Version May 2024
| Syndrome | Clinical features |
| Down syndrome MIM #190685 | Brachycephaly, upslanting palpebral fissures, epicanthal folds, short neck, transverse palmar crease, space between first and second toes, hypotonia |
| Trisomy 18 | Prominent occiput, narrow bifrontal diameter, hypoplastic supraorbital ridge, short palpebral fissures, micrognathia, structural cardiac lesions (VSD, ASD, PDA) |
| Trisomy 13 | Holoprosencephaly, wide sagittal suture, cleft lip, cleft palate, loose skin, transverse palmar crease, polydactyly, posterior prominence of heel; structural cardiac lesions (VSD, PDA, ASD, dextrocardia) |
| Fetal alcohol syndrome | Pre- and postnatal growth retardation, short palpebral fissures, flat philtrum, thin upper lip |
| Seckel syndrome MIM #210600 | Pre- and postnatal growth retardation, average birth weight approximately 1540 g, proportionate short stature; micrognathia, facial asymmetry, downslanting palpebral fissures, prominent beaked nose; limb hypoplasia; gap between first and second toes |
| Smith-Lemli-Opitz syndrome MIM #270400 | Ptosis, broad nasal tip, anteverted nostrils, cleft palate, micrognathia, congenital heart defects, syndactyly of second and third toes, postaxial polydactyly, hypospadias or cryptorchidism (in males) |
| Williams-Beuren (7q11.23 deletion) MIM #194050 | Cardiovascular disease (supravalvular aortic stenosis), idiopathic hypercalcemia, periorbital fullness, short upturned nose, long philtrum, wide mouth, full lips |
| Cornelia de Lange syndrome MIM 122470, 300590, 610759 | Pre- and postnatal growth retardation, generalized hirsutism, fusion of eyebrows (synophrys), arched brows, long eyelashes, small upturned nose, thin lips, midline beaking of the upper lip; limb reduction defects, missing fingers, syndactyly of second and third toes |
| Miller-Dieker lissencephaly (17p13.3 deletion) MIM #247200 | Bitemporal narrowing, upturned nose, small jaw, vertical furrowing of forehead, micrognathia, genitourinary anomalies |
| Wolf-Hirschhorn (4p deletion) MIM #194190 | CHD, hearing loss, prominent glabella, hypertelorism, wide nasal bridge, beaked nose, short philtrum, down-turned upper lip |
| Cri-du-chat (5p15.2 deletion) MIM #123450 | Round face, hypertelorism, micrognathia, epicanthal folds, hypotonia, high-pitched cry |
| Monosomy 1p36 deletion MIM #607872 | Brachycephaly, large fontanelle, pointed chin, hearing loss, flat nasal bridge, flat nose, cleft lip, cleft palate, short fifth finger |
| Mowat-Wilson syndrome MIM #235730 | Pre- or postnatal microcephaly, short stature, hypertelorism, iris coloboma, deep-set eyes, downslanting palpebral fissures, cupped ears, pointed chin, seizures, hypospadias (in males), Hirschsprung disease, CHD |
| Rubinstein-Taybi syndrome MIM #180849 | Postnatal short stature, low anterior hairline, hypoplastic maxilla, micrognathia, heavy eyebrows, long eyelashes, broad thumbs, and big toes |
| Aicardi-Goutières syndrome MIM #225750 | Congenital microcephaly, abnormal eye movements, hepatosplenomegaly, cerebral calcification, thrombocytopenia, spasticity, seizures |
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