181
(76.2%)

Distal monosomy 17q

人中の異常 小肢症 母指無形成/低形成 眼瞼裂斜上

A partial deletion of the long arm of chromosome 17 characterized by hypotonia, growth delay, severe global developmental delay, microcephaly, seizures, congenital heart anomalies, hand and foot anomalies (syndactyly, symphalangism) and dysmorphic facial features, including round face, hypertelorism, upslanting palpebral fissures, and micrognathia. Reported deletions involve regions 17q21-q24.  >> 翻訳 (Google)

182
(76.2%)

Aicardi syndrome
----
Aicardi 症候群 (AIC)

上口唇裂 小さい手 疎な外側眉毛 肋骨欠損

X連鎖優性遺伝

A rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females.  >> 翻訳 (Google)

183
(76.1%)

2q32q33 microdeletion syndrome

くも指 小顎 幅広い母指 眼瞼裂斜下 長い人中

常染色体優性遺伝

2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.  >> 翻訳 (Google)

183
(76.1%)

3p25.3 microdeletion syndrome

先細りの指 内眼角贅皮 小顎 幅広い母指 薄い上口唇唇紅部

3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements.  >> 翻訳 (Google)

185
(76.1%)

Antley-Bixler syndrome
----
アントレー・ビクスラー症候群

Proximal femoral focal deficiency 橈尺骨癒合 眼瞼裂斜下 長い人中

A very rare disorder characterised by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.  >> 翻訳 (Google)

186
(76.1%)

Tetrasomy 12p

内眼角外方偏位 分厚い上口唇唇紅部 小肢症 短い大腿骨

体細胞モザイク

Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.  >> 翻訳 (Google)

187
(76.0%)

Multiple osteochondromas

小顎 尺骨低形成 歯の異常

Multiple osteochondromas (MO) is characterised by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones.  >> 翻訳 (Google)

188
(76.0%)

Crossed polysyndactyly

人中の異常 母指無形成/低形成 眼瞼裂斜上

Crossed polysyndactyly is a rare, genetic, congenital limb malformation disorder characterized by unilateral or bilateral postaxial polydactyly in the hands and preaxial polydactyly in the feet, associated with bilateral cutaneous syndactyly of first, second and third toes. Cutaneous syndactyly in hands has also been reported in some patients. There have been no further descriptions in the literature since 1994.  >> 翻訳 (Google)

189
(75.9%)

Sheldon-Hall syndrome
----
関節拘縮症, 遠位, 2B 型 (DA2B)

内眼角贅皮 小顎 指の重なり 橈骨無形成/低形成 高口蓋

常染色体優性遺伝

Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.  >> 翻訳 (Google)

190
(75.9%)

Wilson-Turner syndrome

分厚い眉毛 小さい手 小顎 薄い上口唇唇紅部

X連鎖劣性遺伝 X連鎖優性遺伝

Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.  >> 翻訳 (Google)

191
(75.9%)

Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome

下顎後退 眼瞼裂斜下 短い手掌 長い人中

Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome is characterised by facial dysmorphology, neuropathic visceral dysmotility, neurogenic megacystis, intracerebral calcifications and developmental delay. It has been described in two siblings (brother and sister) born to consanguineous parents. The girl also had microcephaly and multicystic kidneys. The boy had a more extensive neuropathic visceral disorder, leading clinically to chronic intestinal pseudo-obstruction syndrome (CIPO).  >> 翻訳 (Google)

192
(75.8%)

Down syndrome
----
ダウン症候群

内眼角贅皮 分厚い下口唇唇紅部 短い大腿骨 短指症候群

孤発性

Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.  >> 翻訳 (Google)

193
(75.7%)

Urban-Rogers-Meyer syndrome
----
Prader-Willi 体型-骨粗鬆症-屈指

人中の異常 内眼角贅皮 小顎 短い足 短指症候群

常染色体劣性遺伝

This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.  >> 翻訳 (Google)

193
(75.7%)

Temtamy syndrome

内眼角外方偏位 小顎 短い趾 短指症候群 長い人中

常染色体劣性遺伝

Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.  >> 翻訳 (Google)

193
(75.7%)

Autosomal recessive faciodigitogenital syndrome

内眼角外方偏位 小顎 短い足 短指症候群 長い人中

常染色体劣性遺伝

A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.  >> 翻訳 (Google)

193
(75.7%)

Tetrasomy 5p

小顎 眼瞼裂斜上 短い母趾 長い人中

Tetrasomy 5p is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by developmental delay, growth retardation/short stature, hypotonia, seizures, venriculomegaly, hand and foot anomalies (e.g. clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (incl. macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).  >> 翻訳 (Google)

197
(75.7%)

Trisomy 12p

下口唇唇紅部外反 内眼角贅皮 外反膝 大きな手 小顎

A partial autosomal trisomy characterized by developmental delay and intellectual disability, generalized hypotonia, postnatal growth retardation, variable brain and heart anomalies and dysmorphic features, including frontal bossing, round face, full cheeks, low-set ears, broad nasal bridge, short nose with anteverted nares, long philtrum, thin upper lip vermilion, and everted, thick lower lip. Unspecific associated congenital anomalies have also been reported.  >> 翻訳 (Google)

198
(75.6%)

Kindler syndrome

口唇炎 外反(眼瞼) 短い第4中手骨

常染色体劣性遺伝

Kindler syndrome (KS) is the fourth major type of epidermolysis bullosa (EB), besides simplex, junctional and dystrophic forms, and is characterized by skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes.  >> 翻訳 (Google)

198
(75.6%)

2q37 microdeletion syndrome

眼瞼裂斜上 短い中手骨 短い手掌 短い足 薄い唇紅部縁

常染色体優性遺伝

Deletion 2q37 or monosomy 2q37 is a chromosomal anomaly involving deletion of chromosome band 2q37 and manifests as three major clinical findings: developmental delay, skeletal malformations and facial dysmorphism.  >> 翻訳 (Google)

200
(75.4%)

4q21 microdeletion syndrome

小肢症 短い人中 短い手掌 短い足 長い睫毛

孤発性

The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.  >> 翻訳 (Google)

201
(75.2%)

1p36 deletion syndrome
----
1p36欠失症候群

11 対肋骨 内眼角贅皮 短い足 短指症候群 長い人中

孤発性

1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.  >> 翻訳 (Google)

202
(75.2%)

Ulnar/fibula ray defect-brachydactyly syndrome

尺骨無形成/低形成 平坦な頬 短い第5指 短い足

常染色体優性遺伝

Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.  >> 翻訳 (Google)

203
(75.2%)

CHST3-related skeletal dysplasia

四肢近位短縮 短い中手骨 長い人中 高位の弓形眉毛

常染色体劣性遺伝

CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.  >> 翻訳 (Google)

204
(75.2%)

Osteogenesis imperfecta
----
骨形成不全症

小顎 正中口唇裂 短い長管骨 短指症候群

Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity.  >> 翻訳 (Google)

205
(75.2%)

Microtriplication 11q24.1

小さい手 平坦な人中 短い足 長い睫毛

Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophris, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia.  >> 翻訳 (Google)

205
(75.2%)

X-linked intellectual disability, Cabezas type

内眼角贅皮 短い人中 短い手掌 短い足

X連鎖劣性遺伝

An X-linked syndromic intellectual disability characterized by developmental delay, intellectual disability with significant speech impairment, and short stature in male patients. Variable additional clinical features have been associated, including macrocephaly, seizures, tremor, gait abnormalities, hypogonadism, truncal obesity, behavioral disturbances and unspecific facial dysmorphism.  >> 翻訳 (Google)

205
(75.2%)

Hypertelorism, Teebi type
----
両眼隔離, Teebi 型

小さい手 眼瞼裂斜下 短い趾 長い人中

常染色体優性遺伝

Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia (see this term), such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes (see these terms).  >> 翻訳 (Google)

205
(75.2%)

19p13.12 microdeletion syndrome

内眼角贅皮 短い手掌 長い人中

19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism.  >> 翻訳 (Google)

209
(75.1%)

8p23.1 microdeletion syndrome

先細りの指 内眼角贅皮 小顎 幅広い母指 薄い唇紅部縁

8p23.1 deletion involves a partial deletion of the short arm of chromosome 8 characterized by low birth weight, postnatal growth deficiency, mild intellectual deficit, hyperactivity, craniofacial abnormalities, and congenital heart defects.  >> 翻訳 (Google)

210
(75.1%)

1q21.1 microdeletion syndrome

内眼角贅皮 幅広い母指 短い足 長い人中

常染色体優性遺伝 孤発性

1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.  >> 翻訳 (Google)

211
(75.0%)

CHAND syndrome

交連部口唇小孔 眼瞼癒着 短い第5中足骨

常染色体劣性遺伝

212
(75.0%)

Autosomal recessive multiple pterygium syndrome

内眼角贅皮 小顎 膝蓋骨無形成無形成 長い人中

常染色体劣性遺伝

213
(75.0%)

Madelung deformity
----
マーデルング変形

小肢症 橈骨低形成 短い第4中手骨 腎症

Madelung disease, or deformity (MD) is a predominantly bilateral wrist anomaly characterized by shortened and bowed radii and long ulnae leading to dorsal dislocation of the distal ulna and limited mobility of the wrist and elbow.  >> 翻訳 (Google)

214
(74.9%)

Spondyloepiphyseal dysplasia, Nishimura type

上肢の片側萎縮 内眼角贅皮 小顎 細い指 長い人中

常染色体劣性遺伝

Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.  >> 翻訳 (Google)

214
(74.9%)

Distal trisomy 17q

内眼角贅皮 四肢近位短縮 多指症 小顎 薄い上口唇唇紅部

Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.  >> 翻訳 (Google)

216
(74.9%)

Schwartz-Jampel syndrome
----
Schwartz-Jampel 症候群 I 型 (SJS1)

小肢症 小顎 眼瞼裂狭小 長い人中

常染色体劣性遺伝

A rare syndrome characterised by myotonia and osteoarticular abnormalities.  >> 翻訳 (Google)

217
(74.9%)

Spondyloepimetaphyseal dysplasia, Irapa type
----
脊椎骨端骨幹端異形成, Irapa 型 (SEMDIT)

はと胸 上肢成長不全 小肢症 短い手掌

常染色体劣性遺伝

Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.  >> 翻訳 (Google)

218
(74.9%)

Ellis Van Creveld syndrome

小肢症 歯の異常 短い指末節骨 短い肋骨 薄い唇紅部縁

常染色体劣性遺伝

Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.  >> 翻訳 (Google)

219
(74.9%)

Atypical Werner syndrome

小顎 眉毛の無形成/低形成 短い手掌 薄い唇紅部縁

An heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.  >> 翻訳 (Google)

220
(74.8%)

Congenital glaucoma
----
先天性緑内障

内反(眼瞼) 小顎 短い指 舌根沈下

A developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm.  >> 翻訳 (Google)

221
(74.8%)

Maxillonasal dysplasia

下顎後退 口蓋裂 幅広い人中 短い指末節骨

常染色体優性遺伝 常染色体劣性遺伝 Heterogeneous 多因子性遺伝

Binder syndrome is a rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex.  >> 翻訳 (Google)

222
(74.7%)

Acrofacial dysostosis, Rodríguez type

乏指症 小顎後退 尺骨無形成/低形成 平坦な頬

常染色体劣性遺伝

A rare multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.  >> 翻訳 (Google)

223
(74.7%)

48,XXYY syndrome

内眼角贅皮 分厚い下口唇唇紅部 幅広い下顎 橈尺骨癒合 第5指弯指

A rare sex chromosome number anomaly disorder characterized, genetically, by the presence of an extra X and Y chromosome in males and, clinically, by tall stature, dysfunctional testes associated with infertility and insufficient testosterone production, cognitive, affective and social functioning impairments, global developmental delay, and an increased risk of congenital malformations.  >> 翻訳 (Google)

224
(74.7%)

Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome

くも指 下顎後退 幅広い母指 眼瞼裂斜下 薄い上口唇唇紅部

225
(74.7%)

20p12.3 microdeletion syndrome

上顎低形成 内眼角贅皮 幅広い母指 長い人中

20p12.3 microdeletion syndrome is a recently described syndrome characterized by Wolff-Parkinson-White syndrome (see this term), variable developmental delay and facial dysmorphism.  >> 翻訳 (Google)

226
(74.6%)

Craniofrontonasal dysplasia
----
頭蓋前頭鼻症候群

先天性鎖骨偽関節 口腔裂 幅広い母指 眼瞼裂斜下 短指症候群

X連鎖優性遺伝

Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.  >> 翻訳 (Google)

227
(74.6%)

Frank-Ter Haar syndrome
----
Frank-ter Haar 症候群

下顎突出 中手骨の異常 眼瞼裂斜下 短い人中 短指症候群

常染色体劣性遺伝

Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.  >> 翻訳 (Google)

228
(74.6%)

Intellectual disability-balding-patella luxation-acromicria syndrome

内眼角贅皮 短い趾 肢端四肢中部短縮 薄い上口唇唇紅部

X連鎖劣性遺伝

Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.  >> 翻訳 (Google)

229
(74.5%)

Tetrasomy 18p
----
テトラソミー 18p

下顎後退 内眼角贅皮 大きな手 長い人中

Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.  >> 翻訳 (Google)

230
(74.5%)

16p11.2p12.2 microdeletion syndrome

内眼角贅皮 口腔裂 小顎後退 短い手掌

孤発性

16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.  >> 翻訳 (Google)

231
(74.5%)

Tetraploidy
----
テトラプロイディー

口蓋裂 小顎 橈側内反手 短い人中

Tetraploidy is an extremely rare chromosomal anomaly, polyploidy, when an affected individual has four copies of each chromosome, instead of two, resulting in total of 92 chromosomes in each cell. The phenotype is severe with multiple congenital anomalies, including central nervous system, ocular, cardiac, renal, and/or genital malformations and limb defects. Most patients show severe intrauterine groth retardation, hypotonia, failure to thrive and developmental delay. It is usually associated with miscarriage.  >> 翻訳 (Google)

232
(74.4%)

Microlissencephaly-micromelia syndrome

11 対肋骨 内転母指 小肢症 眼瞼浮腫 長い人中

Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case.  >> 翻訳 (Google)

232
(74.4%)

Wiedemann-Steiner syndrome
----
Wiedemann-Steiner 症候群

先細りの指 内眼角外方偏位 四肢近位短縮 肋骨無形成/低形成 薄い上口唇唇紅部

常染色体優性遺伝 X連鎖劣性遺伝

Wiedemann-Steiner syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis cubiti, facial dysmorphism (hypertelorism, long eyelashes, thick eyebrows, downslanted, vertically narrow, long palpebral fissures, wide nasal bridge, broad nasal tip, long philtrum), developmental delay, and mild to moderate intellectual disability. It has a variable clinical phenotype with additional manifestations reported including muscular hypotonia, patent ductus arteriosus, small hands and feet, hypertrichosis on the back, behavioral difficulties, and seizures.  >> 翻訳 (Google)

234
(74.4%)

Genitopalatocardiac syndrome

小顎 眼瞼裂斜下 短指症候群 非正中口唇裂

常染色体劣性遺伝

Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.  >> 翻訳 (Google)

234
(74.4%)

Trisomy 8q

小顎 眼瞼裂斜上 短指症候群 非正中口唇裂

A partial autosomal trisomy characterized by developmental delay, intellectual disability, prenatal and postnatal growth retardation, congenital heart, genitourinary and skeletal anomalies, and dysmorphic facial features, including high and broad forehead, hypertelorism, upslanting palpebral fissures, broad nose, dysplastic and low set ears, micrognathia. Phenotypic features vary in relation to the duplication size.  >> 翻訳 (Google)

234
(74.4%)

Trisomy 9p

内眼角贅皮 小顎 短指症候群 非正中口唇裂

Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.  >> 翻訳 (Google)

234
(74.4%)

Smith-Magenis syndrome
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Smith-Magenis 症候群

上口唇裂 内眼角外方偏位 小顎 短指症候群

常染色体優性遺伝 孤発性

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.  >> 翻訳 (Google)

234
(74.4%)

Bifid uvula
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二分口蓋垂

内眼角外方偏位 小顎後退 片側性口唇裂 短指症候群

常染色体優性遺伝

Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.  >> 翻訳 (Google)

239
(74.4%)

Oculoauriculovertebral spectrum with radial defects

幅広い口 母指無形成/低形成 短い下顎枝 非正中口唇裂

常染色体優性遺伝

Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.  >> 翻訳 (Google)

240
(74.4%)

EEC syndrome

唇裂 母指無形成/低形成 眼瞼炎

常染色体劣性遺伝

EEC syndrome is a genetic developmental disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip/palate).  >> 翻訳 (Google)