Table 2.

Frequency and prevalence of associated congenital anomaly among individuals with craniofacial anomalies and intellectual disability.

Congenital anomalies diagnostic category (BPA-ICD9 code)	Craniofacial anomalies		Orofacial clefts		Craniosynostosis		Craniofacial microsomia		Other congenital anomalies
	All ID (n = 134)	Severe ID (n = 17)	All ID (n = 89)	Severe ID (n = 11)	All ID (n = 34)	Severe ID (n ≤ 5)	All ID (n = 10)	Severe ID (n ≤ 5)	All ID (n = 2515)	Severe ID (n = 378)
	n (%)	n (%)	n (%)	n (%)	n (%)	n (%)	n (%)	n (%)	n (%)	n (%)
Chromosomal abnormalities (75800- 75899)	22 (16.4)	≤5	18 (20.2)	≤5	≤5	0	0	0	769 (30.6)	104 (27.5)
Foetal alcohol syndrome (75992)	≤5	0	≤5	0	≤5	0	0	0	47 (1.9)	6 (1.6)
System affected
Nervous (74000–74299)	32 (23.9)a	9 (52.9)b	19 (21.4)	6 (54.6)	10 (29.4)	≤5	≤5	≤5	464 (18.5)	134 (35.5)
Cardiovascular (74500–74788)	22 (16.4)	≤5	15 (16.9)	≤5	≤5	0	≤5	≤5	591 (23.5)	65 (17.2)
Respiratory (74800–74888)	8 (6.0)	≤5	≤5	≤5	≤5	0	0	0	25 (1.0)	≤5
Gastrointestinal (75000–75188)	10 (7.5)	≤5	8 (9.0)	≤5	≤5	0	0	0	159 (6.3)	27 (7.1)
Urogenital (75200–75399)	24 (17.9)	≤5	17 (19.1)	≤5	6 (17.7)	0	0	0	498 (19.8)	49 (13.0)
Musculoskeletal (75400–75699)c	65 (48.5)	10 (58.8)	37 (41.6)	≤5	19 (55.9)	≤5	8 (80.0)	≤5	537 (21.4)	82 (21.7)
Integument (75710–75792)	8 (6.0)	≤5	≤5	0	≤5	≤5	≤5	0	94 (3.7)	10 (2.6)

BPA British Paediatric Association, ICD International Classification of Diseases, ID intellectual disability.

^aIncludes microcephaly (n = 12) and corpus callosum agenesis (n = 8).

^bIncludes microcephaly (n ≤ 5), corpus callosum agenesis (n = ≤5) and holoprosencephaly (n = ≤5).

^cDoes not include oral clefts, craniosynostosis and related syndromes, craniofacial microsomia and other contributing syndromes.