TABLE II.
Syndromes or Defined Phenotypes Presenting With Amelia [Winter and Baraitser, 2010; OMIM, 2011]
| Syndrome or defined phenotype | OMIM number, or Refs. | Location | Human gene/locus |
|---|---|---|---|
| Amelia, anorectal, and genital atresia | Ghosh and Gupta [2004] | — | — |
| CHILD (congenital hemidysplasia, ichthyosis, limb defects) | 308050 | Xq28 | NSDHL |
| Cloacal extrophy and limb defects | Sawaya et al. [2010] | — | — |
| Diaphragmatic hernia limb anomalies | Lai et al. [2010] | — | — |
| Disorganization-like | 223200 | — | — |
| DK-phocomelia | 223340 | — | — |
| Femur-fibula-ulna (FFU) complex | 228200 | — | — |
| Fetal alcohol syndrome | Pauli and Feldman [1986] | — | — |
| Fetal bifonazole | Linder et al. [2010] | — | — |
| Fetal cocaine | Marles et al. [2003] | — | — |
| Fetal thalidomide | Lenz [1961, 1962], McCredie and Willert [1999] | — | — |
| Fibular aplasia, oligodactyly, camptomelia | 246570 | — | — |
| Glass—ear anomalies, clefting, limb reduction defects | Glass et al. [1994] | — | — |
| LL syndrome—amelia, upper limb defects | Lazjuk et al. [1976] | — | — |
| Maternal diabetes syndrome | Martínez-Frías [1994] | — | — |
| McKusick—cataract, unilateral limb defects | 246000 | — | — |
| Michaud—autosomal recessive amelia | 601360 | — | — |
| Microgastria—upper limb anomalies | 156810 | — | — |
| Ohdo—tetraamelia, facial abnormalities, mental retardation | 273390 | — | — |
| Popliteal pterygium syndrome | 119500 | 1q32.3-q41 | IRF6 |
| Ratan—limb defects, imperforate anus, ventricular septal defect | Ratan et al. [2005] | — | — |
| Roberts (pseudothalidomide) syndrome | 268300 | 8p21.1 | ESCO2 |
| Schinzel—phocomelia and additional anomalies | 276820 | 3p25 | WNT7A |
| Splenogonadal fusion-limb defects | 183300 | — | — |
| Steinfeld—holoprosencephaly, limb defects | 184705 | — | — |
| Upper limb amelia, male pseudohermaphroditism | Ohro et al. [1998] | — | — |
| Urioste—limb deficiency, vertebral hypersegmentation, absent thymus | Urioste et al. [1996], Martínez-Frías et al. [1997b] | — | — |
| VACTERL (vertebral, anal, cardiac, tracheo-esophageal, renal and limb defects) | 192350 | 2q31.1 | HOXD13 |
| XK-aprosencephaly | 207770 | — | — |
| Yim—amelia, hydrocephalus, iris coloboma, cleft lip/palate | Kariminejad et al. [2009] | — | — |