1001 (62.4%)
|
Leprosy
---- ハンセン病
|
口唇炎
外反(眼瞼)
尺側鷲手
背部痛
A chronic infectious disease affecting primarily the skin and peripheral nervous system.
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Orphanet:548
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1002 (62.4%)
|
Glossopalatine ankylosis
|
奇肢症
小顎
無舌
Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge.
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Orphanet:141163
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1003 (62.4%)
|
Spondyloenchondrodysplasia
|
小肢症
歯の異常
Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis.
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Orphanet:1855
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1003 (62.4%)
|
Localized scleroderma
---- 限局性強皮症
|
Gingival recession
片側萎縮
Localized scleroderma is the skin localized form of scleroderma (see this term) characterized by fibrosis of the skin causing cutaneous plaques or strips.
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Orphanet:90289
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1003 (62.4%)
|
Poliomyelitis
---- 灰白髄炎
|
片側萎縮
耳下腺炎
顔面非対称
Poliomyelitis is a viral infection caused by any of three serotypes of human poliovirus, which is part of the family of enteroviruses.
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Orphanet:2912
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1006 (62.3%)
|
Mesomelic dysplasia, Kantaputra type
---- 四肢中部短縮性異形成, Kantaputra 型 (MMDK; MDK)
|
四肢中部短縮
第5指弯指
肋骨の異常
常染色体優性遺伝
Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.
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Orphanet:1836
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
|
1007 (62.3%)
|
Omodysplasia
|
四肢近位短縮
骨格異形成
Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.
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Orphanet:2733
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1007 (62.3%)
|
Osteocraniostenosis
---- 細い骨異形成
|
子宮内成長遅滞
小肢症
常染色体優性遺伝
Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.
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Orphanet:2763
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:H02223
|
1007 (62.3%)
|
Spondyloepiphyseal dysplasia, Kimberley type
---- 脊椎骨端異形成 , Kimberley 型
|
小肢症
扁平脊椎
常染色体優性遺伝
Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.
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Orphanet:93283
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:H00765
|
1007 (62.3%)
|
Coxoauricular syndrome
---- 股耳症候群
|
小肢症
難聴
Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.
>> 翻訳 (Google)
Orphanet:1508
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
|
1007 (62.3%)
|
Multiple epiphyseal dysplasia due to collagen 9 anomaly
|
小肢症
歩行障害
Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.
>> 翻訳 (Google)
Orphanet:166002
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1007 (62.3%)
|
Heart defects-limb shortening syndrome
|
四肢中部短縮/四肢近位短縮性四肢短縮
肋骨の異常
常染色体劣性遺伝
A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs) and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990.
>> 翻訳 (Google)
Orphanet:1354
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
|
1007 (62.3%)
|
Becker nevus syndrome
---- Becker 母斑症候群
|
小肢症
陰嚢異常
A rare, syndromic, benign, epidemal nevus syndrome characterized by the association of a Becker nevus (i.e. circumscribed, unilateral, irregularly shaped, hyperpigmented macules, with or without hypertrichosis and/or acneiform lesions, occuring predominantly on the anterior upper trunk or scapular region) with ipsilateral breast hypoplasia or other, typically hypoplastic, skeletal, cutaneous, and/or muscular defects, such as pectoralis major hypoplasia, supernumerary nipples, vertebral defects, scoliosis, limb asymmetry, odontomaxillary hypoplasia and lipoatrophy.
>> 翻訳 (Google)
Orphanet:64755
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
|
1007 (62.3%)
|
Monomelic amyotrophy
|
片側萎縮
筋虚弱
孤発性
Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms.
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Orphanet:65684
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
|
1007 (62.3%)
|
Nevus of Ota
---- 太田母斑
|
片側萎縮
緑内障
Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus.
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Orphanet:263425
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1007 (62.3%)
|
Ollier disease
---- 内軟骨腫症
|
小肢症
視力障害(霧視、かすみ目)
Enchondromatosis is a rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.
>> 翻訳 (Google)
Orphanet:296
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
|
1007 (62.3%)
|
Mixed germ cell tumor
|
尿閉
片側萎縮
Orphanet:180234
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1007 (62.3%)
|
Duchenne muscular dystrophy
---- 筋ジストロフィー, Duchenne 型
|
片側萎縮
遺尿
X連鎖劣性遺伝
Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.
>> 翻訳 (Google)
Orphanet:98896
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:H00562
KEGG:H01963
Gene Reviews
|
1019 (62.3%)
|
Acrocapitofemoral dysplasia
---- 肢端大腿骨頭異形成
|
大頭
小肢症
短い手掌
常染色体劣性遺伝
A rare skeletal dysplasi, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.
>> 翻訳 (Google)
Orphanet:63446
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:H00675
|
1020 (62.2%)
|
Familial scaphocephaly syndrome, McGillivray type
|
下顎突出
合趾症
幅広い母趾趾骨
眼瞼裂斜上
高口蓋
常染色体優性遺伝
Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.
>> 翻訳 (Google)
Orphanet:168624
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
|
1021 (62.2%)
|
Intellectual disability-myopathy-short stature-endocrine defect syndrome
|
口蓋の異常
眼瞼裂斜下
第5指弯指
頭蓋顔面過骨症
常染色体劣性遺伝
Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.
>> 翻訳 (Google)
Orphanet:3068
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
|
1021 (62.2%)
|
Allan-Herndon-Dudley syndrome
|
両側性単一手掌横線
屈指
眼瞼裂斜上
開口
頬骨未発達
X連鎖遺伝
X連鎖劣性遺伝
X連鎖優性遺伝
An X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.
>> 翻訳 (Google)
Orphanet:59
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:H00650
Gene Reviews
|
1021 (62.2%)
|
Classical Ehlers-Danlos syndrome
|
くも指
内眼角贅皮
舌の異常
頬突出
常染色体優性遺伝
Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility.
>> 翻訳 (Google)
Orphanet:287
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:H00802
Gene Reviews
|
1024 (62.2%)
|
Multiple myeloma
---- 多発性骨髄腫
|
Rotator cuff tear
下顎痛
外反(眼瞼)
舌炎
常染色体劣性遺伝
体細胞突然変
Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig).
>> 翻訳 (Google)
Orphanet:29073
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1025 (62.1%)
|
Spondyloepimetaphyseal dysplasia with multiple dislocations
|
小肢症
平坦な頬
細い中手骨
常染色体優性遺伝
Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.
>> 翻訳 (Google)
Orphanet:93360
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
|
1026 (62.1%)
|
47,XYY syndrome
|
Finger clinodactyly
平坦な頬
橈尺骨癒合
47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.
>> 翻訳 (Google)
Orphanet:8
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1027 (62.1%)
|
Deafness-small bowel diverticulosis-neuropathy syndrome
|
咽頭の異常
短い手掌
常染色体劣性遺伝
Deafness-small bowel diverticulosis-neuropathy syndrome is characterised by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis).
>> 翻訳 (Google)
Orphanet:3217
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
|
1027 (62.1%)
|
Marinesco-Sjögren syndrome
|
小頭
短い手掌
常染色体劣性遺伝
Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.
>> 翻訳 (Google)
Orphanet:559
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:H01284
Gene Reviews
|
1027 (62.1%)
|
Proximal renal tubular acidosis
---- 近位尿細管性アシドーシス
|
小さい手
小頭
常染色体優性遺伝
常染色体劣性遺伝
Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.
>> 翻訳 (Google)
Orphanet:47159
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
|
1030 (62.0%)
|
Paraplegia-intellectual disability-hyperkeratosis syndrome
|
円錐骨端
小顎
短指症候群
額傾斜
X連鎖遺伝
X連鎖劣性遺伝
A rare syndrome characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis.
>> 翻訳 (Google)
Orphanet:2824
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
|
1031 (62.0%)
|
3q26 microduplication syndrome
|
分厚い眉毛
大きな頬
小顎
3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.
>> 翻訳 (Google)
Orphanet:96095
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1032 (61.9%)
|
Hydranencephaly
---- 水無脳症
|
合指趾症
小頭
正中口唇裂
A rare cerebral malformation characterized by an almost or complete lack of cortex, specifically the cerebral hemispheres, with the cranium and meninges completely intact. In most cases, death occurs in utero or in the first weeks of life. Developmental delay, drug-resistant seizures, spastic diplegia, severe growth failure, deafness and blindness are typical.
>> 翻訳 (Google)
Orphanet:2177
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1033 (61.9%)
|
Joubert syndrome with renal defect
|
口蓋裂
多指症
脳瘤
高位の弓形眉毛
常染色体劣性遺伝
Heterogeneous
Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.
>> 翻訳 (Google)
Orphanet:220497
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
|
1033 (61.9%)
|
Joubert syndrome with ocular defect
|
口蓋裂
多指症
脳瘤
高位の弓形眉毛
Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy.
>> 翻訳 (Google)
Orphanet:220493
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1033 (61.9%)
|
Joubert syndrome with hepatic defect
|
口腔裂
大頭
軸後性多指症
高位の弓形眉毛
常染色体劣性遺伝
Heterogeneous
Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).
>> 翻訳 (Google)
Orphanet:1454
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:H01001
|
1036 (61.9%)
|
Fuhrmann syndrome
---- 腓骨無形成または低形成-大腿骨湾曲-多指症/合指症/乏指症
|
アザラシ肢
短指症候群
常染色体劣性遺伝
Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.
>> 翻訳 (Google)
Orphanet:2854
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:H00846
|
1037 (61.9%)
|
Hypertrichosis-acromegaloid facial appearance syndrome
|
下口唇唇紅部外反
手の異常
歯肉過成長
眼瞼裂狭小
Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, Cantù type (see these terms).
>> 翻訳 (Google)
Orphanet:966
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1037 (61.9%)
|
Bathing suit ichthyosis
|
口唇外反
外反(眼瞼)
掌蹠過角化症
Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body.
>> 翻訳 (Google)
Orphanet:100976
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1039 (61.8%)
|
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
|
前頭突出, 額突出
小顎
眼窩縫合早期癒合
常染色体優性遺伝
Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis (see this term), Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant.
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Orphanet:1538
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
|
1040 (61.7%)
|
Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
|
短い趾
短指症候群
粗な顔貌
常染色体劣性遺伝
Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome (see this term) by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.
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Orphanet:3085
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
|
1041 (61.7%)
|
8p23.1 duplication syndrome
|
合趾症
長い人中
高位の弓形眉毛
8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).
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Orphanet:251076
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1042 (61.7%)
|
Prolidase deficiency
---- プロリダーゼ欠損症
|
くも指
低い前部毛髪線
外反膝
小顎
齲歯
常染色体劣性遺伝
Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.
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Orphanet:742
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:H01119
Gene Reviews
|
1043 (61.7%)
|
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
|
下顎突出
分厚い下口唇唇紅部
眼瞼裂狭小
常染色体劣性遺伝
A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows.
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Orphanet:2057
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
|
1043 (61.7%)
|
Xq25 microduplication syndrome
|
下顎突出
内眼角贅皮
分厚い唇紅部縁
平坦な頬
Orphanet:521258
画像検索 (Google)
症例報告検索
|
1045 (61.7%)
|
Hypertelorism-microtia-facial clefting syndrome
|
二分した鼻尖
小頭
正中口唇口蓋裂
母指球筋萎縮
常染色体劣性遺伝
Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.
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Orphanet:2213
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
|
1046 (61.6%)
|
Coats disease
---- Coats 病
|
アザラシ肢
網膜血管芽腫
Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.
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Orphanet:190
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
|
1047 (61.6%)
|
Maternal uniparental disomy of chromosome 1
|
大泉門閉鎖遅延
平坦な人中
手掌横線
骨端点状石灰化
Maternal uniparental disomy of chromosome 1 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.
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Orphanet:251009
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1048 (61.6%)
|
DEND syndrome
|
Clinodactyly of the 4th finger
目立つ前頭縫合隆起
長い人中
DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes.
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Orphanet:79134
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1048 (61.6%)
|
Peripheral pulmonary stenosis
|
Clinodactyly of the thumb
卵形の顔
短頭
長い人中
Peripheral pulmonary stenosis is a rare congenital anomaly of the great arteries that may occur at single or multiple sites, in isolation or in association with other congenital heart defects (valvular pulmonary stenosis, atrial, or ventricular septal defects or tetralogy of Fallot) and genetic syndromes (Williams, Alagile syndrome). Clinical presentation is variable and includes heart murmurs, dyspnea, syncope, chest pain and pulmonary hypertension-associated symptoms.
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Orphanet:99084
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1048 (61.6%)
|
ALG13-CDG
|
内転母指
小頭
短い下顎
長い人中
X連鎖劣性遺伝
X連鎖優性遺伝
A form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).
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Orphanet:324422
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
|
1048 (61.6%)
|
Autosomal recessive spondylocostal dysostosis
|
口蓋裂
小頭
屈指
腕長増加
長い人中
A rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.
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Orphanet:2311
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1052 (61.6%)
|
Proteus-like syndrome
|
下顎突出
反張膝
眼瞼裂斜下
開放咬合
Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease.
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Orphanet:2969
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1053 (61.6%)
|
Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
|
下顎突出
内反膝
狭い口
眼瞼裂斜下
常染色体優性遺伝
A developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.
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Orphanet:1110
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
|
1054 (61.5%)
|
Spondylometaphyseal dysplasia, Kozlowski type
---- 脊椎骨幹端異形成
|
外反膝
歯状突起低形成
短指症候群
高い額
常染色体優性遺伝
Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.
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Orphanet:93314
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:H02185
Gene Reviews
|
1055 (61.5%)
|
Pili torti-onychodysplasia syndrome
|
口蓋裂
唇裂
皮膚性合指症
睫毛欠損
A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991.
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Orphanet:2890
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1056 (61.4%)
|
Camptodactyly-joint contractures-facial skeletal defects syndrome
|
小顎
屈指
狭い口
Camptodactyly-joint contractures-facial skeletal defects syndrome is characterised by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).
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Orphanet:1323
画像検索 (Google)
症例報告検索
|
1056 (61.4%)
|
Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
|
小顎
屈指
狭い口
Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterised by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive.
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Orphanet:1495
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1056 (61.4%)
|
Congenital muscular dystrophy, Ullrich type
|
内転母指
口蓋の異常
小顎
Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.
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Orphanet:75840
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1056 (61.4%)
|
Galloway-Mowat syndrome
---- ギャロウェイ・モワト症候群
|
内転母指
小顎
歯の異常
A rare syndrome characterized by the association of nephrotic syndrome and central nervous system anomalies.
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Orphanet:2065
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1056 (61.4%)
|
Growth delay due to insulin-like growth factor type 1 deficiency
|
口の異常
小顎
歯萌出遅延
第5指弯指
常染色体劣性遺伝
Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.
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Orphanet:73272
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:H02040
|
1056 (61.4%)
|
Rhombencephalosynapsis
|
小顎後退
狭い口
短い指骨
Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterised by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres.
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Orphanet:59315
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1062 (61.3%)
|
Goldberg-Shprintzen megacolon syndrome
|
口蓋裂
合指症
小頭
疎な眉毛
常染色体劣性遺伝
A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum).
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Orphanet:66629
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:H00936
|
1063 (61.2%)
|
Macrocephaly-spastic paraplegia-dysmorphism syndrome
|
下顎突出
分厚い眉毛
大頭
薄い上口唇唇紅部
常染色体劣性遺伝
Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.
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Orphanet:2429
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
|
1064 (61.2%)
|
Fibrodysplasia ossificans progressiva
---- 進行性骨化性線維異形成 (FOP)
|
母趾趾骨無形成/低形成
短指症候群
開口障害 (牙関緊急)
常染色体優性遺伝
Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.
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Orphanet:337
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:H00430
|
1065 (61.1%)
|
Vascular Ehlers-Danlos syndrome
---- Ehlers-Danlos 症候群, 血管型
|
先天性股関節脱臼
内眼角贅皮
漏斗胸
薄い唇紅部縁
Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.
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Orphanet:286
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1066 (61.1%)
|
Christianson syndrome
|
下顎突出
内転母指
分厚い眉毛
狭い顔
X連鎖優性遺伝
Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.
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Orphanet:85278
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:H01914
Gene Reviews
|
1067 (61.1%)
|
Neutral lipid storage disease with ichthyosis
|
口唇外反
外反(眼瞼)
肩帯筋虚弱
常染色体劣性遺伝
Orphanet:98907
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:H00736
|
1068 (61.1%)
|
McKusick-Kaufman syndrome
---- 水子宮膣症候群
|
中手骨の異常
口蓋裂
短指症候群
常染色体劣性遺伝
McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.
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Orphanet:2473
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:H02180
Gene Reviews
|
1069 (61.0%)
|
Fibular dimelia-diplopodia syndrome
|
脛骨欠損
顔の異常
Fibular dimelia-diplopodia syndrome is a rare developmental anomaly.
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Orphanet:1757
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1069 (61.0%)
|
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
|
幅広い鼻梁
第3趾骨無形成
常染色体優性遺伝
常染色体劣性遺伝
This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).
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Orphanet:2229
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
|
1071 (60.9%)
|
Isolated brachycephaly
|
中手骨癒合
幅広い額
短指症候群
短頭
Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.
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Orphanet:35099
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1072 (60.9%)
|
Pseudodiastrophic dysplasia
---- 偽変形性異形成
|
四肢近位短縮
平坦な頬
指趾骨脱臼
常染色体劣性遺伝
Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia (see this term) on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.
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Orphanet:85174
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
|
1072 (60.9%)
|
IMAGe syndrome
---- 胎内発育遅滞-精神遅滞-骨幹端異形成-副腎低形成-性器奇形
|
くも指
前頭突出, 額突出
小肢症
常染色体優性遺伝
常染色体劣性遺伝
IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.
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Orphanet:85173
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
|
1072 (60.9%)
|
DYRK1A-related intellectual disability syndrome
|
くも指
狭い額
肢端四肢中部短縮
常染色体優性遺伝
Orphanet:464306
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
|
1072 (60.9%)
|
Nephroblastoma
---- ウィルムス腫瘍1
|
片側萎縮
粗な顔貌
長い指
A rare malignant renal tumor, typically affecting the pediatric population, characterized by an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.
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Orphanet:654
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
1076 (60.9%)
|
Spondyloepimetaphyseal dysplasia, matrilin-3 type
|
四肢成長不全
平坦な顔
常染色体劣性遺伝
Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.
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Orphanet:156728
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:H00767
|
1076 (60.9%)
|
Thoracic dysplasia-hydrocephalus syndrome
---- 胸郭異形成-水頭症症候群
|
四肢成長不全
落ちくぼんだ鼻梁
常染色体劣性遺伝
Thoracic dysplasia-hydrocephalus syndrome is an extremely rare primary bone dysplasia syndrome characterized by short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus, and developmental delay. There have been no further descriptions in the literature since 1987.
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Orphanet:1861
日本語症例報告(J-STAGE & J-GLOBAL)
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症例報告検索
Monarch
UR-DBMS
|
1076 (60.9%)
|
Hemiparkinsonism-hemiatrophy syndrome
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片側萎縮
片側顔面萎縮
Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral, hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantar responses are frequently associated.
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Orphanet:306669
日本語症例報告(J-STAGE & J-GLOBAL)
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Monarch
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1076 (60.9%)
|
Recessive X-linked ichthyosis
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四肢中部短縮
無嗅覚
X連鎖劣性遺伝
X連鎖優性遺伝
Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.
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Orphanet:461
日本語症例報告(J-STAGE & J-GLOBAL)
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Monarch
UR-DBMS
KEGG:H00134
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1076 (60.9%)
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Mucopolysaccharidosis type 3
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片側萎縮
頭蓋顔面過骨症
Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration.
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Orphanet:581
日本語症例報告(J-STAGE & J-GLOBAL)
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症例報告検索
Monarch
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1076 (60.9%)
|
Superficial siderosis
---- 脳表ヘモジデリン沈着症
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無嗅覚
片側萎縮
Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria.
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Orphanet:247245
日本語症例報告(J-STAGE & J-GLOBAL)
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症例報告検索
Monarch
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1076 (60.9%)
|
Hemimegalencephaly
---- 片側巨脳症
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片側萎縮
顔面非対称
Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis (see these terms). Management includes seizure control by antiepileptic medications and early hemispherectomy.
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Orphanet:99802
日本語症例報告(J-STAGE & J-GLOBAL)
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Monarch
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1076 (60.9%)
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Glioblastoma
---- 神経膠芽腫
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片側萎縮
顔面麻痺
Glioblastomas are malignant astrocytic tumors (grade IV according to the WHO classification).
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Orphanet:360
日本語症例報告(J-STAGE & J-GLOBAL)
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Monarch
|
1084 (60.9%)
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Orofaciodigital syndrome type 3
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歯の異常
短い胸骨
軸後性多指症
常染色体劣性遺伝
Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.
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Orphanet:2752
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
|
1085 (60.8%)
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Bloom syndrome
---- Bloom 症候群
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副鼻腔炎
多指症
歯数の減少 number of teeth
結膜毛細血管拡張
常染色体劣性遺伝
Bloom syndrome is a rare disorder associated with pre- and postnatal growth deficiency, a telangiectatic erythematous rash of the face and other sun-exposed areas, insulin resistance and predisposition to early onset and recurrent cancer of multiple organ systems.
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Orphanet:125
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:H00296
KEGG:H01346
Gene Reviews
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1086 (60.8%)
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Paternal uniparental disomy of chromosome 5
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四肢近位短縮性腕短縮
後部斜頭
短い下肢
Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.
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Orphanet:96190
日本語症例報告(J-STAGE & J-GLOBAL)
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症例報告検索
Monarch
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1087 (60.7%)
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Cowden syndrome
---- カウデン症候群
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大頭
巨舌
掌蹠過角化症
短指症候群
結膜過誤腫
Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.
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Orphanet:201
日本語症例報告(J-STAGE & J-GLOBAL)
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症例報告検索
Monarch
|
1088 (60.7%)
|
Grant syndrome
---- Grant 症候群
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口蓋の異常
小顎
長管骨湾曲
常染色体優性遺伝
Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.
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Orphanet:2097
日本語症例報告(J-STAGE & J-GLOBAL)
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症例報告検索
Monarch
UR-DBMS
|
1088 (60.7%)
|
Typical nemaline myopathy
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外反膝
小顎
高口蓋
Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement.
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Orphanet:171436
日本語症例報告(J-STAGE & J-GLOBAL)
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症例報告検索
Monarch
|
1088 (60.7%)
|
Menkes disease
---- Menkes 病
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口蓋の異常
小顎
骨幹端の異常
X連鎖劣性遺伝
Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.
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Orphanet:565
日本語症例報告(J-STAGE & J-GLOBAL)
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症例報告検索
Monarch
UR-DBMS
KEGG:H00209
Gene Reviews
|
1091 (60.6%)
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Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
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両側性単一手掌横線
小顎
歯数の減少 number of teeth
常染色体優性遺伝
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.
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Orphanet:1964
日本語症例報告(J-STAGE & J-GLOBAL)
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症例報告検索
Monarch
UR-DBMS
|
1092 (60.6%)
|
Laurence-Moon syndrome
---- Laurence- Moon 症候群
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内眼角贅皮
多指症
短指症候群
短頭
常染色体劣性遺伝
A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.
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Orphanet:2377
日本語症例報告(J-STAGE & J-GLOBAL)
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症例報告検索
Monarch
UR-DBMS
KEGG:H01898
KEGG:H02137
Gene Reviews
|
1092 (60.6%)
|
Peters anomaly
---- Peters 奇形
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両側性屈指
内眼角贅皮
小頭
短指症候群
Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.
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Orphanet:708
日本語症例報告(J-STAGE & J-GLOBAL)
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症例報告検索
Monarch
UR-DBMS
|
1094 (60.6%)
|
MEHMO syndrome
---- MEHMO 症候群
|
先細りの指
分厚い唇紅部縁
大きな頬
小頭
X連鎖劣性遺伝
ミトコンドリア遺伝
MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.
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Orphanet:85282
日本語症例報告(J-STAGE & J-GLOBAL)
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症例報告検索
Monarch
UR-DBMS
KEGG:H02195
|
1094 (60.6%)
|
Maternal uniparental disomy of chromosome X
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外反肘
小頭
屈指
薄い唇紅部縁
A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.
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Orphanet:261519
日本語症例報告(J-STAGE & J-GLOBAL)
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Monarch
|
1096 (60.5%)
|
Camptodactyly syndrome, Guadalajara type 2
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小頭
短い第2趾
常染色体劣性遺伝
Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.
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Orphanet:1326
日本語症例報告(J-STAGE & J-GLOBAL)
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症例報告検索
Monarch
UR-DBMS
|
1096 (60.5%)
|
Symphalangism with multiple anomalies of hands and feet
---- 指趾骨癒合-手足多発奇形
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大頭
短い母趾末節骨
短指症候群
常染色体優性遺伝
Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981.
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Orphanet:3246
日本語症例報告(J-STAGE & J-GLOBAL)
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Monarch
UR-DBMS
|
1098 (60.4%)
|
Apodia
---- 無足症
|
小顎
舌癒着
Orphanet:294986
日本語症例報告(J-STAGE & J-GLOBAL)
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症例報告検索
Monarch
|
1098 (60.4%)
|
Ectrodactyly-spina bifida-cardiopathy syndrome
|
口蓋の異常
小顎
Orphanet:1894
画像検索 (Google)
症例報告検索
|
1098 (60.4%)
|
Periodontal Ehlers-Danlos syndrome
---- Ehlers-Danlos 症候群, 歯周病型, 1
|
小顎
重度の歯周炎
Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.
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Orphanet:75392
日本語症例報告(J-STAGE & J-GLOBAL)
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症例報告検索
Monarch
|