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. Author manuscript; available in PMC: 2015 Jun 3.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2011 Oct 14;0(4):288–304. doi: 10.1002/ajmg.c.30319

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]