101 (79.5%)
|
Poland syndrome
---- Poland 症候群
|
唇裂
尺骨の異常
短い指
短い肋骨
網膜過誤腫
常染色体優性遺伝
Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly.
>> 翻訳 (Google)
Orphanet:2911
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
|
102 (79.4%)
|
Cranioectodermal dysplasia
|
下口唇唇紅部外反
内眼角贅皮
四肢近位短縮
短い指
短い肋骨
Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).
>> 翻訳 (Google)
Orphanet:1515
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
103 (79.4%)
|
Spondyloperipheral dysplasia-short ulna syndrome
|
はと胸
小肢症
尺骨低形成
短い中手骨
常染色体優性遺伝
Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralization of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability.
>> 翻訳 (Google)
Orphanet:1856
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
|
104 (79.3%)
|
Ring chromosome 7 syndrome
|
下顎突出
内眼角贅皮
短い人中
短い第5指
Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).
>> 翻訳 (Google)
Orphanet:1449
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
105 (79.2%)
|
Phocomelia, Schinzel type
|
乏指症
口蓋裂
小顎
尺骨欠損
常染色体劣性遺伝
Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.
>> 翻訳 (Google)
Orphanet:2879
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:H00847
|
106 (79.1%)
|
Hypoglossia-hypodactyly syndrome
|
内眼角外方偏位
唇裂
小顎
指の無形成/低形成
短い指末節骨
常染色体優性遺伝
孤発性
A rare disease characterized by the association of aglossia (absence of tongue), adactylia (absence of fingers or toes) and limb, craniofacial and other, less frequent malformations.
>> 翻訳 (Google)
Orphanet:989
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
|
107 (79.1%)
|
Aminopterin/methotrexate embryofetopathy
|
内眼角贅皮
小肢症
小顎
母指無形成/低形成
非正中口唇裂
A syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy.
>> 翻訳 (Google)
Orphanet:1908
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
108 (79.0%)
|
Ruvalcaba syndrome
---- Ruvalcaba 症候群
|
小肢症
眼瞼裂斜下
短い中手骨
短い指
薄い唇紅部縁
常染色体優性遺伝
Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.
>> 翻訳 (Google)
Orphanet:3121
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
|
109 (79.0%)
|
Smith-Lemli-Opitz syndrome
---- Smith-Lemli-Opitz 症候群(SLOS)
|
内眼角贅皮
小顎
橈骨無形成/低形成
長い人中
常染色体劣性遺伝
Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.
>> 翻訳 (Google)
Orphanet:818
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:H00161
Gene Reviews
|
110 (78.9%)
|
Saethre-Chotzen syndrome
---- Saethre-Chotzen 症候群 (SCS)
|
上顎低形成
内眼角贅皮
口蓋裂
短い指
近位橈骨-尺骨癒合
常染色体優性遺伝
Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.
>> 翻訳 (Google)
Orphanet:794
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:H01991
Gene Reviews
|
111 (78.8%)
|
Oligodontia
---- 部分性無歯症
|
小顎
幅広い母指
片側性口唇裂
短指症候群
長い睫毛
Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth.
>> 翻訳 (Google)
Orphanet:99798
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
112 (78.7%)
|
Blomstrand lethal chondrodysplasia
|
内眼角外方偏位
小顎
短い中手骨
長い人中
常染色体劣性遺伝
Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.
>> 翻訳 (Google)
Orphanet:50945
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:H00508
|
113 (78.6%)
|
Brachytelephalangy-dysmorphism-Kallmann syndrome
|
内眼角外方偏位
短い指末節骨
薄い上口唇唇紅部
常染色体優性遺伝
Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome ; see this term). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986.
>> 翻訳 (Google)
Orphanet:1295
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
|
113 (78.6%)
|
Char syndrome
---- Char 症候群 (CHAR)
|
眼瞼裂斜下
短い人中
短い第5指中節骨
常染色体優性遺伝
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism (wide-set eyes, downslanting palpebral fissures, mild ptosis, flat midface, flat nasal bridge and upturned nasal tip, short philtrum with a triangular mouth, and thickened, everted lips) and hand anomalies (aplasia or hypoplasia of the middle phalanges of the fifth fingers).
>> 翻訳 (Google)
Orphanet:46627
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:H00555
Gene Reviews
|
113 (78.6%)
|
Hypertrichotic osteochondrodysplasia, Cantu type
|
内眼角贅皮
短い指末節骨
長い人中
常染色体優性遺伝
Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.
>> 翻訳 (Google)
Orphanet:1517
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
|
113 (78.6%)
|
Distal 22q11.2 microdeletion syndrome
|
眼瞼裂狭小
短い手掌
短い指末節骨
薄い上口唇唇紅部
Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.
>> 翻訳 (Google)
Orphanet:261330
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
|
117 (78.4%)
|
Ulnar hypoplasia-split foot syndrome
|
尺骨低形成
裂手
X連鎖劣性遺伝
Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.
>> 翻訳 (Google)
Orphanet:1122
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
|
117 (78.4%)
|
Upper limb mesomelic dysplasia
---- 尺骨低形成
|
尺骨低形成
橈側湾曲
腓骨無形成
常染色体優性遺伝
This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.
>> 翻訳 (Google)
Orphanet:2497
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
|
117 (78.4%)
|
Mesomelic dwarfism, Reinhardt-Pfeiffer type
|
小肢症
尺骨低形成
斜視
常染色体優性遺伝
A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.
>> 翻訳 (Google)
Orphanet:2634
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
|
120 (78.4%)
|
Acromegaly
---- 先端巨大症
|
下顎突出
分厚い下口唇唇紅部
大きな手
眼瞼浮腫
短い第5中手骨
An acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.
>> 翻訳 (Google)
Orphanet:963
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
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)
Orphanet:2117
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:H01850
Gene Reviews
|
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)
Orphanet:1986
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
|
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)
Orphanet:93271
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
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)
Orphanet:1988
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
|
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)
Orphanet:1738
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
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)
Orphanet:2044
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:H02082
Gene Reviews
|
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)
Orphanet:2963
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
|
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)
Orphanet:87
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:H01755
Gene Reviews
|
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)
Orphanet:90652
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
|
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)
Orphanet:96176
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
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)
Orphanet:280633
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:H01486
|
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)
Orphanet:3310
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
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)
Orphanet:648
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
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)
Orphanet:2516
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
|
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.
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Orphanet:2994
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
|
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.
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Orphanet:965
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
|
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.
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Orphanet:90650
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:H00456
Gene Reviews
|
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).
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Orphanet:1225
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:H01993
Gene Reviews
|
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.
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Orphanet:931
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:H00629
|
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)
Orphanet:576
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:H00143
Gene Reviews
|
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)
Orphanet:2896
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:H00756
Gene Reviews
|
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)
Orphanet:1912
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
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)
Orphanet:3219
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
|
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)
Orphanet:709
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
|
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)
Orphanet:1919
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
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)
Orphanet:388
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
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)
Orphanet:1786
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
|
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)
Orphanet:85276
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
|
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)
Orphanet:96125
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
|
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)
Orphanet:444002
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
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)
Orphanet:1598
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
|
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)
Orphanet:3380
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
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)
Orphanet:904
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:H01439
Gene Reviews
|
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)
Orphanet:1951
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
|
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)
Orphanet:1308
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:H01008
|
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)
Orphanet:2059
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
|
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)
Orphanet:1915
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
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)
Orphanet:2001
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
|
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)
Orphanet:1794
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
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)
Orphanet:3474
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:H01487
|
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)
Orphanet:163654
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
|
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)
Orphanet:2140
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
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)
Orphanet:2496
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
|
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)
Orphanet:799
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:H01160
|
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)
Orphanet:235
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
|
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)
Orphanet:3138
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:H00637
|
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.
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Orphanet:2588
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:H02102
Gene Reviews
|
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
Orphanet:500150
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:H01769
|
169 (76.6%)
|
Acromicric dysplasia
---- 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.
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Orphanet:969
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:H02228
|
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.
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Orphanet:3051
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:H01402
Gene Reviews
|
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.
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Orphanet:3329
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
172 (76.6%)
|
AREDYLD syndrome
---- 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.
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Orphanet:1133
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
|
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.
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Orphanet:3339
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
|
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.
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Orphanet:2750
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:H00454
Gene Reviews
|
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.
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Orphanet:99797
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
|
176 (76.5%)
|
Mosaic trisomy 1
|
小顎後退
握り手
眼瞼裂斜下
短い上口唇
Orphanet:1692
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
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)
Orphanet:314585
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
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)
Orphanet:1770
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
|
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.
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Orphanet:2980
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
|
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)
Orphanet:1826
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
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)
Orphanet:1597
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
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)
Orphanet:50
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:H01776
Gene Reviews
|
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)
Orphanet:251019
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:H02146
Gene Reviews
|
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)
Orphanet:435638
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
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)
Orphanet:83
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
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)
Orphanet:884
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
|
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)
Orphanet:321
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
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)
Orphanet:2935
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
|
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)
Orphanet:1147
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
|
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)
Orphanet:3459
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:H02267
|
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)
Orphanet:73246
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
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)
Orphanet:870
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:H01552
|
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)
Orphanet:3409
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
|
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)
Orphanet:1777
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
|
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)
Orphanet:1974
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
|
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)
Orphanet:3309
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
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)
Orphanet:1699
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
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)
Orphanet:2908
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:H00588
Gene Reviews
|
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)
Orphanet:1001
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:H00561
|
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)
Orphanet:238750
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
|