Table 1.

Most common dysmorphic features reported in 374 IMDs according to six organ groups. For details also see Supplemental Table S2.

Head and face	%	Nose and philtrum	%	Mouth and tongue	%	Other	%
Micrognathia	13.8	Broad nasal bridge	14.9	High arched palate	15.5	Short stature	44.1
Coarse face	13.3	Depressed nasal bridge	14.1	Cleft palate	12.1	Hernias	11.0
Retrognathia	5.9	Long philtrum	11.2	Thin upper lip	11.6	Inverted nipples	9.3
High forehead	5.7	Anteverted nares	7.2	Slender upper lip	6.0	Short neck	9.3
Midface hypoplasia	5.7	Bulbous nose	5.6	Wide mouth	4.3	Hypospadias	3.4
Facial dysmorphism	4.4	Short nose	5.6	Open mouth	3.4	Retrognathia	2.5
Long face	4.2	Short philtrum	4.4	Small mouth	3.4	Kyphosis	1.7
Frontal bossing	3.7	High nasal bridge	3.6	Thin lips	3.4	Loose, wrinkled skin	1.7
Bitemporal narrowing	3.4	Prominent nose	2.8	Macroglossia	3.0	Pectus carinatum	1.7
Triangular face	3.4	Broad nose	2.4	Tented upper lip	3.0	Short limbs	1.7
Periorbital region	%	Ear	%	Hands and feet	%	Supernumerary nipple	1.7
Widely spaced eyes	16.6	Low set ears	41.2	Clubfoot	16.0	Widely spaced nipples	1.7
Epicanthal fold	12.5	Large ears	12.1	Syndactyly	8.4	Aged appearance	0.8
Hypertelorism	8.2	Square ears	8.5	Clinodactyly	6.9	Barrel-shaped chest	0.8
Microphthalmia	6.6	Posteriorly rotated ears	7.3	Long digits	6.9	Brachycephaly	0.8
Strabismus	6.0	Dysplastic ears	6.7	Camptodactyly	5.3	Broad neck	0.8
Deeply set eyes	5.6	Prominent ears	3.6	Brachydactyly	3.1	Congenital hip dislocation	0.8
Down-slanting palpebral fissures	5.6	Cupped ears	3.0	Tapered digits	3.1	Cryptorchidism	0.8
Up-slanting palpebral fissures	5.3	Large malformed ears	2.4	Adducted thumbs	2.3	Dwarfism	0.8
Synophrys	2.5	Macrotia	2.4	Nail hypoplasia	2.3	Microdontia	0.8
Esotropia	2.2	Large lobes	1.8	Short metacarpals	2.3	Mongolian spot	0.8