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Facial dysmorphism

DA: 55

Developmental anomaly information

Definition: Dysmorphisms of the fetal face are abnormalities in facial features which are usually associated with syndromic conditions.

Developmental anomaly parent: (empty)	Topology: Human body > Head and neck > Head > Face
System: Human body	Developmental anomaly category: Malformation

Case records MDB3, MDB5, MDB9, MDB11, MDB17, MDB21, MDB24, MDB26, MDB28, MDB29, MDB30, MDB32, MDB34, MDB36, MDB37, MDB40, MDB44, MDB47, MDB48, MDB50, MDB53, MDB54, MDB56, MDB68, MDB70, MDB72, MDB96, MDB97, MDB100, MDB101, MDB104, MDB105, MDB106, MDB107, MDB109, MDB112, MDB115, MDB124, MDB125, MDB134, MDB136, MDB139, MDB142, MDB145, MDB339, MDB151, MDB154, MDB166, MDB172, MDB178, MDB186, MDB193, MDB198, MDB200, MDB202, MDB205, MDB214, MDB215, MDB216, MDB217, MDB226, MDB227, MDB238, MDB240, MDB258, MDB260, MDB261, MDB263, MDB266, MDB270, MDB278, MDB279, MDB286, MDB312, MDB314, MDB315, MDB317, MDB319, MDB321, MDB327, MDB331, MDB332, MDB338, MDB340, MDB346, MDB350, MDB352, MDB358, MDB359, MDB360, MDB367, MDB374, MDB378, MDB390, MDB391, MDB392, MDB393, MDB394, MDB397, MDB399, MDB401, MDB402, MDB410, MDB418, MDB424, MDB427, MDB431, MDB437, MDB439, MDB440, MDB443, MDB448, MDB452, MDB456, MDB459, MDB463, MDB466, MDB467, MDB470, MDB471, MDB473, MDB479, MDB480, MDB481, MDB486, MDB487, MDB494, MDB498, MDB504, MDB506, MDB511, MDB515, MDB518, MDB520, MDB522, MDB524, MDB531, MDB538, MDB543, MDB168, MDB171, MDB257, MDB329, MDB108, MDB320

Links

Humpath: 3476

Observed in MDB cases

In malformative diseases :

del(10)(p12p14) disease

Observed in combinaisons (MDB)

Observed in malformative diseases (MDB)

() in cases MDB, MDB, MDB, MDB, MDB, MDB, MDB, MDB, MDB, MDB, MDB

Associated genes in profile

Associated genes in malformative diseases

Associated chromosomal diseases

Associated signaling pathways

Associated developmental anomalies

Here is the list of developmental anomalies associated with this developmental anomaly, based on the cases' information :

Low-set ears 4.64% (70/1510 anomalies), in cases MDB9, MDB17, MDB21, MDB29, MDB34, MDB44, MDB47, MDB48, MDB53, MDB68, MDB70, MDB72, MDB96, MDB100, MDB101, MDB106, MDB109, MDB112, MDB124, MDB134, MDB136, MDB339, MDB151, MDB166, MDB186, MDB198, MDB205, MDB214, MDB215, MDB216, MDB217, MDB226, MDB227, MDB238, MDB258, MDB260, MDB261, MDB270, MDB312, MDB319, MDB321, MDB327, MDB331, MDB332, MDB350, MDB352, MDB359, MDB390, MDB399, MDB402, MDB410, MDB424, MDB427, MDB437, MDB443, MDB459, MDB470, MDB471, MDB473, MDB504, MDB506, MDB515, MDB518, MDB520, MDB522, MDB543, MDB168, MDB171, MDB257, MDB329
Hypertelorism 3.44% (52/1510 anomalies), in cases MDB26, MDB47, MDB50, MDB72, MDB96, MDB97, MDB100, MDB104, MDB105, MDB124, MDB125, MDB136, MDB139, MDB145, MDB151, MDB154, MDB166, MDB178, MDB193, MDB198, MDB214, MDB215, MDB217, MDB227, MDB238, MDB240, MDB270, MDB315, MDB321, MDB331, MDB338, MDB346, MDB352, MDB358, MDB367, MDB374, MDB393, MDB394, MDB439, MDB448, MDB459, MDB473, MDB479, MDB480, MDB481, MDB486, MDB515, MDB520, MDB522, MDB257, MDB108, MDB320
Pulmonary hypoplasia 2.72% (41/1510 anomalies), in cases MDB9, MDB11, MDB28, MDB29, MDB30, MDB36, MDB37, MDB44, MDB50, MDB56, MDB100, MDB104, MDB107, MDB109, MDB125, MDB186, MDB200, MDB202, MDB214, MDB226, MDB227, MDB238, MDB261, MDB266, MDB327, MDB359, MDB367, MDB391, MDB392, MDB443, MDB456, MDB463, MDB471, MDB487, MDB518, MDB524, MDB531, MDB168, MDB171, MDB329, MDB108
Placenta hypoplasia 2.65% (40/1510 anomalies), in cases MDB29, MDB37, MDB40, MDB47, MDB48, MDB54, MDB56, MDB100, MDB101, MDB136, MDB139, MDB339, MDB154, MDB200, MDB215, MDB258, MDB261, MDB263, MDB266, MDB278, MDB286, MDB315, MDB317, MDB321, MDB332, MDB338, MDB358, MDB359, MDB452, MDB463, MDB471, MDB473, MDB504, MDB520, MDB522, MDB531, MDB543, MDB171, MDB329, MDB320
Intrauterine growth retardation, symmetric 2.58% (39/1510 anomalies), in cases MDB11, MDB53, MDB72, MDB101, MDB105, MDB115, MDB136, MDB339, MDB215, MDB263, MDB266, MDB270, MDB278, MDB286, MDB314, MDB321, MDB332, MDB338, MDB340, MDB358, MDB359, MDB367, MDB378, MDB390, MDB391, MDB399, MDB418, MDB431, MDB452, MDB467, MDB471, MDB473, MDB480, MDB481, MDB486, MDB520, MDB522, MDB168, MDB329
Retrognathia 2.25% (34/1510 anomalies), in cases MDB21, MDB40, MDB50, MDB100, MDB136, MDB339, MDB178, MDB270, MDB279, MDB332, MDB350, MDB358, MDB359, MDB360, MDB367, MDB391, MDB394, MDB397, MDB399, MDB402, MDB431, MDB437, MDB456, MDB466, MDB470, MDB471, MDB481, MDB487, MDB504, MDB506, MDB518, MDB524, MDB543, MDB168
Micrognathia 1.92% (29/1510 anomalies), in cases MDB9, MDB17, MDB48, MDB101, MDB104, MDB107, MDB134, MDB145, MDB172, MDB200, MDB216, MDB217, MDB238, MDB240, MDB263, MDB286, MDB312, MDB314, MDB315, MDB317, MDB374, MDB378, MDB448, MDB467, MDB473, MDB479, MDB171, MDB257, MDB320
Talipes equinovarus, bilateral 1.52% (23/1510 anomalies), in cases MDB5, MDB29, MDB50, MDB104, MDB112, MDB115, MDB193, MDB205, MDB215, MDB238, MDB266, MDB317, MDB327, MDB331, MDB338, MDB391, MDB393, MDB401, MDB418, MDB431, MDB479, MDB480, MDB257
Prominent and pointed nose 1.39% (21/1510 anomalies), in cases MDB34, MDB106, MDB202, MDB216, MDB217, MDB286, MDB317, MDB327, MDB332, MDB352, MDB360, MDB378, MDB390, MDB391, MDB431, MDB437, MDB466, MDB470, MDB487, MDB524, MDB531
Clindodactyly of 5th finger, bilateral 1.39% (21/1510 anomalies), in cases MDB48, MDB56, MDB96, MDB107, MDB142, MDB145, MDB200, MDB215, MDB217, MDB226, MDB279, MDB315, MDB319, MDB331, MDB350, MDB391, MDB481, MDB486, MDB487, MDB515, MDB168
Short neck 1.32% (20/1510 anomalies), in cases MDB40, MDB172, MDB215, MDB260, MDB270, MDB319, MDB331, MDB338, MDB367, MDB374, MDB440, MDB467, MDB470, MDB479, MDB486, MDB487, MDB498, MDB506, MDB329, MDB320
Broad nasal bridge 1.26% (19/1510 anomalies), in cases MDB40, MDB47, MDB48, MDB50, MDB100, MDB104, MDB105, MDB107, MDB124, MDB198, MDB215, MDB226, MDB321, MDB427, MDB439, MDB486, MDB504, MDB520, MDB320
Low nasal bridge 1.06% (16/1510 anomalies), in cases MDB9, MDB26, MDB44, MDB145, MDB172, MDB260, MDB331, MDB338, MDB350, MDB397, MDB410, MDB443, MDB470, MDB471, MDB515, MDB108
Single umblical artery (SUA)-Isolated 1.06% (16/1510 anomalies), in cases MDB9, MDB30, MDB53, MDB56, MDB70, MDB105, MDB115, MDB215, MDB278, MDB358, MDB359, MDB391, MDB418, MDB427, MDB448, MDB487
Macroglossia 0.99% (15/1510 anomalies), in cases MDB3, MDB5, MDB17, MDB24, MDB30, MDB32, MDB72, MDB97, MDB145, MDB186, MDB200, MDB227, MDB270, MDB319, MDB171
Neck edema 0.99% (15/1510 anomalies), in cases MDB17, MDB29, MDB109, MDB198, MDB200, MDB227, MDB263, MDB279, MDB321, MDB367, MDB443, MDB470, MDB506, MDB520, MDB543
Long philtrum 0.99% (15/1510 anomalies), in cases MDB29, MDB44, MDB68, MDB172, MDB270, MDB378, MDB397, MDB467, MDB486, MDB511, MDB518, MDB531, MDB257, MDB329, MDB320
Triangular face 0.99% (15/1510 anomalies), in cases MDB34, MDB53, MDB106, MDB186, MDB314, MDB317, MDB327, MDB332, MDB359, MDB390, MDB399, MDB431, MDB437, MDB452, MDB522
Epicanthus 0.93% (14/1510 anomalies), in cases MDB5, MDB24, MDB29, MDB32, MDB36, MDB124, MDB125, MDB134, MDB139, MDB151, MDB178, MDB200, MDB214, MDB217
Coarctation of aorta, 0.93% (14/1510 anomalies), in cases MDB53, MDB96, MDB101, MDB105, MDB125, MDB136, MDB142, MDB178, MDB286, MDB367, MDB391, MDB402, MDB427, MDB494
Transverse palmar crease, bilateral 0.86% (13/1510 anomalies), in cases MDB5, MDB30, MDB32, MDB124, MDB125, MDB134, MDB142, MDB227, MDB440, MDB443, MDB448, MDB481, MDB515
Sloping forehead 0.86% (13/1510 anomalies), in cases MDB11, MDB24, MDB26, MDB26, MDB105, MDB112, MDB154, MDB198, MDB200, MDB226, MDB258, MDB279, MDB327
Ventricular septal defect, muscular 0.86% (13/1510 anomalies), in cases MDB36, MDB53, MDB101, MDB390, MDB391, MDB399, MDB401, MDB418, MDB440, MDB452, MDB515, MDB257, MDB329
Adrenal hypoplasia, fetal 0.86% (13/1510 anomalies), in cases MDB72, MDB186, MDB286, MDB358, MDB367, MDB392, MDB440, MDB452, MDB459, MDB486, MDB487, MDB520, MDB168
Lobulated, fused and horseshoe kidney 0.79% (12/1510 anomalies), in cases MDB48, MDB53, MDB101, MDB332, MDB359, MDB391, MDB399, MDB439, MDB440, MDB487, MDB257, MDB320
Wide space between 1st and 2nd toes, bilateral 0.79% (12/1510 anomalies), in cases MDB96, MDB107, MDB142, MDB216, MDB266, MDB279, MDB367, MDB401, MDB437, MDB456, MDB466, MDB470
Microretrognathia 0.79% (12/1510 anomalies), in cases MDB105, MDB109, MDB258, MDB327, MDB331, MDB410, MDB424, MDB427, MDB498, MDB511, MDB520, MDB531
Microcephaly 0.73% (11/1510 anomalies), in cases MDB17, MDB21, MDB54, MDB68, MDB104, MDB166, MDB258, MDB263, MDB315, MDB473, MDB329
Nonimmune hydrops fetalis (NIHF) 0.73% (11/1510 anomalies), in cases MDB28, MDB36, MDB72, MDB109, MDB125, MDB339, MDB214, MDB479, MDB481, MDB168, MDB257
Corpus callosum agenesis 0.73% (11/1510 anomalies), in cases MDB37, MDB54, MDB139, MDB166, MDB258, MDB263, MDB394, MDB443, MDB473, MDB481, MDB329
Flattened nose 0.73% (11/1510 anomalies), in cases MDB100, MDB104, MDB193, MDB214, MDB258, MDB263, MDB440, MDB456, MDB467, MDB329, MDB320
Arthrogryposis 0.73% (11/1510 anomalies), in cases MDB193, MDB238, MDB392, MDB401, MDB479, MDB511, MDB520, MDB522, MDB543, MDB257, MDB329
Single transverse palmar crease, unilateral 0.66% (10/1510 anomalies), in cases MDB3, MDB24, MDB136, MDB260, MDB270, MDB319, MDB321, MDB331, MDB397, MDB410
Posteriorly inclined and low-positioned ears 0.66% (10/1510 anomalies), in cases MDB40, MDB172, MDB418, MDB440, MDB479, MDB481, MDB487, MDB494, MDB524, MDB320
Macrocephaly 0.66% (10/1510 anomalies), in cases MDB47, MDB50, MDB70, MDB100, MDB125, MDB193, MDB202, MDB217, MDB358, MDB437
Mongoloid slope of the palpebral fissures 0.6% (9/1510 anomalies), in cases MDB24, MDB68, MDB97, MDB145, MDB200, MDB227, MDB338, MDB410, MDB515
Narrow thorax 0.6% (9/1510 anomalies), in cases MDB44, MDB286, MDB358, MDB467, MDB471, MDB486, MDB487, MDB518, MDB108
Clindodactyly of 5th finger, unilateral 0.6% (9/1510 anomalies), in cases MDB53, MDB136, MDB139, MDB166, MDB216, MDB338, MDB367, MDB518, MDB522
Rocker-bottom feet 0.6% (9/1510 anomalies), in cases MDB68, MDB105, MDB205, MDB401, MDB440, MDB479, MDB481, MDB515, MDB522
Flat face 0.53% (8/1510 anomalies), in cases MDB5, MDB36, MDB37, MDB44, MDB68, MDB145, MDB186, MDB227
Intestinal malrotation 0.53% (8/1510 anomalies), in cases MDB5, MDB100, MDB125, MDB136, MDB391, MDB399, MDB402, MDB504
Nephromegaly, bilateral 0.53% (8/1510 anomalies), in cases MDB37, MDB68, MDB104, MDB109, MDB278, MDB346, MDB459, MDB511
Thin upper lip 0.46% (7/1510 anomalies), in cases MDB36, MDB44, MDB47, MDB346, MDB360, MDB378, MDB320
Thalamic nuclei centrum medianum fusion 0.46% (7/1510 anomalies), in cases MDB37, MDB54, MDB68, MDB258, MDB263, MDB340, MDB329
Limbs hypoplasia 0.46% (7/1510 anomalies), in cases MDB44, MDB50, MDB106, MDB172, MDB278, MDB471, MDB108
Exophthalmos, bilateral 0.46% (7/1510 anomalies), in cases MDB47, MDB263, MDB286, MDB358, MDB393, MDB480, MDB486
Large anterior fontanelle 0.46% (7/1510 anomalies), in cases MDB53, MDB106, MDB431, MDB470, MDB471, MDB487, MDB543
Bladder hypoplasia 0.46% (7/1510 anomalies), in cases MDB104, MDB278, MDB346, MDB374, MDB418, MDB511, MDB531
Right bilobate lung 0.46% (7/1510 anomalies), in cases MDB105, MDB109, MDB145, MDB193, MDB215, MDB226, MDB518
Flattened occiput 0.4% (6/1510 anomalies), in cases MDB5, MDB40, MDB68, MDB107, MDB172, MDB227
Ventricular septal defect, membranous 0.4% (6/1510 anomalies), in cases MDB5, MDB109, MDB205, MDB331, MDB470, MDB506
Cystic hygroma 0.4% (6/1510 anomalies), in cases MDB5, MDB260, MDB391, MDB168, MDB257, MDB329
Omphalocele 0.4% (6/1510 anomalies), in cases MDB9, MDB70, MDB100, MDB109, MDB359, MDB487
Hypotelorisme 0.4% (6/1510 anomalies), in cases MDB37, MDB68, MDB172, MDB463, MDB504, MDB538
Overlapping fingers 0.4% (6/1510 anomalies), in cases MDB100, MDB101, MDB105, MDB238, MDB399, MDB518
Cerebral ventriculomegaly 0.4% (6/1510 anomalies), in cases MDB145, MDB172, MDB193, MDB217, MDB481, MDB520
Cleft palate, median posterior 0.4% (6/1510 anomalies), in cases MDB215, MDB431, MDB467, MDB498, MDB518, MDB320
Cleft palate, bilateral 0.4% (6/1510 anomalies), in cases MDB238, MDB332, MDB452, MDB481, MDB168, MDB257
Hypogenesis of the Cerebellar Vermis 0.4% (6/1510 anomalies), in cases MDB278, MDB352, MDB359, MDB427, MDB443, MDB329
Dilatation of ureter , bilateral, congenital 0.33% (5/1510 anomalies), in cases MDB5, MDB125, MDB439, MDB329, MDB320
Meckel diverticulum 0.33% (5/1510 anomalies), in cases MDB11, MDB37, MDB101, MDB136, MDB346
Multicystic renal dysplasia,bilateral 0.33% (5/1510 anomalies), in cases MDB29, MDB215, MDB278, MDB418, MDB320
Retroplacental hemorrhage 0.33% (5/1510 anomalies), in cases MDB34, MDB70, MDB134, MDB186, MDB543
Myelomeningocele, lumbosacral 0.33% (5/1510 anomalies), in cases MDB37, MDB193, MDB378, MDB397, MDB439
Cleft palate with cleft lip,bilateral, complete 0.33% (5/1510 anomalies), in cases MDB37, MDB261, MDB402, MDB418, MDB459
Splenomegaly, congenital 0.33% (5/1510 anomalies), in cases MDB37, MDB109, MDB393, MDB463, MDB524
Microtia 0.33% (5/1510 anomalies), in cases MDB37, MDB202, MDB346, MDB410, MDB467
Hydrocephalus 0.33% (5/1510 anomalies), in cases MDB47, MDB100, MDB202, MDB217, MDB394
Olfactory bulbs, absence of 0.33% (5/1510 anomalies), in cases MDB54, MDB166, MDB258, MDB340, MDB480
Microstomia 0.33% (5/1510 anomalies), in cases MDB54, MDB68, MDB172, MDB340, MDB320
Frontal bossing 0.33% (5/1510 anomalies), in cases MDB68, MDB70, MDB202, MDB471, MDB257
Hexadactyly, postaxial 0.33% (5/1510 anomalies), in cases MDB68, MDB104, MDB109, MDB321, MDB168
Hypoplasia of ascending aorta 0.33% (5/1510 anomalies), in cases MDB105, MDB205, MDB340, MDB439, MDB494
Cleft palate with cleft lip (CLP), median 0.33% (5/1510 anomalies), in cases MDB109, MDB112, MDB166, MDB504, MDB538
Defective developement of left ventricle 0.33% (5/1510 anomalies), in cases MDB125, MDB136, MDB340, MDB463, MDB494
Relative Macrocephaly 0.33% (5/1510 anomalies), in cases MDB151, MDB193, MDB392, MDB518, MDB108
Badly-hemmed ears 0.33% (5/1510 anomalies), in cases MDB166, MDB186, MDB205, MDB214, MDB320
Renal pelvis dilatation, bilateral 0.33% (5/1510 anomalies), in cases MDB198, MDB346, MDB394, MDB439, MDB320
Pulmonary artery hypoplasia 0.33% (5/1510 anomalies), in cases MDB205, MDB346, MDB418, MDB481, MDB504
Dextrocardia, isolated 0.33% (5/1510 anomalies), in cases MDB240, MDB367, MDB391, MDB418, MDB437
Toe hypoplasia, first, bilateral 0.33% (5/1510 anomalies), in cases MDB263, MDB314, MDB350, MDB402, MDB448
Triploidy, Maternal, nonmolar (triploidy by digyny) 0.33% (5/1510 anomalies), in cases MDB286, MDB332, MDB358, MDB543, MDB171
Large nose, fetal 0.33% (5/1510 anomalies), in cases MDB312, MDB448, MDB531, MDB543, MDB171
Polydactyly,of the hand, postaxial 0.33% (5/1510 anomalies), in cases MDB340, MDB346, MDB440, MDB463, MDB473
Unilobate lung, unilateral 0.26% (4/1510 anomalies), in cases MDB5, MDB202, MDB215, MDB518
Dolicocephaly 0.26% (4/1510 anomalies), in cases MDB21, MDB134, MDB393, MDB481
Aberrant right subclavian artery 0.26% (4/1510 anomalies), in cases MDB30, MDB145, MDB440, MDB463
Polydactyly of both fingers & toes, postaxial 0.26% (4/1510 anomalies), in cases MDB37, MDB136, MDB427, MDB459
Rachischisis 0.26% (4/1510 anomalies), in cases MDB37, MDB193, MDB439, MDB518
Holoprosencephaly, alobar 0.26% (4/1510 anomalies), in cases MDB37, MDB68, MDB340, MDB463
Syndactyly, simple (webbed), fingers 0.26% (4/1510 anomalies), in cases MDB53, MDB72, MDB238, MDB286
Semilobar holoprosencephaly 0.26% (4/1510 anomalies), in cases MDB54, MDB166, MDB258, MDB473
Ureter hypoplasia 0.26% (4/1510 anomalies), in cases MDB104, MDB394, MDB418, MDB511
Persistent left superior vena cava 0.26% (4/1510 anomalies), in cases MDB105, MDB418, MDB481, MDB494
Pulmonary artery dilatation, fetal 0.26% (4/1510 anomalies), in cases MDB105, MDB136, MDB332, MDB340
Thymic hypoplasia 0.26% (4/1510 anomalies), in cases MDB109, MDB440, MDB481, MDB518
Imperforate Anus 0.26% (4/1510 anomalies), in cases MDB115, MDB402, MDB439, MDB481
Gastroschisis 0.26% (4/1510 anomalies), in cases MDB166, MDB440, MDB480, MDB518
Gothic palate 0.26% (4/1510 anomalies), in cases MDB172, MDB263, MDB479, MDB320
Camptodactyly, bilateral 0.26% (4/1510 anomalies), in cases MDB172, MDB266, MDB401, MDB504
Arnold-Chiari Type II malformation (CM II) 0.26% (4/1510 anomalies), in cases MDB193, MDB378, MDB397, MDB439
Short philtrum 0.26% (4/1510 anomalies), in cases MDB198, MDB258, MDB440, MDB473
Arhinia 0.26% (4/1510 anomalies), in cases MDB205, MDB261, MDB340, MDB480
Single cerebral ventricule 0.26% (4/1510 anomalies), in cases MDB258, MDB263, MDB340, MDB473
Stenosis of aqueduct of Sylvius 0.26% (4/1510 anomalies), in cases MDB315, MDB352, MDB439, MDB257
Cerebellar hypoplasia 0.26% (4/1510 anomalies), in cases MDB315, MDB340, MDB392, MDB329
Syndactyly of the fingers, complex, bilateral 0.26% (4/1510 anomalies), in cases MDB332, MDB358, MDB402, MDB171
Small round skull 0.2% (3/1510 anomalies), in cases MDB3, MDB32, MDB107
Overlapping toes 0.2% (3/1510 anomalies), in cases MDB5, MDB327, MDB448
Preauricular hamartoma 0.2% (3/1510 anomalies), in cases MDB5, MDB391, MDB391
Ascites, fetal 0.2% (3/1510 anomalies), in cases MDB9, MDB109, MDB214
Scoliosis, congenital 0.2% (3/1510 anomalies), in cases MDB9, MDB105, MDB238
Communicating hydrocephalus 0.2% (3/1510 anomalies), in cases MDB17, MDB21, MDB443
Giant omphalocele 0.2% (3/1510 anomalies), in cases MDB29, MDB53, MDB473
Foot edema 0.2% (3/1510 anomalies), in cases MDB29, MDB394, MDB520
Wide space between 1st and 2nd toes, unilateral 0.2% (3/1510 anomalies), in cases MDB30, MDB124, MDB327
Pleural effusion, fetal 0.2% (3/1510 anomalies), in cases MDB30, MDB214, MDB456
Renal hypoplasia 0.2% (3/1510 anomalies), in cases MDB36, MDB374, MDB171
Lumbosacral agenesis 0.2% (3/1510 anomalies), in cases MDB47, MDB439, MDB518
Renal pelvis dilatation, unilateral 0.2% (3/1510 anomalies), in cases MDB53, MDB321, MDB374
Optic nerve, absence of, bilateral 0.2% (3/1510 anomalies), in cases MDB54, MDB166, MDB340
Aortic valve stenosis, congenital 0.2% (3/1510 anomalies), in cases MDB105, MDB136, MDB172
Right atrium Enlargement 0.2% (3/1510 anomalies), in cases MDB105, MDB109, MDB136
Decreased skull bone mineralization 0.2% (3/1510 anomalies), in cases MDB106, MDB261, MDB266
Bowing of long bones 0.2% (3/1510 anomalies), in cases MDB106, MDB266, MDB108
Atrioventricular - channel 0.2% (3/1510 anomalies), in cases MDB125, MDB260, MDB410
Tonsillar herniation of the cerebellum 0.2% (3/1510 anomalies), in cases MDB193, MDB352, MDB439
Nasal hypoplasia 0.2% (3/1510 anomalies), in cases MDB200, MDB263, MDB538
Dandy-Walker malformation 0.2% (3/1510 anomalies), in cases MDB202, MDB352, MDB427
Tetralogy of Fallot 0.2% (3/1510 anomalies), in cases MDB205, MDB346, MDB504
Pulmonary valve atresia 0.2% (3/1510 anomalies), in cases MDB205, MDB346, MDB504
Right ventricular hypertrophy 0.2% (3/1510 anomalies), in cases MDB205, MDB346, MDB504
Micromelia 0.2% (3/1510 anomalies), in cases MDB215, MDB266, MDB108
Microphthalmia 0.2% (3/1510 anomalies), in cases MDB215, MDB261, MDB257
Olfactory nerve, absence of, bilateral 0.2% (3/1510 anomalies), in cases MDB258, MDB340, MDB480
Syndactyly of the toes, unilateral 0.2% (3/1510 anomalies), in cases MDB278, MDB467, MDB171
Long umbilical cord 0.2% (3/1510 anomalies), in cases MDB278, MDB522, MDB524
Hepatomegaly, fetal 0.2% (3/1510 anomalies), in cases MDB279, MDB393, MDB524
Pterygium colli 0.2% (3/1510 anomalies), in cases MDB321, MDB391, MDB392
Syndactyly of the toes, complex, bilateral 0.2% (3/1510 anomalies), in cases MDB332, MDB346, MDB431
Hydronephrosis, congenital, bilateral 0.2% (3/1510 anomalies), in cases MDB340, MDB329, MDB320
Dextroposition of aorta 0.2% (3/1510 anomalies), in cases MDB346, MDB481, MDB504
Malformed ear 0.2% (3/1510 anomalies), in cases MDB346, MDB359, MDB431
Hydrocephalus, Non-communicating 0.2% (3/1510 anomalies), in cases MDB352, MDB439, MDB257
Renal agenesis, unilateral 0.2% (3/1510 anomalies), in cases MDB358, MDB481, MDB498
Ureteral duplication, complete, unilateral 0.2% (3/1510 anomalies), in cases MDB358, MDB481, MDB487
Renal agenesis, bilateral 0.2% (3/1510 anomalies), in cases MDB402, MDB518, MDB531
Tracheoesophageal fistula (TEF), and esophageal atresia, Type C 0.13% (2/1510 anomalies), in cases MDB5, MDB257
Bladder wall thickness 0.13% (2/1510 anomalies), in cases MDB5, MDB320
Amnion nodosum 0.13% (2/1510 anomalies), in cases MDB5, MDB402
Polysplenia 0.13% (2/1510 anomalies), in cases MDB5, MDB68
Relative Microcephaly 0.13% (2/1510 anomalies), in cases MDB11, MDB36
Axillary pterygia,unilateral 0.13% (2/1510 anomalies), in cases MDB29, MDB105
Micropenis 0.13% (2/1510 anomalies), in cases MDB37, MDB402
Oligodactyly 0.13% (2/1510 anomalies), in cases MDB40, MDB480
short nose 0.13% (2/1510 anomalies), in cases MDB40, MDB319
Tetra-amelia 0.13% (2/1510 anomalies), in cases MDB47, MDB467
Pes cavus 0.13% (2/1510 anomalies), in cases MDB48, MDB72
hypoplasia of the rib 0.13% (2/1510 anomalies), in cases MDB53, MDB473
Radial ray agenesis, unilateral 0.13% (2/1510 anomalies), in cases MDB53, MDB431
Anophthalmos, bilateral 0.13% (2/1510 anomalies), in cases MDB54, MDB480
Diaphragmatic hernia, congenital 0.13% (2/1510 anomalies), in cases MDB56, MDB100
Absence of one paire the rib 0.13% (2/1510 anomalies), in cases MDB56, MDB227
Lymphedema of the neck 0.13% (2/1510 anomalies), in cases MDB70, MDB494
Renal focal cystic dilatation of collecting tubules 0.13% (2/1510 anomalies), in cases MDB100, MDB393
Aortic valve atresia 0.13% (2/1510 anomalies), in cases MDB101, MDB332
Gracile ribs 0.13% (2/1510 anomalies), in cases MDB105, MDB109
Platyspondyly 0.13% (2/1510 anomalies), in cases MDB105, MDB108
dextro-Transposition of the great arteries 0.13% (2/1510 anomalies), in cases MDB105, MDB440
Osteogenesis imperfecta, Type II 0.13% (2/1510 anomalies), in cases MDB106, MDB266
Right ventricle dilatation 0.13% (2/1510 anomalies), in cases MDB109, MDB136
Tricuspid valve dysplasia 0.13% (2/1510 anomalies), in cases MDB109, MDB473
Fingers amputation 0.13% (2/1510 anomalies), in cases MDB112, MDB166
Constriction Ring Deformity of the upper limbs 0.13% (2/1510 anomalies), in cases MDB115, MDB166
Hypoplasia of the aortic isthmus 0.13% (2/1510 anomalies), in cases MDB125, MDB340
Periventricular Leukomalacia (PVL) 0.13% (2/1510 anomalies), in cases MDB134, MDB498
Dysplasia of deep nuclei (olive dysplasia) 0.13% (2/1510 anomalies), in cases MDB151, MDB257
Marginal subchorionic hematoma 0.13% (2/1510 anomalies), in cases MDB186, MDB524
Interauricular communication 0.13% (2/1510 anomalies), in cases MDB202, MDB473
Cubital deviation of the hand, unilateral 0.13% (2/1510 anomalies), in cases MDB205, MDB479
Axillary pterygia, bilateral 0.13% (2/1510 anomalies), in cases MDB238, MDB392
Hypogenesis of pyramidal tracts 0.13% (2/1510 anomalies), in cases MDB258, MDB257
Micro Multicystic kidneys, medullary type 0.13% (2/1510 anomalies), in cases MDB260, MDB456
Acrocephaly 0.13% (2/1510 anomalies), in cases MDB261, MDB448
Holoprosencephaly, lobar 0.13% (2/1510 anomalies), in cases MDB263, MDB329
Macrostomia 0.13% (2/1510 anomalies), in cases MDB315, MDB543
Placental hypermaturity 0.13% (2/1510 anomalies), in cases MDB332, MDB392
Proboscis 0.13% (2/1510 anomalies), in cases MDB340, MDB463
Bulbous nose 0.13% (2/1510 anomalies), in cases MDB346, MDB443
Unilobate lung, bilateral 0.13% (2/1510 anomalies), in cases MDB358, MDB257
Hand edema 0.13% (2/1510 anomalies), in cases MDB374, MDB394
Anotia 0.13% (2/1510 anomalies), in cases MDB391, MDB467
Pectus excavatum 0.13% (2/1510 anomalies), in cases MDB391, MDB393
Hypospadias, penile 0.13% (2/1510 anomalies), in cases MDB394, MDB459
Pena Shokeir syndrome , Type I 0.13% (2/1510 anomalies), in cases MDB401, MDB479
Dislocation of hip, unilateral 0.13% (2/1510 anomalies), in cases MDB401, MDB431
Ureter agenesis, bilateral 0.13% (2/1510 anomalies), in cases MDB402, MDB531
Right aortic arch 0.13% (2/1510 anomalies), in cases MDB418, MDB518
Aplasia cutis congenita, scalp 0.13% (2/1510 anomalies), in cases MDB427, MDB504
Scaphoid abdomen 0.13% (2/1510 anomalies), in cases MDB431, MDB439
Hydromyelia 0.13% (2/1510 anomalies), in cases MDB439, MDB329
Absence of the Septum Pellucidum 0.13% (2/1510 anomalies), in cases MDB443, MDB481
Persistent truncus arteriosus 0.13% (2/1510 anomalies), in cases MDB452, MDB518
Single-nostril nose 0.13% (2/1510 anomalies), in cases MDB463, MDB538
Small mouth 0.13% (2/1510 anomalies), in cases MDB479, MDB257
Teratoma, cerebral 0.13% (2/1510 anomalies), in cases MDB480, MDB480
Ambiguous genitalia 0.13% (2/1510 anomalies), in cases MDB481, MDB531
Polymicrogyria, focal 0.13% (2/1510 anomalies), in cases MDB329, MDB329
Megacystis 0.13% (2/1510 anomalies), in cases MDB329, MDB320
Atrial Hypertrophy 0.07% (1/1510 anomalies), in case MDB5
Fusion of the adrenal glands 0.07% (1/1510 anomalies), in case MDB5
Microsplenia 0.07% (1/1510 anomalies), in case MDB5
Lung agenesis, unilateral 0.07% (1/1510 anomalies), in case MDB5
Varus deviation of fingers 0.07% (1/1510 anomalies), in case MDB9
Enophtalmus 0.07% (1/1510 anomalies), in case MDB11
Palpebral hypoplasia 0.07% (1/1510 anomalies), in case MDB11
Prognathism, maxillary 0.07% (1/1510 anomalies), in case MDB11
Asplenia 0.07% (1/1510 anomalies), in case MDB11
Frontal bone hypoplasia 0.07% (1/1510 anomalies), in case MDB11
Cubital deviation of the hand, bilateral 0.07% (1/1510 anomalies), in case MDB11
Synophrys 0.07% (1/1510 anomalies), in case MDB24
Thumb agenesis, bilateral 0.07% (1/1510 anomalies), in case MDB28
Tridactyly, unilateral 0.07% (1/1510 anomalies), in case MDB29
vertebral bones and gracile ribs with multiple abnormalities 0.07% (1/1510 anomalies), in case MDB29
absence of radius, bilateral 0.07% (1/1510 anomalies), in case MDB40
Ulna,absence of, bilateral 0.07% (1/1510 anomalies), in case MDB40
Cornélia de Lange syndrome 0.07% (1/1510 anomalies), in case MDB40
Chondrodysplasia punctata 0.07% (1/1510 anomalies), in case MDB44
Hitchhiker thumb 0.07% (1/1510 anomalies), in case MDB50
Bowing of long bones of leg, congenital 0.07% (1/1510 anomalies), in case MDB50
Dislocation of the radial head, congenital 0.07% (1/1510 anomalies), in case MDB50
Diastrophic Dysplasia 0.07% (1/1510 anomalies), in case MDB50
Microglossia 0.07% (1/1510 anomalies), in case MDB54
cutaneous edema, fetal 0.07% (1/1510 anomalies), in case MDB56
Vertex aplasia cutis (ACC) 0.07% (1/1510 anomalies), in case MDB68
Cebocephaly 0.07% (1/1510 anomalies), in case MDB68
Incomplete and partial hydatidiform mole 0.07% (1/1510 anomalies), in case MDB72
Diandric triploidy 0.07% (1/1510 anomalies), in case MDB72
Cleft lip 0.07% (1/1510 anomalies), in case MDB72
Left ventricular hypotrophy 0.07% (1/1510 anomalies), in case MDB96
Syndactyly of the feet , simple (webbed), bilateral 0.07% (1/1510 anomalies), in case MDB101
Syndactyly of the feet , simple (webbed), unilateral 0.07% (1/1510 anomalies), in case MDB101
Turned-up nose 0.07% (1/1510 anomalies), in case MDB101
Potter deformity sequence 0.07% (1/1510 anomalies), in case MDB104
Encephalocele, occipital 0.07% (1/1510 anomalies), in case MDB104
Autosomal Recessive Polycystic Kidney Disease 0.07% (1/1510 anomalies), in case MDB104
Renal-hepatic-pancreatic dysplasia 0.07% (1/1510 anomalies), in case MDB104
Cubital pterygium, bilateral 0.07% (1/1510 anomalies), in case MDB105
Right ventricular hypoplasia 0.07% (1/1510 anomalies), in case MDB105
Aortic isthmus stenosis 0.07% (1/1510 anomalies), in case MDB105
snub-nosed 0.07% (1/1510 anomalies), in case MDB105
Polyhydramnios 0.07% (1/1510 anomalies), in case MDB105
Cleft palate, bilateral, complete 0.07% (1/1510 anomalies), in case MDB105
Bones and gracile ribs with multiple fractures 0.07% (1/1510 anomalies), in case MDB106
Trilobate lung, left 0.07% (1/1510 anomalies), in case MDB107
Patent Foramen Ovale 0.07% (1/1510 anomalies), in case MDB109
Polydactyly of the foot 0.07% (1/1510 anomalies), in case MDB112
Thumb agenesis, unilateral 0.07% (1/1510 anomalies), in case MDB115
Crossed fused renal ectopia 0.07% (1/1510 anomalies), in case MDB115
Encephalocele, parietal 0.07% (1/1510 anomalies), in case MDB115
Infarcted placenta 0.07% (1/1510 anomalies), in case MDB134
Neuroepithelial cysts of the third ventricule,congenital 0.07% (1/1510 anomalies), in case MDB139
Renal hypoplasia, bilateral 0.07% (1/1510 anomalies), in case MDB339
Cerebellar asymmetry 0.07% (1/1510 anomalies), in case MDB154
Brainstem asymmetry 0.07% (1/1510 anomalies), in case MDB154
Dentate nucleus malformation 0.07% (1/1510 anomalies), in case MDB154
Abnormal formation of the cerebellar gyri 0.07% (1/1510 anomalies), in case MDB154
Exencephaly 0.07% (1/1510 anomalies), in case MDB166
Cortical dysgenesis (CD), diffuse 0.07% (1/1510 anomalies), in case MDB166
Absence of hippocampal commissure 0.07% (1/1510 anomalies), in case MDB166
Turricephaly 0.07% (1/1510 anomalies), in case MDB172
Plantar vertical crease between 1st and 2nd toes, bilateral 0.07% (1/1510 anomalies), in case MDB172
Wide spaced hypoplastic nipples 0.07% (1/1510 anomalies), in case MDB172
Left ventricular hypertrophy, 0.07% (1/1510 anomalies), in case MDB178
long straight nose 0.07% (1/1510 anomalies), in case MDB178
Placental amniotic bands 0.07% (1/1510 anomalies), in case MDB186
Meroanencephaly 0.07% (1/1510 anomalies), in case MDB186
Beaked midbrain 0.07% (1/1510 anomalies), in case MDB193
Recessed forehead 0.07% (1/1510 anomalies), in case MDB200
Congenitally Corrected Transposition of the Great Arteries 0.07% (1/1510 anomalies), in case MDB202
Cleft palate with cleft lip, unilateral, complete 0.07% (1/1510 anomalies), in case MDB205
wrist hyperextension, unilateral 0.07% (1/1510 anomalies), in case MDB205
Prominence of nasofrontal angle 0.07% (1/1510 anomalies), in case MDB217
Renal hypertropy, fetal, bilateral 0.07% (1/1510 anomalies), in case MDB238
Endocardial fibroelastosis 0.07% (1/1510 anomalies), in case MDB240
Neuronal migration anomaly 0.07% (1/1510 anomalies), in case MDB258
Glial heterotopia, multi-focal 0.07% (1/1510 anomalies), in case MDB258
Absence of first finger, unilateral 0.07% (1/1510 anomalies), in case MDB263
Fissure of the upper gingiva, fetal 0.07% (1/1510 anomalies), in case MDB263
Spina bifida occulta, lombosacral 0.07% (1/1510 anomalies), in case MDB278
Camptodactyly, unilateral 0.07% (1/1510 anomalies), in case MDB278
Syndactyly of the fingers, complex, unilateral 0.07% (1/1510 anomalies), in case MDB286
Wide space between 4th and 5th toes, unilateral 0.07% (1/1510 anomalies), in case MDB312
Foot valgus 0.07% (1/1510 anomalies), in case MDB312
Intrauterine growth retardation, asymmetric 0.07% (1/1510 anomalies), in case MDB312
Levocardia 0.07% (1/1510 anomalies), in case MDB319
Brachycephaly 0.07% (1/1510 anomalies), in case MDB331
Trigonocephaly 0.07% (1/1510 anomalies), in case MDB340
Cyclopia 0.07% (1/1510 anomalies), in case MDB340
Hypoplastic left heart syndrome (HLHS) 0.07% (1/1510 anomalies), in case MDB340
Mitral valve stenosis 0.07% (1/1510 anomalies), in case MDB340
Bicornuate uterus 0.07% (1/1510 anomalies), in case MDB340
Pachygyria 0.07% (1/1510 anomalies), in case MDB340
Dysplastic kidney with tubular cysts 0.07% (1/1510 anomalies), in case MDB346
Talipes equinovarus,unilateral 0.07% (1/1510 anomalies), in case MDB346
Aglossia 0.07% (1/1510 anomalies), in case MDB358
Dermoid cyst of the ovary 0.07% (1/1510 anomalies), in case MDB358
Diaphragmatic hernia,unilateral 0.07% (1/1510 anomalies), in case MDB367
Dilatation of the ascending aorta, congenital 0.07% (1/1510 anomalies), in case MDB367
Ureter stenosis, proximal, unilateral 0.07% (1/1510 anomalies), in case MDB374
Hydronephrosis, congenital, unilateral 0.07% (1/1510 anomalies), in case MDB374
Limbs hypoplasia, lower extremities 0.07% (1/1510 anomalies), in case MDB378
Absence of diaphragm, left 0.07% (1/1510 anomalies), in case MDB391
Multiple pterygium 0.07% (1/1510 anomalies), in case MDB392
Popliteal pterygium 0.07% (1/1510 anomalies), in case MDB392
sSpinal motor neurons [Ventral (motor) roots], agenesis or hypogenesis 0.07% (1/1510 anomalies), in case MDB392
Purkinje cell ectopia in the cerebellum 0.07% (1/1510 anomalies), in case MDB392
Cerebellar granular layer, absence or hypogenesis of 0.07% (1/1510 anomalies), in case MDB392
Multiple pterygium syndrome 0.07% (1/1510 anomalies), in case MDB392
Bladder dilatation, fetal 0.07% (1/1510 anomalies), in case MDB394
Stenosis of the mid ureter, congenital, left side 0.07% (1/1510 anomalies), in case MDB394
Overlapping nose bones 0.07% (1/1510 anomalies), in case MDB401
Left vertebral artery aberration 0.07% (1/1510 anomalies), in case MDB401
Fraser syndrome 0.07% (1/1510 anomalies), in case MDB402
Subglottic Stenosis (CSS) 0.07% (1/1510 anomalies), in case MDB402
Non-segmented lung 0.07% (1/1510 anomalies), in case MDB402
Bladder agenesis 0.07% (1/1510 anomalies), in case MDB402
Left side appendix 0.07% (1/1510 anomalies), in case MDB402
Pyloric stenosis 0.07% (1/1510 anomalies), in case MDB402
Unicorn Uterus 0.07% (1/1510 anomalies), in case MDB418
Fallopian tube, absence of 0.07% (1/1510 anomalies), in case MDB418
Cystic dilatation of the fourth ventricle 0.07% (1/1510 anomalies), in case MDB427
Anomalous pulmonary veins connection to superior & inferior vena cava 0.07% (1/1510 anomalies), in case MDB427
Hypoplastic left atrium and ventricle 0.07% (1/1510 anomalies), in case MDB427
Hypoplastic right atrium 0.07% (1/1510 anomalies), in case MDB427
Thumb hypoplasia,unilateral 0.07% (1/1510 anomalies), in case MDB431
Wide space between 2nd and third fingers 0.07% (1/1510 anomalies), in case MDB431
Nasal Clefts 0.07% (1/1510 anomalies), in case MDB437
Megarectum 0.07% (1/1510 anomalies), in case MDB439
Flexion contracture of the fingers 0.07% (1/1510 anomalies), in case MDB440
Placenta villous fibrosis 0.07% (1/1510 anomalies), in case MDB448
Cleft lip, unilateral 0.07% (1/1510 anomalies), in case MDB452
small intestinal atresia and stenosis 0.07% (1/1510 anomalies), in case MDB456
Micromulticystic kidneys 0.07% (1/1510 anomalies), in case MDB459
Truncus bicaroticus 0.07% (1/1510 anomalies), in case MDB463
Mucus accumulation in small intestine. 0.07% (1/1510 anomalies), in case MDB466
Otopaladigital syndrome, Type II; 0.07% (1/1510 anomalies), in case MDB467
Polydactyly postaxial & preaxial of toes 0.07% (1/1510 anomalies), in case MDB467
Thumb malformation & mal-implanted 0.07% (1/1510 anomalies), in case MDB467
Choanal Atresia 0.07% (1/1510 anomalies), in case MDB467
Deep gray nuclear malformations(the caudate nuclei, thalami,..) 0.07% (1/1510 anomalies), in case MDB473
Incomplete cleavage of cerebral hemispheres 0.07% (1/1510 anomalies), in case MDB473
Myelomeningocele,thoracolumbar 0.07% (1/1510 anomalies), in case MDB473
Polydactyly of the hand, preaxial 0.07% (1/1510 anomalies), in case MDB473
Pulmonary valve dysplasia 0.07% (1/1510 anomalies), in case MDB473
Placental hydrops 0.07% (1/1510 anomalies), in case MDB479
Limb-body-wall complex syndrome 0.07% (1/1510 anomalies), in case MDB480
Primordial iris 0.07% (1/1510 anomalies), in case MDB480
Arhinencephaly 0.07% (1/1510 anomalies), in case MDB480
Clivus, absence of 0.07% (1/1510 anomalies), in case MDB480
Posterior cranial fossa dismorphisme 0.07% (1/1510 anomalies), in case MDB480
Short umbilical cord 0.07% (1/1510 anomalies), in case MDB480
Rudimentary radius and ulna (unilateral) 0.07% (1/1510 anomalies), in case MDB480
Renal hypoplasia, unilateral 0.07% (1/1510 anomalies), in case MDB481
Presence of an infantile uterus with both testes 0.07% (1/1510 anomalies), in case MDB481
Probst bundle 0.07% (1/1510 anomalies), in case MDB481
Anencephaly 0.07% (1/1510 anomalies), in case MDB486
Trilobate lung, bilateral 0.07% (1/1510 anomalies), in case MDB487
Bicuspid aortic valve 0.07% (1/1510 anomalies), in case MDB494
Cutaneous bud 0.07% (1/1510 anomalies), in case MDB504
Hypoplasia of diaphragm 0.07% (1/1510 anomalies), in case MDB506
Potter's facies 0.07% (1/1510 anomalies), in case MDB511
Agenesia of internal genital organs 0.07% (1/1510 anomalies), in case MDB518
Vertebral hypoplasia, dorsolumbar 0.07% (1/1510 anomalies), in case MDB518
Rib deformation with abnormal numbers, bilateral 0.07% (1/1510 anomalies), in case MDB518
Underdeveloped pelvic bones 0.07% (1/1510 anomalies), in case MDB518
Partial agenesis of the corpus callosum (PACC) 0.07% (1/1510 anomalies), in case MDB520
Hypoplasia of the humerus, bilateral 0.07% (1/1510 anomalies), in case MDB522
Hypoplasia of the liver 0.07% (1/1510 anomalies), in case MDB168
Prominent upper lip 0.07% (1/1510 anomalies), in case MDB329
Micromelia, lower limb, unilateral 0.07% (1/1510 anomalies), in case MDB329
Thanatophoric dysplasia (Type I) 0.07% (1/1510 anomalies), in case MDB108
Brachydactyly 0.07% (1/1510 anomalies), in case MDB108
Shortening of metacarpal bones, congenital 0.07% (1/1510 anomalies), in case MDB108
Shortening of metatarsal bones, Congenital 0.07% (1/1510 anomalies), in case MDB108
Posterior urethral valves, congenital 0.07% (1/1510 anomalies), in case MDB320
Hypospadias, Glandular 0.07% (1/1510 anomalies), in case MDB320

Terminology and coding

	WHO ICD-10: Q75.9

References

No reference related to Facial dysmorphism is available at the moment.

Last modified: 2008-12-11 19:32:17 by farideh

Created: 2008-02-25 00:00:00 by phsaw

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