Table 1.

Summary of clinical features of different syndromes

Clinical findings	Trisomy 21	Trisomy 18	Trisomy 13	Cat Eye	Turner	Williams	DiGeorge	Deletion 13 qter	Other Syndromes*	Total
(n= patients’ number)	n = 89	n = 7	n = 4	n = 2	n = 1	n = 1	n = 1	n = 1	n = 19	n = 125
Clinical features
Psychomotor Delay	83	7	4	-	-	1	1	1	16	113
Hypotonia	72	4	4	-	-	1	-	1	1	83
Hyperflexibility	49	-	-	-	-	-	-	-	-	49
Microcephaly	39	2	3	-	-	-	-	1	5	50
Uncurled hair	73	5	3	1	-	-	-	-	2	84
Flat Facial profile	62	-	-	-	-	-	-	-	1	63
Hypertelorism	85	5	3	2	-	1	1	1	14	112
Mongoloid Slant	81	-	1	-	-	-	-	-	2	84
Epicanthal folds	81	-	1	-	-	-	1	1	2	86
Nystagmus	1	-	-	-	-	-	-	-	-	1
Strabismus	9	-	2	1	-	-	-	1	1	14
Microphtalmia	-	1	3	2	-	-	-	-	2	8
Coloboma	-	-	-	1	-	-	-	-	-	1
Ear abnormalities	78	7	5	-	-	-	1	-	13	104
Preauricular tags	-	-	-	2	-	-	-	-	-	2
Flat nasal bridge	71	2	2	2	-	-	1	1	5	84
Protuding tongue	46	-	-	-	-	-	-	-	1	47
Proeminent Upper Lip	-	-	-	-	-	-	-	-	5	5
Cleft lip/palate	-	-	2	-	-	-	-	-	-	2
Micro/retrognatia	8	7	1	-	-	-	-	-	5	21
Short neck	76	5	2	-	1	-	-	1	11	96
Excessive neck skin	55	-	2	-	1	-	-	-	7	65
Chest Deformity	11	-	-	-	-	-	-	-	4	15
Wide spaced nipples	27	2	1	-	1	-	-	-	6	37
Brachydactyly	49	-	-	-	-	-	-	-	-	49
Clinodactyly	-	1	-	-	-	-	-	-	1	2
Clenched hand	-	5	2	-	-	-	-	-	2	9
Syndactyly	-	-	-	-	-	-	-	-	3	3
Polydactyly	-	1	4	-	-	-	-	-	-	5
Simian crease	41	2	1	-	-	-	-	1	1	46
Wide sandle Gap	47	-	-	-	-	-	-	-	1	48
Rocker bottom foot	-	5	-	-	-	-	-	-	1	6
Gastro-intestinal anomalies
Umbilical hernia	22	2	3	-	-	1	-	-	1	29
Anus atresia	1	-	-	1	-	-	-	-	1	3
Duodenal Atresia	1	-	-	-	-	-	-	-	-	1
Hirshprung disease	3	-	-	-	-	-	-	-	-	3
Urogenital anomalies
Cryptorchidism	2	1	-	-	-	-	-	1	-	4
Hypospadias	-	-	-	-	-	-	-	1	-	1

^*Represents other syndromes identified in the present study which include 4 cases of Noonan syndrome, 1 case of Poland syndrome, 1 case of Fraser syndrome, 1 case of Cornelia de Lange as well as 13 cases