361 (72.1%)
|
Mosaic trisomy 9
|
Finger clinodactyly
内眼角外方偏位
口蓋裂
小肢症
小顎
Mosaic trisomy 9 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intellectual disability, growth and developmental delay, facial dysmorphism (incl. microphthalmia, deep-set eyes, low-set, malformed ears, bulbous nose, high-arched palate, micrognathia) and congenital heart defects (e.g. ventricular septal defect), as well as urogenital (e.g. hypoplastic genitalia, cryptorchidism), skeletal (congenital joint dislocations or hyperflexion, scoliosis/kyphosis) and central nervous system anomalies (hydrocephalus, Dandy-Walker malformation). Pigmentary mosaic skin lesions along the lines of Blaschko are also frequently observed.
>> 翻訳 (Google)
Orphanet:99776
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
361 (72.1%)
|
Marfan syndrome
---- Marfan 症候群(MFS)
|
くも指
口蓋裂
四肢近位短縮
小顎
眼瞼裂斜下
常染色体優性遺伝
Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.
>> 翻訳 (Google)
Orphanet:558
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
KEGG:H00653
Gene Reviews
|
363 (72.1%)
|
Megalocornea-intellectual disability syndrome
|
先細りの指
内反膝
内眼角贅皮
小顎
短い人中
常染色体劣性遺伝
Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.
>> 翻訳 (Google)
Orphanet:2479
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|
363 (72.1%)
|
Cohen syndrome
---- Cohen 症候群
|
くも指
外反膝
小顎
眼瞼の異常
短い人中
常染色体劣性遺伝
Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.
>> 翻訳 (Google)
Orphanet:193
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
KEGG:H00940
Gene Reviews
|
365 (72.1%)
|
Multiple epiphyseal dysplasia, Lowry type
|
口蓋裂
四肢近位短縮
小顎
眼瞼裂斜上
孤発性
Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.
>> 翻訳 (Google)
Orphanet:166016
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|
365 (72.1%)
|
Desmosterolosis
---- デスモステロール症
|
内眼角贅皮
口蓋裂
小肢症
小顎
常染色体劣性遺伝
Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.
>> 翻訳 (Google)
Orphanet:35107
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
KEGG:H00617
|
367 (72.0%)
|
Aymé-Gripp syndrome
---- 短頭-難聴-白内障-小口-精神遅滞
|
先細りの指
大きな泉門
橈尺骨癒合
眼瞼裂斜下
薄い上口唇唇紅部
常染色体劣性遺伝
孤発性
Fine-Lubinsky syndrome is characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies.
>> 翻訳 (Google)
Orphanet:1272
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|
368 (72.0%)
|
Pfeiffer syndrome
---- Pfeiffer 症候群
|
下顎突出
幅広い母指
短い人中
短指症候群
開口
常染色体優性遺伝
Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.
>> 翻訳 (Google)
Orphanet:710
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
KEGG:H00458
KEGG:H01756
Gene Reviews
|
369 (71.9%)
|
Angelman syndrome
---- Angelman 症候群 (AS)
|
下顎突出
幅広い口
片側性口唇裂
短指症候群
常染色体優性遺伝
孤発性
A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.
>> 翻訳 (Google)
Orphanet:72
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
KEGG:H01732
Gene Reviews
|
370 (71.9%)
|
RIN2 syndrome
|
大頭
眼瞼裂斜下
短指症候群
長い人中
常染色体劣性遺伝
RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.
>> 翻訳 (Google)
Orphanet:217335
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
KEGG:H00906
|
371 (71.8%)
|
Harlequin ichthyosis
---- 魚鱗癬, 先天性, 常染色体劣性4B
|
口唇外反
外反(眼瞼)
短い足
常染色体劣性遺伝
Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.
>> 翻訳 (Google)
Orphanet:457
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
KEGG:H00733
Gene Reviews
|
371 (71.8%)
|
Multiple endocrine neoplasia type 2
---- 多発性内分泌腫瘍症2型
|
分厚い下口唇唇紅部
眼瞼の異常
膝蓋骨無形成無形成
Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia (see this term), a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC) (see these terms).
>> 翻訳 (Google)
Orphanet:653
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
373 (71.8%)
|
Autosomal dominant popliteal pterygium syndrome
|
小顎
眼瞼癒着
裂手
非正中口唇裂
常染色体優性遺伝
A rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
>> 翻訳 (Google)
Orphanet:1300
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
KEGG:H00611
Gene Reviews
|
373 (71.8%)
|
Zlotogora-Ogur syndrome
---- 口唇口蓋裂-外胚葉形成不全症候群
|
上口唇裂
小顎
掌蹠過角化症
眼瞼裂斜下
常染色体劣性遺伝
Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.
>> 翻訳 (Google)
Orphanet:3253
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|
375 (71.8%)
|
Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
|
内眼角外方偏位
小顎後退
第5指弯指
長い人中
Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism.
>> 翻訳 (Google)
Orphanet:228396
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
375 (71.8%)
|
Toluene embryopathy
---- 失調歩行-日光過敏性-低身長 (Fenton 1983)
|
先細りの指
内眼角贅皮
小顎
平坦な人中
A neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome.
>> 翻訳 (Google)
Orphanet:1920
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
375 (71.8%)
|
17q21.31 microduplication syndrome
|
内眼角贅皮
小顎
短い人中
第5指弯指
The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.
>> 翻訳 (Google)
Orphanet:217340
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|
375 (71.8%)
|
Non-distal trisomy 13q
|
小顎
睫毛の異常
軸後性多指症
長い人中
Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.
>> 翻訳 (Google)
Orphanet:1702
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
375 (71.8%)
|
Craniofacial dyssynostosis
|
内眼角贅皮
小顎
短い人中
第5指弯指
常染色体劣性遺伝
孤発性
Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I (see this term), venous anomalies of skull and hydrocephalus.
>> 翻訳 (Google)
Orphanet:1516
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|
375 (71.8%)
|
Flat face-microstomia-ear anomaly syndrome
|
内眼角外方偏位
小顎
屈指
長い人中
常染色体優性遺伝
Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994.
>> 翻訳 (Google)
Orphanet:1968
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|
375 (71.8%)
|
Fallot complex-intellectual disability-growth delay syndrome
|
ばち指
小顎
眼瞼裂斜下
薄い上口唇唇紅部
常染色体劣性遺伝
Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.
>> 翻訳 (Google)
Orphanet:3304
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|
375 (71.8%)
|
Ring chromosome 10 syndrome
|
先細りの指
小顎
眼瞼裂斜下
長い人中
An autosomal anomaly characterized by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic features. Congenital heart disease and genitourinary anomalies were reported in some cases.
>> 翻訳 (Google)
Orphanet:1438
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
375 (71.8%)
|
Miller-Dieker syndrome
---- ミラー・ディーカー症候群
|
上口唇の異常
内眼角贅皮
小顎
第5指弯指
常染色体優性遺伝
連続遺伝子症候群
Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.
>> 翻訳 (Google)
Orphanet:531
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
Gene Reviews
|
375 (71.8%)
|
Cardiocranial syndrome, Pfeiffer type
|
小顎
幅広い人中
眼瞼裂斜下
細い指
常染色体優性遺伝
常染色体劣性遺伝
Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit).
>> 翻訳 (Google)
Orphanet:2872
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|
375 (71.8%)
|
6q25 microdeletion syndrome
|
内眼角贅皮
小顎
第5指弯指
長い人中
6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.
>> 翻訳 (Google)
Orphanet:251056
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|
375 (71.8%)
|
Global developmental delay-osteopenia-ectodermal defect syndrome
|
Clinodactyly of the 2nd finger
内眼角贅皮
小顎
長い人中
This syndrome is characterised by the association of global developmental delay, osteopenia and skin anomalies.
>> 翻訳 (Google)
Orphanet:73223
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
375 (71.8%)
|
Müllerian derivatives-lymphangiectasia-polydactyly syndrome
|
小顎
眼瞼裂斜下
薄い上口唇唇紅部
軸後性多指症
常染色体劣性遺伝
Müllerian derivatives-lymphangiectasia-polydactyly syndrome is characterised by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure.
>> 翻訳 (Google)
Orphanet:1655
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|
375 (71.8%)
|
Oculocerebrofacial syndrome, Kaufman type
|
くも指
上口唇の異常
内眼角贅皮
小顎
常染色体劣性遺伝
Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.
>> 翻訳 (Google)
Orphanet:2707
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
Gene Reviews
|
375 (71.8%)
|
Distal monosomy 3p
|
内眼角贅皮
小顎
軸後性多指症
長い人中
常染色体優性遺伝
Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.
>> 翻訳 (Google)
Orphanet:1620
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
KEGG:H01795
|
375 (71.8%)
|
16q24.3 microdeletion syndrome
|
小顎
平坦な人中
眼瞼裂斜上
近位母指
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.
>> 翻訳 (Google)
Orphanet:261250
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
375 (71.8%)
|
Lathosterolosis
---- ラソステロール症
|
内眼角贅皮
小顎
軸後性多指症
長い人中
常染色体劣性遺伝
Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.
>> 翻訳 (Google)
Orphanet:46059
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
KEGG:H01281
|
375 (71.8%)
|
Distal 22q11.2 microduplication syndrome
|
先細りの指
内眼角贅皮
小顎
平坦な人中
Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported.
>> 翻訳 (Google)
Orphanet:261337
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
375 (71.8%)
|
Baraitser-Winter cerebrofrontofacial syndrome
|
内眼角贅皮
小顎
母指指骨重複
長い人中
Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients.
>> 翻訳 (Google)
Orphanet:2995
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
375 (71.8%)
|
Trisomy 17p
|
先細りの指
小顎
平坦な人中
眼瞼裂斜下
Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.
>> 翻訳 (Google)
Orphanet:261290
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
375 (71.8%)
|
Monosomy 9p
|
内眼角贅皮
小顎
軸後性多指症
長い人中
常染色体優性遺伝
孤発性
Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.
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Orphanet:261112
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|
375 (71.8%)
|
FG syndrome type 1
|
小顎
母指の異常
眼瞼裂斜下
長い人中
X連鎖劣性遺伝
Orphanet:93932
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
KEGG:H00894
Gene Reviews
|
375 (71.8%)
|
7q11.23 microduplication syndrome
|
小顎
薄い上口唇唇紅部
長い指
長い睫毛
常染色体優性遺伝
7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short philtrum, thin upper lip and facial asymmetry). Hypotonia, developmental coordination disorders, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.
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Orphanet:96121
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
Gene Reviews
|
375 (71.8%)
|
22q11.2 deletion syndrome
---- 22q11.2欠失症候群
|
内眼角贅皮
多指症
小顎
短い人中
22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.
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Orphanet:567
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
399 (71.7%)
|
Ossification anomalies-psychomotor developmental delay syndrome
|
三角形の顔
小顎
浅い眼窩
短い第5指
Ossification anomalies-psychomotor developmental delay syndrome is characterised by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodelling during ossification.
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Orphanet:73230
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
400 (71.7%)
|
Acrorenal syndrome
---- 先端腎症候群
|
口蓋裂
小顎
尺骨の異常
橈骨無形成/低形成
常染色体劣性遺伝
A spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.
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Orphanet:971
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|
401 (71.6%)
|
Bannayan-Riley-Ruvalcaba syndrome
---- Cowden 症候群1
|
小顎
幅広い母指
狭い口蓋
長い人中
常染色体優性遺伝
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.
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Orphanet:109
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
Gene Reviews
|
402 (71.6%)
|
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
|
口蓋裂
小顎
短い大腿骨
短指症候群
舌根沈下
Orphanet:440354
画像検索 (Google)
症例報告検索
|
403 (71.5%)
|
Lymphedema-distichiasis syndrome
---- リンパ浮腫-二列睫毛症候群
|
上口唇裂
外反(眼瞼)
小顎
常染色体優性遺伝
Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.
>> 翻訳 (Google)
Orphanet:33001
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
KEGG:H02167
Gene Reviews
|
403 (71.5%)
|
Emanuel syndrome
---- Emanuel 症候群
|
小顎
眼瞼裂斜上
粘膜下口唇裂
Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.
>> 翻訳 (Google)
Orphanet:96170
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
KEGG:H01790
Gene Reviews
|
405 (71.4%)
|
Monosomy 5p
|
内眼角贅皮
小さい手
小顎後退
高口蓋
孤発性
Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.
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Orphanet:281
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
KEGG:H00764
|
405 (71.4%)
|
Hallermann-Streiff syndrome
---- Hallermann-Streiff 症候群
|
内眼角外方偏位
小さい手
小顎
舌の異常
孤発性
Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.
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Orphanet:2108
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|
405 (71.4%)
|
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
|
内眼角贅皮
小さい手
小顎
高口蓋
常染色体優性遺伝
A rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and, occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis.
>> 翻訳 (Google)
Orphanet:300570
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
KEGG:H01881
|
408 (71.4%)
|
Atelosteogenesis type III
|
小顎
握り手
短い長管骨 (手)
高口蓋
常染色体優性遺伝
A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
>> 翻訳 (Google)
Orphanet:56305
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
Gene Reviews
|
409 (71.4%)
|
Velo-facial-skeletal syndrome
|
内眼角贅皮
大きな手
歯の異常
短い手掌
常染色体優性遺伝
A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.
>> 翻訳 (Google)
Orphanet:3424
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|
409 (71.4%)
|
Autosomal recessive spastic paraplegia type 20
|
オーバーバイト
内眼角贅皮
小さい手
手形態異常
常染色体劣性遺伝
Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.
>> 翻訳 (Google)
Orphanet:101000
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
Gene Reviews
|
411 (71.4%)
|
Eiken syndrome
---- Eiken 症候群
|
仙骨欠損
幅広い手掌
短い手掌
腓骨低形成
常染色体劣性遺伝
A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slighly elevated. Oligodontia has been rarely associated.
>> 翻訳 (Google)
Orphanet:79106
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
KEGG:H00495
|
412 (71.3%)
|
49,XYYYY syndrome
|
小顎
橈尺骨癒合
短い第5指
粗な顔貌
49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.
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Orphanet:99330
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
413 (71.3%)
|
Recombinant 8 syndrome
|
上口唇裂
小顎
歯の異常
膝蓋骨無形成無形成
常染色体優性遺伝
Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.
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Orphanet:96167
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|
414 (71.3%)
|
Imperforate oropharynx-costovertebral anomalies syndrome
|
くも指
人中の異常
内眼角贅皮
肋骨欠損
Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.
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Orphanet:2759
画像検索 (Google)
症例報告検索
|
415 (71.2%)
|
Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
|
内眼角外方偏位
短い指末節骨
常染色体優性遺伝
Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988.
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Orphanet:1547
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|
415 (71.2%)
|
Dahlberg-Borer-Newcomer syndrome
|
内眼角外方偏位
幅広い鼻梁
短い指末節骨
常染色体劣性遺伝
X連鎖劣性遺伝
Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities.
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Orphanet:1563
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|
417 (71.2%)
|
Branchiogenic deafness syndrome
|
口蓋裂
短い指末節骨
常染色体優性遺伝
Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.
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Orphanet:50815
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|
417 (71.2%)
|
Early infantile epileptic encephalopathy
---- 早期乳児てんかん性脳症
|
口蓋裂
短い指
A severe form of age-related epileptic encephalopathies characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle, and that can occur hundreds of times per day, leading to psychomotor impairment and death.
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Orphanet:1934
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
419 (71.2%)
|
Nasopalpebral lipoma-coloboma syndrome
---- 眼瞼コロボーマ-脂肪腫症候群
|
上顎低形成
幅広い額
眼瞼裂
第5指弯指
常染色体優性遺伝
Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.
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Orphanet:2399
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|
420 (71.2%)
|
Verloove Vanhorick-Brubakk syndrome
|
口蓋裂
四肢成長不全
小顎
非正中口唇裂
Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.
>> 翻訳 (Google)
Orphanet:3429
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
UR-DBMS
|