | 12 |
Brachydactyly, all fingers | 0 | 2 | 2 | 1 | 1 | 1 | 2 | 3 |
Camptodactyly | 1 | 0 | 1 | 1 | 0 | 2 | 1 | 3 |
Clubfoot | 19 | 7 | 26 | 8 | 18 | 30 | 11 | 41 |
Congenital shortening of lower limb | 4 | 0 | 4 | 1 | 3 | 4 | 1 | 5 |
Polydactyly, postaxial type A | 19 | 4 | 23 | 13 | 10 | 35 | 16 | 51 |
Polydactyly, postaxial type B | 5 | 0 | 5 | 2 | 3 | 7 | 0 | 7 |
Polydactyly, preaxial type I | 17 | 4 | 21 | 8 | 13 | 25 | 13 | 38 |
Polydactyly, preaxial type II | 0 | 1 | 1 | 0 | 1 | 0 | 1 | 1 |
Reduction defects of lower limb | 2 | 0 | 2 | 1 | 1 | 2 | 1 | 3 |
Reduction defects of upper limb | 5 | 1 | 6 | 1 | 5 | 7 | 3 | 10 |
Split-hand/foot | 1 | 0 | 1 | 1 | 0 | 6 | 2 | 8 |
Syndactyly, type II | 0 | 1 | 1 | 1 | 0 | 1 | 2 | 3 |
Syndactyly, type 1a | 4 | 0 | 4 | 3 | 1 | 9 | 1 | 10 |
Syndactyly, type 1c | 0 | 2 | 2 | 2 | 0 | 6 | 3 | 9 |
Category Sporadic cases ( | Paternal age (mean ± SD) | Maternal age (mean ± SD) | Significance level ( | |
---|---|---|---|---|
Limb defects | 62 | 33.4 ± 5.0 | 27.0 ± 5.2 | <0.0001 |
Neurological disorders | 56 | 32.8 ± 4.8 | 26.3 ± 4.6 | <0.0001 |
Musculoskeletal defects | 14 | 35.8 ± 4.9 | 29.3 ± 4.7 | 0.0014 |
Neuromuscular anomalies | 5 | 40.0 ± 3.7 | 32.8 ± 3.6 | 0.0143 |
ANOVA, | ANOVA, | |||
Limb defects | 43 | 34.7 ± 7.4 | 27.7 ± 6.2 | <0.0001 |
Neurological disorders | 16 | 31.8 ± 5.6 | 25.4 ± 4.8 | 0.0018 |
Musculoskeletal defects | 7 | 31.4 ± 5.6 | 25.3 ± 5.9 | 0.0702 |
Neuromuscular anomalies | 4 | 36.0 ± 6.8 | 29.0 ± 5.0 | 0.1469 |
< | ||||
ANOVA, | ANOVA, |
Malformation (major/minor) | No. of cases Proportion | 95% CI | ICD-10 ICD-10, International Classification of Diseases, Tenth Revision; ^IQ, intelligence quotient | OMIM OMIM, Online Mendelian Inheritance in Man; ORPHA, #Orphanet database identifiers/Entrez. | ORPHA Orphanet database identifiers/Entrez. | |
---|---|---|---|---|---|---|
Clubfoot | 26 | 0.108 | 0.069–0.147 | Q66 | 119800 | 293150, 199315 |
Polydactyly, postaxial type A | 23 | 0.095 | 0.058–0.133 | Q69.0;Q69.2 | 174200 | 93335 |
Polydactyly, preaxial type I | 20 | 0.083 | 0.048–0.118 | Q69.1 | 174400 | 93339 |
Arthrogryposis | 10 | 0.042 | 0.016–0.067 | Q74.3 | 108120 | 1146 |
Polydactyly, postaxial type B | 6 | 0.025 | 0.005–0.045 | Q69.0;Q69.2 | 174200 | 93335 |
Reduction defects of upper limb | 6 | 0.025 | 0.005–0.045 | Q71 | 217100 | 93457 |
Brachydactyly, 4th toe; brachymetatarsus IV | 4 | 0.017 | 0.001–0.033 | Q72.8 | 113475 | 294998 |
Congenital shortening of lower limb | 4 | 0.017 | 0.001–0.033 | Q72.8 | 295057 | |
Syndactyly, type 1a | 4 | 0.017 | 0.001–0.033 | Q70.3 | 609815 | 93402, 295187 |
Brachydactyly, all fingers short | 2 | 0.008 | −0.003 to 0.020 | Q71.8 | 295130 | |
Reduction defects of lower limb | 2 | 0.008 | −0.003 to 0.020 | Q72 | 93457 | |
Syndactyly, type 1c | 2 | 0.008 | −0.003 to 0.020 | Q70.1 | 295191 | |
Camptodactyly | 1 | 0.004 | −0.004 to 0.012 | 114200 | 295016 | |
Polydactyly, preaxial type II | 1 | 0.004 | −0.004 to 0.012 | Q74.0 | 174500 | 2950, 93336 |
Split-hand/foot | 1 | 0.004 | −0.004 to 0.012 | Q72.7 | 183600 | 2440 |
Syndactyly, type II | 1 | 0.004 | −0.004 to 0.012 | Q70.4 | 186000 | 295195 |
Intellectual disability: mild | 21 | 0.087 | 0.052–0.123 | F70 | 249500 | 88616 |
Spastic diplegic cerebral palsy | 20 | 0.083 | 0.048–0.118 | G80.1 | ||
Intellectual disability: severe | 11 | 0.046 | 0.019–0.072 | F72 | 611091 | 88616 |
Hereditary neuropathy | 6 | 0.025 | 0.005–0.045 | G60 | 201300 | 970 |
Cerebral palsy, unspecified | 4 | 0.017 | 0.001–0.033 | G80.9 | 605388 | |
Spastic hemiplegic cerebral palsy | 3 | 0.012 | −0.002 to 0.026 | G80.2 | ||
Spastic quadriplegic cerebral palsy | 3 | 0.012 | −0.002 to 0.026 | G80.0 | 603513 | 210141 |
Ataxic cerebral palsy | 2 | 0.008 | −0.003 to 0.020 | G80.4 | 605388 | |
Amyotrophic lateral sclerosis | 1 | 0.004 | −0.004 to 0.012 | G12.2 | 105400 | 803 |
Down syndrome | 1 | 0.004 | −0.004 to 0.012 | Q90.9 | 190685 | 870 |
Hereditary ataxia | 1 | 0.004 | −0.004 to 0.012 | G11 | 229300 | 95 |
Hereditary spastic paraplegia | 1 | 0.004 | −0.004 to 0.012 | G11.4 | 270800 | |
Intellectual disability; succinic semialdehyde dehydro- genase deficiency | 1 | 0.004 | −0.004 to 0.012 | 271980 | 22 | |
Microcephaly, low IQ^ | 1 | 0.004 | −0.004 to 0.012 | Q02 | 251200 | 2512, 52183 |
Achondroplasia | 12 | 0.050 | 0.022–0.077 | Q77.4 | 100800 | 15 |
Kyphosis | 2 | 0.008 | −0.003 to 0.020 | Q76.4 | 192900 | |
Congenital deformity of forehead | 1 | 0.004 | −0.004 to 0.012 | Q75.8 | ||
Congenital dislocation of hip | 1 | 0.004 | −0.004 to 0.012 | Q65.2 | 142700 | |
Congenital malformation of bony thorax; genu valgum | 1 | 0.004 | −0.004 to 0.012 | Q76.9; Q74.1 | ||
Congenital scoliosis | 1 | 0.004 | −0.004 to 0.012 | Q76.3 | ||
Disorder of ligament (leg) | 1 | 0.004 | −0.004 to 0.012 | M24.2 | ||
Diastrophic dysplasia | 1 | 0.004 | −0.004 to 0.012 | Q77.5 | 222600 | 628 |
Genu valgum | 1 | 0.004 | −0.004 to 0.012 | Q44.1 | 137370 | |
Multiple congenital exostoses | 1 | 0.004 | −0.004 to 0.012 | Q78.6 | 133700 | 321 |
Osteochondrodysplasia, unspecified | 1 | 0.004 | −0.004 to 0.012 | Q78.9 | ||
Muscular dystrophy | 8 | 0.033 | 0.011–0.056 | G71.0 | 310200 | 98896 |
Spinal muscular atrophy | 2 | 0.008 | −0.003 to 0.020 | G12.1 | 253300 | 70, 83330 |
Oculocutaneous albinism | 3 | 0.012 | −0.002 to 0.026 | E70.3 | 203100 | 79431, 352731 |
Allergic asthma | 3 | 0.012 | −0.002 to 0.026 | J45.9 | ||
Deaf-mute | 3 | 0.012 | −0.002 to 0.026 | H91.3. | 220290 | 90636 |
Dysphasia | 1 | 0.004 | −0.004 to 0.012 | R47.0 | 600117 | |
Amblyopia | 1 | 0.004 | −0.004 to 0.012 | H53.0 | ||
Congenital malformation of cardiac septum | 1 | 0.004 | −0.004 to 0.012 | Q21.9 | 600001 | |
Deformed ear pinna | 1 | 0.004 | −0.004 to 0.012 | H61.9 | 156243 | |
Disorders of fluid, electrolyte, and acid–base balance | 1 | 0.004 | −0.004 to 0.012 | E87 | ||
High myopia | 1 | 0.004 | −0.004 to 0.012 | H52.1 | 160700 | |
Hypertensive heart disease | 1 | 0.004 | −0.004 to 0.012 | I11 | ||
Intestinal cancer | 1 | 0.004 | −0.004 to 0.012 | C17.9 | 26106 | |
Night blindness | 1 | 0.004 | −0.004 to 0.012 | H53.6 | 257270 | 215 |
Vitiligo | 1 | 0.004 | −0.004 to 0.012 | L80 |
Limb defects | No. of | Total no. of | Upper limb ( | Lower limb ( | No. of cases with involvement of …. | No. of limbs involved | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
cases | affected limbs | ||||||||||||
RA | LA | RL | LL | Arms only | Legs only | Both | Any 1 | Any 2 | Any 3 | All 4 | |||
Arthrogryposis | 10 | 22 | 6 | 7 | 5 | 4 | 5 | 1 | 4 | 3 | 4 | 1 | 2 |
Brachydactyly, brachyme- | 4 | 5 | 0 | 0 | 3 | 2 | 0 | 4 | 0 | 3 | 1 | 0 | 0 |
tatarsus IV | |||||||||||||
Brachydactyly, all fingers | 2 | 4 | 2 | 2 | 0 | 0 | 2 | 0 | 0 | 0 | 2 | 0 | 0 |
Camptodactyly | 1 | 4 | 1 | 1 | 1 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
Clubfoot | 26 | 44 | 0 | 0 | 23 | 21 | 0 | 26 | 0 | 8 | 18 | 0 | 0 |
Congenital shortening of | 4 | 5 | 0 | 0 | 4 | 1 | 0 | 4 | 0 | 3 | 1 | 0 | 0 |
lower limb | |||||||||||||
Polydactyly, postaxial | 23 | 50 | 12 | 12 | 16 | 10 | 3 | 9 | 11 | 9 | 6 | 3 | 5 |
type A | |||||||||||||
Polydactyly, postaxial | 5 | 6 | 2 | 3 | 1 | 0 | 4 | 1 | 0 | 4 | 1 | 0 | 0 |
type B | |||||||||||||
Polydactyly, preaxial type I | 21 | 25 | 10 | 13 | 1 | 1 | 20 | 0 | 1 | 19 | 1 | 0 | 1 |
Polydactyly, preaxial | 1 | 1 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 0 |
type II | |||||||||||||
Reduction defects of | 2 | 3 | 0 | 0 | 1 | 2 | 0 | 2 | 0 | 1 | 1 | 0 | 0 |
lower limb | |||||||||||||
Reduction defects of | 6 | 7 | 4 | 3 | 0 | 0 | 6 | 0 | 0 | 5 | 1 | 0 | 0 |
upper limb | |||||||||||||
Split-hand/foot | 1 | 4 | 1 | 1 | 1 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
Syndactyly, type II | 1 | 4 | 1 | 1 | 1 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | 1 |
Syndactyly, type 1a | 4 | 8 | 0 | 0 | 4 | 4 | 0 | 4 | 0 | 0 | 4 | 0 | 0 |
Syndactyly, type 1c | 2 | 4 | 2 | 2 | 0 | 0 | 2 | 0 | 0 | 0 | 2 | 0 | 0 |
Congenital anomalies | Index subject | Proportion | 95% CI | Familial/sporadic nature Chi-test statistics were statistically highly significant. | Total no. of people affected in all families Chi-test statistics were statistically highly significant. | |||||
---|---|---|---|---|---|---|---|---|---|---|
Male | Female | Total | Familial | Sporadic | Male | Female | Total | |||
Limb defects | 89 | 24 | 113 | 0.469 | 0.406–0.532 | 48 | 65 | 153 | 69 | 222 |
Neurological disorders | 57 | 19 | 76 | 0.315 | 0.257–0.374 | 20 | 56 | 83 | 35 | 118 |
Musculoskeletal defects | 16 | 7 | 23 | 0.095 | 0.058–0.133 | 8 | 15 | 23 | 18 | 41 |
Neuromuscular anomalies | 9 | 1 | 10 | 0.042 | 0.016–0.067 | 5 | 5 | 21 | 2 | 23 |
Others ( | 10 | 9 | 19 | 0.079 | 0.045–0.113 | 16 | 3 | 44 | 49 | 93 |
Gender | Familial/sporadic | ||||
---|---|---|---|---|---|
Demographic variables | Gender Male | Female | Familial/sporadic Familial | Sporadic | Total |
≤9 | 26 | 19 | 16 | 29 | 45 |
>9–19 | 67 | 28 | 28 | 67 | 95 |
>19–29 | 40 | 5 | 22 | 23 | 45 |
>29–39 | 22 | 4 | 15 | 11 | 26 |
≥39 | 26 | 4 | 16 | 14 | 30 |
Rural | 148 | 45 | 72 | 121 | 193 |
Urban | 33 | 15 | 25 | 23 | 48 |
Jatt | 51 | 12 | 32 | 31 | 63 |
Rajput | 32 | 7 | 13 | 26 | 39 |
Arain | 18 | 7 | 9 | 16 | 25 |
Malik | 13 | 9 | 10 | 12 | 22 |
Meher | 14 | 4 | 10 | 8 | 18 |
Others | 53 | 21 | 23 | 51 | 74 |
During the 1947 partition. | |||||
Native | 150 | 42 | 76 | 116 | 192 |
Migrated | 31 | 18 | 21 | 28 | 49 |
Illiterate | 98 | 31 | 49 | 80 | 129 |
Literate | 71 | 21 | 41 | 51 | 92 |
Nuclear | 107 | 30 | 67 | 70 | 137 |
Extended | 74 | 30 | 30 | 74 | 104 |
CA category\Association | Brachydactyly | Camptodactyly | Syndactyly type | Clubfoot | Arthrogryposis | Deaf- mute | Cerebral palsy | Others |
---|---|---|---|---|---|---|---|---|
Achondroplasia | 1 | 1 | High myopia | |||||
Arthrogryposis | III | |||||||
Camptodactyly | First toe | |||||||
Clubfoot | Fourth toe | 3 | 1a | |||||
Deaf-mute | Polydactyly, postaxial type A | |||||||
Down syndrome | Fourth toe | Squint eye | ||||||
Dysphasia | 1 | |||||||
Hereditary neuropathy | Third toe | Squint eye | ||||||
Intellectual disability: mild | 3 | 2 | 10 | Ataxia | ||||
Intellectual disability: severe | Fourth toe | 1 | 3 | 8 | Cleft lip, overriding toe; polydactyly postaxial type B | |||
Kyphosis | Fourth toe | 1 | ||||||
Muscular dystrophy | Cleft lip | |||||||
Polydactyly, postaxial type A | 1a | Clinodactyly | ||||||
Polydactyly, preaxial type I | 1 | Hypoplastic thumb | ||||||
Reduction defects of lower limb | 1 | 1 | ||||||
Spastic diplegic cerebral palsy | Third toe | 1 | Cleft palate | |||||
Spinal muscular atrophy | 1 | |||||||
Parental marriage type, | |||
---|---|---|---|
Category | Consanguineous Inbreeding coefficient | Nonconsanguineous | Total no. of marriages |
Limb defects | 10 (9) | 103 (91) | 113 |
Neurological disorders | 16 (21) | 60 (79) | 76 |
Musculoskeletal defects | 4 (17) | 19 (83) | 23 |
Neuromuscular anomalies | 3 (30) | 7 (70) | 10 |
Others | 8 (42) | 11 (58) | 19 |
Familial | 28 (29) | 69 (71) | 97 |
Sporadic | 13 (9) | 131 (91) | 144 |