121
(78.3%)

Hartsfield syndrome

下顎後退 橈骨無形成/低形成 眼瞼裂斜下 非正中口唇裂

常染色体優性遺伝

Hartsfield syndrome is a rare, genetic, developmental defect during embryogenesis malformation syndrome characterized by the association of variable degrees of holoprosencephaly and uni- or bilateral ectrodactyly of the hands and/or feet. Additional variable features, including facial dysmorphism (e.g. hypertelorism, short bulbous nose, long philtrum, dysplastic/low-set ears, cleft lip and palate, tented upper lip), other brain malformations (such as corpus callosum agenesis, absent septum pellucidum, absent olfactory bulbs/tracts, vermian hypoplasia), pituitary gland-related endocrine disorders (e.g. central diabetes insipidus, hypogonadotropic hypogonadism) and hypothalamic dysfunction, may be associated.  >> 翻訳 (Google)

122
(78.3%)

Gollop-Wolfgang complex
----
大腿骨, 片側性二分-単指性欠指

単指 唇裂 尺骨無形成/低形成

常染色体優性遺伝 常染色体劣性遺伝

Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur.  >> 翻訳 (Google)

123
(78.3%)

Short rib-polydactyly syndrome, Verma-Naumoff type

上口唇裂 内眼角贅皮 小肢症 小顎 短い手掌

Short rib-polydactyly syndrome, Verma-Naumoff type is a short rib-polydactyly syndrome characterized by short limb dwarfism, short ribs with thoracic dysplasia, postaxial polydactyly and protuberant abdomen. Associated multiple malformations include cardiovascular defects, renal agenesis /hypoplasia, abnormal cloacal development (ambiguous genitalia, anal atresia) and cerebellar hypoplasia. Short rib-polydactyly syndrome, Verma-Naumoff type follows an autosomal recessive mode of transmission. The disease is usually fatal in the perinatal period.  >> 翻訳 (Google)

124
(78.3%)

Femoral-facial syndrome
----
大腿骨-顔面症候群 (FFS)

小顎後退 橈尺骨癒合 眼瞼裂斜上 短い大腿骨 薄い上口唇唇紅部

孤発性

Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies.  >> 翻訳 (Google)

125
(78.3%)

Trisomy 4p

下顎後退 小さい手 平坦な人中 橈側内反手 眼瞼裂狭小

Trisomy 4p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 4, with a highly variable phenotype, typically characterized by pre- and postnatal growth delay, psychomotor developmental delay and craniofacial dysmorphism (microcephaly, prominent glabelle, hypertelorism, enlarged ears with abnormal helix and antihelix, bulbous nose with flat or depressed nasal bridge, long philtrum, retrognathia with pointed chin). Additional features include skeletal (rocker bottom feet, arachnodactyly, camptodactyly) and renal malformations, cardiac defects, ocular abnormalities and abnormal genitalia in males.  >> 翻訳 (Google)

126
(78.2%)

Floating-Harbor syndrome
----
Floating-Harbor 症候群

両側性口唇裂 内眼角外方偏位 幅広い母指 短い鎖骨 短指症候群

常染色体優性遺伝

A multiple congenital anomalies/dysmorphic syndrome-intellectual disability that is characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.  >> 翻訳 (Google)

127
(78.2%)

Progeroid syndrome, Petty type

下口唇唇紅部外反 下顎突出 内眼角贅皮 短い指末節骨

常染色体優性遺伝

Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.  >> 翻訳 (Google)

128
(78.1%)

Apert syndrome
----
Apert 症候群

下顎突出 幅広い母指 母指無形成/低形成 眼瞼裂斜下 短い上口唇

常染色体優性遺伝

A frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly.  >> 翻訳 (Google)

129
(78.1%)

Otopalatodigital syndrome type 2

口蓋裂 小肢症 小顎 眼瞼裂斜下 短い母指

X連鎖優性遺伝

A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.  >> 翻訳 (Google)

130
(78.1%)

Ring chromosome 13 syndrome

内眼角贅皮 小顎 手骨無形成/低形成 母指無形成/低形成 短い人中

Ring chromosome 13 is a chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia.  >> 翻訳 (Google)

130
(78.1%)

Multiple congenital anomalies-hypotonia-seizures syndrome

全指趾の均衡性短縮 内眼角贅皮 小顎後退 薄い上口唇唇紅部

常染色体劣性遺伝

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple congenital anomalies, such as cardiac (e.g. patent foramen ovale, atrial septal defect, patent ductus arteriosus), genitourinary (i.e. hydrocele, renal collecting system dilatation, hydroureter, hydronephrosis, hypertrophic trabecular urinary bladder) and gastrointestinal (incl. gastroesophageal reflux, anal stenosis, imperforate anus, ano-vestibular fistula) abnormalities, as well as facial dysmorphism which includes coarse facies, a prominent occiput, bitemporal narrowing, epicanthal folds, hypertelorism, nystagmus/strabismus/wandering eyes, low-set, large ears with auricle abnormalities, depressed nasal bridge, upturned nose, long philtrum, large, open mouth with thin lips, high-arched palate, and micro/retrognathia.  >> 翻訳 (Google)

132
(78.1%)

Tetrasomy 9p

内眼角贅皮 小さい手 小顎 正中口唇口蓋裂

Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism).  >> 翻訳 (Google)

133
(78.0%)

Noonan syndrome
----
Noonan 症候群 1 (NS1)

内眼角贅皮 分厚い下口唇唇紅部 小顎 橈尺骨癒合 短指症候群

Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.  >> 翻訳 (Google)

134
(77.9%)

Microcephaly-cardiac defect-lung malsegmentation syndrome

口蓋裂 小顎 眼瞼裂狭小 短い指末節骨

常染色体劣性遺伝

Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.  >> 翻訳 (Google)

134
(77.9%)

Short stature-craniofacial anomalies-genital hypoplasia syndrome

内眼角贅皮 口蓋裂 小顎後退 短い指末節骨

常染色体優性遺伝

Short stature-craniofacial anomalies-genital hypoplasia syndrome is characterized by the association of short stature, craniofacial anomalies and genital hypoplasia. Intellectual deficit is also found in the majority of cases, sometimes together with pterygia. Less than 20 cases have been described so far. The mode of transmission is likely to be autosomal dominant with incomplete penetrance. The syndrome is caused by unbalanced reciprocal translocations of the distal parts of chromosomes 6q and 9p, leading to partial trisomy of the distal region of chromosome 6q and partial monosomy of the distal region of chromosome 9p.  >> 翻訳 (Google)

136
(77.9%)

Acromegaloid facial appearance syndrome
----
末端肥大症様顔貌症候群

中手骨の異常 口唇の異常 大きな手 小顎 眼瞼裂狭小

常染色体優性遺伝

A rare multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome.  >> 翻訳 (Google)

137
(77.9%)

Otopalatodigital syndrome type 1

前頭洞低形成 口蓋裂 眼瞼裂斜下 短い手掌 短い母指

X連鎖優性遺伝

A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.  >> 翻訳 (Google)

138
(77.7%)

Baller-Gerold syndrome
----
Baller-Gerold 症候群

乏指症 内眼角贅皮 口蓋裂 小顎 橈骨欠損

常染色体劣性遺伝

Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).  >> 翻訳 (Google)

139
(77.6%)

Acheiropodia
----
無手足症

尺骨欠損 手欠損 腓骨無形成 骨幹端の異常

常染色体劣性遺伝

An extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.  >> 翻訳 (Google)

140
(77.6%)

Mucolipidosis type II
----
ムコリピドーシスII型

内眼角贅皮 手根骨低形成 短い長管骨 長い人中

常染色体劣性遺伝

Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.  >> 翻訳 (Google)

140
(77.6%)

Pitt-Hopkins syndrome
----
Pitt-Hopkins 症候群 (PTHS)

小さい手 眼瞼裂斜上 短い中足骨 短い人中

常染色体優性遺伝

Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.  >> 翻訳 (Google)

142
(77.5%)

Fetal hydantoin syndrome
----
胎児ヒダントイン症候群

下口唇唇紅部外反 内眼角贅皮 短い指末節骨

A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported.  >> 翻訳 (Google)

142
(77.5%)

Fountain syndrome
----
Fountain 症候群

内眼角贅皮 分厚い下口唇唇紅部 短い指末節骨

常染色体劣性遺伝

Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.  >> 翻訳 (Google)

144
(77.5%)

Peters plus syndrome

上口唇裂 内眼角外方偏位 小肢症 小顎 短指症候群

常染色体劣性遺伝

Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye (see this term) characterized by a variable phenotype including Peters anomaly (see this term) and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.  >> 翻訳 (Google)

145
(77.5%)

Phenobarbital embryopathy

下顎突出 内眼角贅皮 指の無形成/低形成 片側性口唇裂

A teratologic disorder associated with intrauterine exposure of phenorbarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases.  >> 翻訳 (Google)

146
(77.4%)

Hirschsprung disease
----
Hirschsprung 病への感受性1 (HSCR)

唇裂 小顎 眼瞼裂狭小 短い上腕骨

Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.  >> 翻訳 (Google)

147
(77.3%)

Acrofacial dysostosis, Catania type
----
肢端顔異骨症, Catania 型 (AFD, Catania 型)

小顎後退 平坦な人中 眼瞼裂斜下 短い手掌

常染色体優性遺伝

A very rare acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males.  >> 翻訳 (Google)

147
(77.3%)

X-linked intellectual disability, Armfield type

内眼角贅皮 小さい手 小顎 短い人中

X連鎖劣性遺伝

X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.  >> 翻訳 (Google)

147
(77.3%)

Distal monosomy 6p

内眼角贅皮 小顎 平坦な人中 短い手掌

孤発性

Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.  >> 翻訳 (Google)

147
(77.3%)

11q22.2q22.3 microdeletion syndrome

内眼角贅皮 小さい手 小顎 薄い上口唇唇紅部

11q22.2q22.3 microdeletion syndrome is a rare chromosomal anomaly characterized by mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported.  >> 翻訳 (Google)

147
(77.3%)

Monosomy 18p

内眼角贅皮 小さい手 小顎 短い人中

常染色体優性遺伝 孤発性

Monosomy 18p refers to a chromosomal disorder resulting from the deletion of all or part of the short arm of chromosome 18.  >> 翻訳 (Google)

152
(77.2%)

Trisomy 18
----
18番染色体トリソミー

内眼角贅皮 小顎後退 指の重なり 非正中口唇裂

Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations.  >> 翻訳 (Google)

153
(77.2%)

Williams syndrome
----
ウィリアムズ症候群

内眼角贅皮 内転母指 小顎 橈尺骨癒合 長い人中

常染色体優性遺伝

A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity).  >> 翻訳 (Google)

154
(77.2%)

Epilepsy-telangiectasia syndrome

短い第5指 結膜毛細血管拡張 長い人中

常染色体劣性遺伝

Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait.  >> 翻訳 (Google)

155
(77.1%)

C syndrome
----
C 症候群

内眼角贅皮 小顎 平坦な人中 橈骨頭脱臼 短指症候群

常染色体優性遺伝 常染色体劣性遺伝

C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.  >> 翻訳 (Google)

156
(77.0%)

Fryns syndrome
----
Fryns 症候群 (FRNS)

小顎 幅広い口 正中口唇裂 短い指末節骨

常染色体劣性遺伝

A rare multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.  >> 翻訳 (Google)

157
(76.9%)

Fetal alcohol syndrome
----
胎児性アルコール症候群

内眼角贅皮 小顎 橈尺骨癒合 非正中口唇裂

Fetal alcohol syndrome (FAS) is a rare malformation syndrome caused by excessive maternal consumption of alcohol during pregnancy. It is characterized by prenatal and/or postnatal growth deficiency (weight and/or height <10th percentile), a unique cluster of minor facial anomalies (short palpebral fissures, flat and smooth philtrum, and thin upper lip) and severe central nervous system (CNS) abnormalities including microcephaly, and cognitive and behavioral impairment (intellectual disability, deficit in general cognition, learning and language, executive function, visual-spatial processing, memory, and attention).  >> 翻訳 (Google)

158
(76.9%)

Cleft lip/palate-intestinal malrotation-cardiopathy syndrome

両側性口唇口蓋裂 小顎 幅広い母指 眼瞼裂斜上 第5指弯指

常染色体劣性遺伝

Cleft lip/palate-intestinal malrotation-cardiopathy is a multiple congenital anomaly syndrome characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs may be additionally observed.  >> 翻訳 (Google)

159
(76.8%)

Oculomaxillofacial dysostosis

上腕骨の異常 小顎 正中口唇裂 眼瞼の異常 短指症候群

Oculomaxillofacial dysostosis is a rare, genetic bone developmental disorder characterized by short stature, orbital region and ocular abnormalities (e.g. asymmetric orbits, anophthalmia, down-slanted and S-shaped palpebral fissures, sparse eyebrows/eyelashes, abnormal eyelids, ectropion, symblepharon, corneal leukoma), abnormal nose (e.g. broad and abnormally modeled nasal root, bridge and tip, lateral deviation), malar hypoplasia, cleft lip/palate, and oblique facial clefts. Intellectual disability, microcephaly, micrognathia and limb anomalies (e.g. hemimelia, abnormal scapular girdle, brachydactyly, syndactyly, broad halluces) have also been reported.  >> 翻訳 (Google)

160
(76.8%)

CHIME syndrome
----
コロボーマ-先天性心奇形-魚鱗癬型皮膚症-精神遅滞-耳介奇形症候群

内眼角贅皮 短い人中 短い手掌 鎖骨無形成

常染色体劣性遺伝

CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.  >> 翻訳 (Google)

161
(76.8%)

Spondyloepiphyseal dysplasia, Cantu type

分厚い上口唇唇紅部 四肢近位-中部-肢端性四肢短縮 眼瞼裂狭小 短い長管骨 短指症候群

常染色体優性遺伝

Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).  >> 翻訳 (Google)

162
(76.8%)

Congenital diaphragmatic hernia
----
先天性横隔膜ヘルニア

唇裂 外反(眼瞼) 小肢症 橈骨欠損 無指

Congenital diaphragmatic hernia (CDH) is a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension with high mortality.  >> 翻訳 (Google)

163
(76.7%)

Mesomelia-synostoses syndrome

小肢症 小顎 眼瞼裂斜下 短指症候群 長い人中

常染色体優性遺伝

Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.  >> 翻訳 (Google)

164
(76.7%)

Schizencephaly
----
裂脳症

両側性口唇裂 小顎 潜在眼球

常染色体優性遺伝 常染色体劣性遺伝

Schizencephaly is a rare congenital cerebral malformation characterized by the presence of linear clefts in one or both hemispheres of the brain, extending from the lateral ventricles to the pial surface of the cortex, and that lead to a variety of neurological symptoms such as epilepsy, motor deficits, and psychomotor retardation.  >> 翻訳 (Google)

165
(76.7%)

Dubowitz syndrome
----
Dubowitz 症候群

内眼角贅皮 小顎 幅広い母指 母指無形成/低形成 粘膜下硬口蓋裂

常染色体劣性遺伝

Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.  >> 翻訳 (Google)

166
(76.7%)

Ulnar-mammary syndrome
----
尺骨-乳房症候群

尺骨欠損 減歯症 短い指末節骨

常染色体優性遺伝

Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.  >> 翻訳 (Google)

167
(76.7%)

Myhre syndrome

下顎突出 片側性口唇裂 眼瞼裂狭小 短い手掌

常染色体優性遺伝

Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.  >> 翻訳 (Google)

168
(76.6%)

Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome

上顎低形成 内眼角贅皮 平坦な人中 母指欠損

常染色体優性遺伝

169
(76.6%)

Acromicric dysplasia
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小肢端性異形成

短い中手骨 短い手掌 長い人中 長い睫毛

常染色体優性遺伝

A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.  >> 翻訳 (Google)

169
(76.6%)

Intellectual disability-sparse hair-brachydactyly syndrome

幅広い指末節骨 平坦な人中 眼瞼裂斜下 短い手掌

常染色体優性遺伝 常染色体劣性遺伝

Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.  >> 翻訳 (Google)

171
(76.6%)

Tibial aplasia-ectrodactyly syndrome

尺骨無形成/低形成 耳輪の過剰な巻き込み 腓骨低形成

Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.  >> 翻訳 (Google)

172
(76.6%)

AREDYLD syndrome
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AREDYLD 症候群

下顎突出 平坦な人中 眼瞼裂斜上 短指症候群

常染色体劣性遺伝

A syndrome that has been described in three individuals, one of whom was born to consanguineous parents. All patients had lipoatrophy, diabetes mellitus, generalized hypotrichosis, ectodermal dysplasia, renal alterations, dental abnormalities and other manifestations. It is probably transmitted as an autosomal recessive trait.  >> 翻訳 (Google)

173
(76.5%)

Toriello-Lacassie-Droste syndrome

内眼角贅皮 眼瞼裂 短い手掌

常染色体優性遺伝 常染色体劣性遺伝

Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.  >> 翻訳 (Google)

174
(76.5%)

Orofaciodigital syndrome type 1

内眼角贅皮 小顎 正中口唇裂 短い趾 短指症候群

X連鎖優性遺伝

Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.  >> 翻訳 (Google)

175
(76.5%)

Anodontia
----
欠損歯

内眼角外方偏位 唇裂 小顎 無指

常染色体劣性遺伝

An extreme developmental dental anomaly characterized by the complete absence of all teeth.  >> 翻訳 (Google)

176
(76.5%)

Mosaic trisomy 1

小顎後退 握り手 眼瞼裂斜下 短い上口唇

176
(76.5%)

15q overgrowth syndrome

大きな手 小顎後退 平坦な人中 眼瞼裂斜下

A rare partial autosomal trisomy/tetrasomy characterized by facial dysmorphism (long thin face, prominent forehead, down-slanting palpebral fissures, prominent nose with broad nasal bridge, prominent chin), pre- and postnatal overgrowth, renal anomalies (e.g. horseshoe kidney, renal agenesis, hydronephrosis), mild to severe learning difficulties and behavioral abnormalities. Additional features may include craniosynostosis and macrocephaly.  >> 翻訳 (Google)

178
(76.5%)

XY type gonadal dysgenesis-associated anomalies syndrome

両頭頂径狭小 内眼角贅皮 大きな手 幅広い母指 非正中口唇裂

常染色体劣性遺伝

Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive.  >> 翻訳 (Google)

179
(76.3%)

Acrootoocular syndrome

小顎 無歯 眼瞼裂斜下 短い中手骨 短い指

常染色体劣性遺伝

A very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.  >> 翻訳 (Google)

179
(76.3%)

Frontometaphyseal dysplasia

不規則な中手骨 小顎 眼瞼裂斜下 短い母指末節骨 高口蓋

A rare multiple congenital anomalies/dysmorphic syndrome characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.  >> 翻訳 (Google)