901 (64.1%)
|
Microform holoprosencephaly
|
口蓋裂
小頭
橈骨頭低形成
短い人中
肘脱臼
Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage.
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Orphanet:280200
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
902 (64.0%)
|
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
|
Finger clinodactyly
下顎後退
内眼角贅皮
異常な切歯数
X連鎖劣性遺伝
An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features.
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Orphanet:2958
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
|
902 (64.0%)
|
Intellectual disability, Buenos-Aires type
|
下顎突出
眼瞼裂斜下
第5指弯指
高口蓋
常染色体劣性遺伝
Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.
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Orphanet:3079
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
|
904 (64.0%)
|
Craniofacial-deafness-hand syndrome
---- 頭蓋顔面-難聴-手症候群 (CDHS)
|
上顎低形成
手関節の異常
指の尺側偏位
狭い口
眼瞼裂斜下
常染色体優性遺伝
Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.
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Orphanet:1529
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:H00446
|
904 (64.0%)
|
Dislocation of the hip-dysmorphism syndrome
|
内眼角贅皮
前上顎突出
指偏位
狭い口
常染色体優性遺伝
Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995.
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Orphanet:2412
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
|
906 (63.9%)
|
Nijmegen breakage syndrome
---- Nijmegen 染色体断裂症候群
|
下顎後退
小頭
眼瞼の異常
非正中口唇裂
常染色体劣性遺伝
Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.
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Orphanet:647
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:H01344
Gene Reviews
|
907 (63.9%)
|
Microcephaly-seizures-intellectual disability-heart disease syndrome
|
内眼角贅皮
短い肋骨
軸後性多指症
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989.
>> 翻訳 (Google)
Orphanet:2519
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
908 (63.9%)
|
Emery-Nelson syndrome
---- 手足変形-扁平な顔貌
|
中手骨指骨(MP)関節拘縮
短指症候群
長い人中
高口蓋
常染色体優性遺伝
Emery-Nelson syndrome is a rare congenital limb malformation syndrome characterized by facial dysmorphism (high forehead, depressed nasal bridge, long philtrum, flat malar region, high arched palate), short stature and deformities of the hands and feet (small hands/feet, flexion contractures of the first three metacarpophalangeal joints, extension contractures of the thumbs at the interphalangeal joints, clawed toes, mild pes cavus). Additional features include neonatal hypotonia, thin and shiny skin of the hands/feet, ridged nails, dry and coarse hair, mild weakness of the orbicularis oculi muscles and occasional ventricular extrasystoles. Intellectual disability may be present. There have been no further descriptions in the literature since 1970.
>> 翻訳 (Google)
Orphanet:1927
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
|
909 (63.9%)
|
Absence deformity of leg-cataract syndrome
|
下肢発育不全
視力障害
常染色体劣性遺伝
A very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.
>> 翻訳 (Google)
Orphanet:2310
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
|
909 (63.9%)
|
Spondyloepimetaphyseal dysplasia, Missouri type
---- 脊椎骨端骨幹端異形成, ミズーリ型
|
短い下肢
骨幹端の異常
常染色体優性遺伝
Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.
>> 翻訳 (Google)
Orphanet:93356
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
|
911 (63.8%)
|
Mandibuloacral dysplasia
|
小顎
手の末節骨のの骨融解病変
高口蓋
Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.
>> 翻訳 (Google)
Orphanet:2457
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
911 (63.8%)
|
Autosomal semi-dominant severe lipodystrophic laminopathy
|
小顎
指骨の骨融解病変
歯萌出促進
顔面脂肪組織増加
Orphanet:280365
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
913 (63.8%)
|
Congenital radioulnar synostosis
---- 先天性橈尺骨癒合症
|
前方橈骨頭脱臼
小顎
舌根沈下
常染色体優性遺伝
Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.
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Orphanet:3269
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
|
914 (63.8%)
|
Craniolenticulosutural dysplasia
---- 頭蓋水晶体縫合異形成 (CLSD)
|
上顎低形成
幅広い口
平坦な人中
高い腸骨翼
常染色体劣性遺伝
Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.
>> 翻訳 (Google)
Orphanet:50814
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:H01105
|
915 (63.8%)
|
Brachydactyly-elbow wrist dysplasia syndrome
|
大頭
尺骨の異常
橈骨無形成/低形成
常染色体優性遺伝
Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.
>> 翻訳 (Google)
Orphanet:1275
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
|
916 (63.7%)
|
Patent urachus
---- 尿膜管開存症
|
内眼角外方偏位
小顎
脛骨湾曲
Patent urachus is a type of congenital urachal anomaly (see this term) characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus.
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Orphanet:431341
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
916 (63.7%)
|
Arthrochalasia Ehlers-Danlos syndrome
|
内眼角贅皮
大腿骨骨頭骨端の無血管性壊死
小顎
常染色体優性遺伝
Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.
>> 翻訳 (Google)
Orphanet:1899
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:H02243
|
916 (63.7%)
|
Dermatosparaxis Ehlers-Danlos syndrome
|
内眼角贅皮
大腿骨骨頭骨端の無血管性壊死
小顎
常染色体劣性遺伝
Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. The dermatosparaxis type (formerly called EDS type VIIC) is marked by extremely fragile tissues, hyperextensible skin and easy bruising. Facial skin contains numerous folds, as in the cutis laxa syndrome. Umbilical or inguinal hernias have also been described. Dermatosparaxis is extremely rare and few cases only have been reported. The disease is transmitted as an autosomal recessive trait. It is due to N-terminal procollagen I peptidase deficiency causing abnormal maturation of the alpha1 (I) and alpha2 (I) collagen I pro-chains, in which the aminoterminal propeptide is incorrectly cleaved. The causative gene, ADAMTS2, has been localised to 5q23. The homozygous mutation Q225X was present in 80% of cases subjected to molecular analysis. There is no specific treatment available for this disease, but symptomatic management should be offered in a specialised centre.
>> 翻訳 (Google)
Orphanet:1901
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:H02244
|
919 (63.7%)
|
Hypochondroplasia
---- 軟骨低形成症
|
大頭
短い趾
短い長管骨
短指症候群
常染色体優性遺伝
Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.
>> 翻訳 (Google)
Orphanet:429
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:H02068
Gene Reviews
|
920 (63.7%)
|
Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
|
下顎突出
短指症候群
高口蓋
常染色体優性遺伝
This syndrome is characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present.
>> 翻訳 (Google)
Orphanet:2180
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
|
920 (63.7%)
|
Rabson-Mendenhall syndrome
---- 松果体過形成-インスリン抵抗性糖尿病-身体異常
|
下顎突出
歯の異常
短指症候群
常染色体劣性遺伝
A rare syndrome that belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes).
>> 翻訳 (Google)
Orphanet:769
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:H00942
Gene Reviews
|
922 (63.7%)
|
Ascher syndrome
---- 眼瞼弛緩症-二重上口唇
|
上口唇の異常
指偏位
眼瞼の異常
常染色体優性遺伝
A very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported.
>> 翻訳 (Google)
Orphanet:1253
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
|
922 (63.7%)
|
Brain malformation-congenital heart disease-postaxial polydactyly syndrome
|
下口唇唇紅部外反
眼瞼裂斜上
軸後性多指症
長い人中
Goossens-Devriendt syndrome is characterised by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay.
>> 翻訳 (Google)
Orphanet:75389
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
924 (63.7%)
|
Pterygium colli-intellectual disability-digital anomalies syndrome
|
幅広い指末節骨
指間(IP)関節の拡大
短頭
逆内眼角贅皮
常染色体優性遺伝
X連鎖優性遺伝
A rare disorder characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.
>> 翻訳 (Google)
Orphanet:2988
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
|
924 (63.7%)
|
Greig cephalopolysyndactyly syndrome
---- Greig 頭蓋多合指症候群 (GCPS)
|
三角頭蓋
内眼角外方偏位
幅広い母指
軸後性多指症
高い額
常染色体優性遺伝
Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.
>> 翻訳 (Google)
Orphanet:380
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:H02161
Gene Reviews
|
926 (63.6%)
|
Intellectual disability-short stature-hypertelorism syndrome
|
幅広い額
第5指弯指
長い人中
頬骨未発達
Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability characterized by short stature, mild to moderate intellectual disability, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia, typically present until infancy. There have been no further descriptions in the literature since 1991.
>> 翻訳 (Google)
Orphanet:3074
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
927 (63.5%)
|
Paternal uniparental disomy of chromosome X
|
後部毛髪線低位
短い中手骨
A uniparental disomy of paternal 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 father is a carrier and specific phenotype depends on the inherited disorder.
>> 翻訳 (Google)
Orphanet:261524
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
927 (63.5%)
|
Spondylometaphyseal dysplasia, Sedaghatian type
---- 骨幹端軟骨異形成, Sedaghatian 型
|
塔状頭
短い中手骨
短い手掌
常染色体劣性遺伝
Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.
>> 翻訳 (Google)
Orphanet:93317
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:H01825
|
927 (63.5%)
|
Senior-Loken syndrome
---- Senior-Loken 症候群1 (SLSN1)
|
Dandy-Walker 奇形
短い中手骨
Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.
>> 翻訳 (Google)
Orphanet:3156
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
927 (63.5%)
|
Linear verrucous nevus syndrome
|
大頭
短い中手骨
Orphanet:2611
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
931 (63.5%)
|
FGFR2-related bent bone dysplasia
|
下肢湾曲
小顎
歯肉過成長
短指症候群
常染色体優性遺伝
FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophtalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis, and bent long bones (particularly involving the femora), caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated.
>> 翻訳 (Google)
Orphanet:313855
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
|
932 (63.5%)
|
Metaphyseal chondrodysplasia, Spahr type
---- 骨幹端異形成, Spahr 型
|
歯の異常
短い下肢
常染色体劣性遺伝
A rare, genetic, primary bone dysplasia disease characterized by usually moderate, postnatal short stature, progressive genu vara deformity, a waddling gait, and radiological signs of metaphyseal dysplasia (i.e. irregular, sclerotic and widened metaphyses), in the absence of biochemical abnormalities suggestive of rickets disease. Intermittent knee pain, lordosis, and delayed motor development may also occasionally be associated.
>> 翻訳 (Google)
Orphanet:2501
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
|
933 (63.5%)
|
Leri pleonosteosis
|
側弯
幅広い母指
眼瞼裂狭小
短指症候群
常染色体優性遺伝
Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.
>> 翻訳 (Google)
Orphanet:2900
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
|
934 (63.5%)
|
Tetra-amelia
|
小顎
涙管低形成
高狭口蓋
A rare, non-syndromic, limb reduction defect characterized by the partial or complete absence of all four limbs. Sometimes, other malformations may be associated.
>> 翻訳 (Google)
Orphanet:294971
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
934 (63.5%)
|
Ring chromosome 9 syndrome
|
小顎
幅広い眉毛
舌挺出
Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.
>> 翻訳 (Google)
Orphanet:96173
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
934 (63.5%)
|
Axial mesodermal dysplasia spectrum
|
小顎
歯肉過成長
眼球上デルモイド
Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula.
>> 翻訳 (Google)
Orphanet:1834
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
934 (63.5%)
|
Neuroblastoma
---- 神経芽細胞腫
|
小歯
小顎
連続眉毛
Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.
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Orphanet:635
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
938 (63.5%)
|
Agnathia-holoprosencephaly-situs inversus syndrome
|
下顎無形成
狭い口
眉毛の無形成/低形成
常染色体優性遺伝
常染色体劣性遺伝
An extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.
>> 翻訳 (Google)
Orphanet:990
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:H02118
|
939 (63.5%)
|
Non-distal monosomy 10q
|
両頭頂径狭小
内眼角贅皮
指の重なり
第5指弯指
Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.
>> 翻訳 (Google)
Orphanet:1581
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
940 (63.5%)
|
5q14.3 microdeletion syndrome
|
合趾症
眼瞼裂斜上
短い人中
開口
The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.
>> 翻訳 (Google)
Orphanet:228384
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
941 (63.5%)
|
Syndactyly type 3
|
短い趾
常染色体優性遺伝
Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.
>> 翻訳 (Google)
Orphanet:93404
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
|
942 (63.5%)
|
Cockayne syndrome
---- コケイン症候群
|
口腔裂
口蓋の異常
大きな手
小頭
Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.
>> 翻訳 (Google)
Orphanet:191
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
943 (63.5%)
|
Desmoid tumor
---- 類腱腫
|
尺骨湾曲
開口障害 (牙関緊急)
常染色体優性遺伝
A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.
>> 翻訳 (Google)
Orphanet:873
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
|
944 (63.4%)
|
20q11.2 microdeletion syndrome
|
内転母指
前頭突出, 額突出
短い人中
短指症候群
A rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.
>> 翻訳 (Google)
Orphanet:444051
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
945 (63.4%)
|
Hypogonadism-mitral valve prolapse-intellectual disability syndrome
|
中手骨の異常
尺骨の異常
眼瞼裂斜下
短い頸部
高口蓋
This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature.
>> 翻訳 (Google)
Orphanet:2233
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
946 (63.4%)
|
Achalasia-microcephaly syndrome
---- アカラジア-小頭症候群
|
内眼角贅皮
小顎
常染色体劣性遺伝
An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case.
>> 翻訳 (Google)
Orphanet:929
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
|
946 (63.4%)
|
Craniodigital-intellectual disability syndrome
|
小顎
狭い鼻梁
長い睫毛
Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.
>> 翻訳 (Google)
Orphanet:1514
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
946 (63.4%)
|
Cystic fibrosis-gastritis-megaloblastic anemia syndrome
|
内眼角外方偏位
小顎
幅広い鼻梁
常染色体劣性遺伝
Cystic fibrosis-gastritis-megaloblastic anemia, or Lubani-Al Saleh-Teebi syndrome, is a rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.
>> 翻訳 (Google)
Orphanet:2575
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
|
946 (63.4%)
|
Submucosal cleft palate
---- 粘膜下口蓋裂
|
小顎
長い眼瞼裂
顔面非対称
Orphanet:155878
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
946 (63.4%)
|
Neonatal hemochromatosis
|
小顎
目立つ鼻
眼瞼裂狭小
常染色体劣性遺伝
Neonatal hemochromatosis (NH) is an iron storage disorder present at birth. It is a distinct entity that differs from adult hemochromatosis with respect to its molecular origin.
>> 翻訳 (Google)
Orphanet:446
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
|
946 (63.4%)
|
Nasolacrimal duct cyst
|
小顎
霰粒腫
鼻涙管閉塞
Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females.
>> 翻訳 (Google)
Orphanet:141083
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
946 (63.4%)
|
Cat-eye syndrome
---- ネコ眼症候群
|
小顎
眼瞼裂斜下
耳介前皮膚肉柱
常染色体優性遺伝
Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.
>> 翻訳 (Google)
Orphanet:195
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
|
946 (63.4%)
|
Ocular anomalies-axonal neuropathy-developmental delay syndrome
|
小顎
眼瞼裂斜上
長い顔
Orphanet:496790
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
954 (63.4%)
|
Isolated Pierre Robin syndrome
|
口蓋裂
小顎
舌根沈下
常染色体劣性遺伝
Pierre-Robin syndrome (or Pierre-Robin sequence) is characterised by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft.
>> 翻訳 (Google)
Orphanet:718
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
|
954 (63.4%)
|
Isotretinoin syndrome
|
口蓋裂
小顎
Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy.
>> 翻訳 (Google)
Orphanet:2305
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
954 (63.4%)
|
Amish lethal microcephaly
---- 小頭症, Amish 型
|
小顎
軟口蓋裂
常染色体劣性遺伝
A very rare syndrome characterized by extreme microcephaly and early death, within the first year.
>> 翻訳 (Google)
Orphanet:99742
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:H00990
Gene Reviews
|
954 (63.4%)
|
Auriculocondylar syndrome
|
口蓋裂
小顎
狭い口
A rare disorder that presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.
>> 翻訳 (Google)
Orphanet:137888
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
958 (63.4%)
|
Larsen-like osseous dysplasia-short stature syndrome
|
中手骨の異常
側弯
狭い口
短指症候群
薄い唇紅部縁
孤発性
Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.
>> 翻訳 (Google)
Orphanet:2370
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
|
959 (63.3%)
|
Pili torti
|
側弯
合指趾症
片側性口唇裂
眉毛の異常
常染色体優性遺伝
常染色体劣性遺伝
孤発性
Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms).
>> 翻訳 (Google)
Orphanet:2889
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
|
960 (63.3%)
|
Microphthalmia, Lenz type
|
口腔裂
小頭
眼瞼癒着
第5指弯指
Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms).
>> 翻訳 (Google)
Orphanet:568
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
961 (63.3%)
|
Ring chromosome 15 syndrome
|
三角形の顔
小さい手
Ring chromosome 15 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, characterized by pre- and/or postnatal growth retardation, variable intellectual disability, short stature, dysmorphic features (microcephaly, triangular facies, frontal bossing, hypertelorism, ear anomaly, broad nasal bridge, highly arched palate, micrognathism), hand and feet anomalies (e.g. brachydactyly, clinodactyly, syndactyly), and multiple hyperpigmented and/or hypopigmented spots. Severe phenotypes present with cardiac abnormalities and/or renal malformations. Other reported features include hypotonia, speech delay, talipes equinovarus, and genital anomalies (cryptorchidism and hypospadias).
>> 翻訳 (Google)
Orphanet:96177
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
961 (63.3%)
|
X-linked intellectual disability, Cilliers type
|
小さい手
目立つ眼窩上縁
X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears).
>> 翻訳 (Google)
Orphanet:163971
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
963 (63.3%)
|
Paternal uniparental disomy of chromosome 6
|
小顎
巨舌
浅い眼窩
Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.
>> 翻訳 (Google)
Orphanet:96191
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
964 (63.2%)
|
Lelis syndrome
---- Lelis 症候群
|
下顎突出
掌蹠過角化症
溝舌
眼瞼裂斜上
Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.
>> 翻訳 (Google)
Orphanet:140936
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
|
964 (63.2%)
|
Graft versus host disease
---- 移植片対宿主拒絶反応
|
Cicatricial ectropion
Dupuytren 拘縮
口腔潰瘍
肘運動制限
開口障害 (牙関緊急)
A rare disease that occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen.
>> 翻訳 (Google)
Orphanet:39812
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
966 (63.2%)
|
Constriction rings syndrome
|
Pierre-Robin シークェンス
唇裂
小頭
橈骨偽関節
裂手
孤発性
Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.
>> 翻訳 (Google)
Orphanet:295000
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
|
967 (63.2%)
|
Satoyoshi syndrome
---- 里吉症候群
|
上腕骨の異常
先細りの指
小頭
歯肉炎
疎な/欠損した睫毛
孤発性
Satoyoshi syndrome is a rare, multisystemic autoimmune disease mainly characterized by intermittent painful muscle spasms, alopecia (totalis or universalis in most cases) and long-lasting diarrhea that could lead to malnutrition, growth retardation, and amenorrhea. Secondary bone deformities and various endocrine anomalies may also be associated. Antinuclear antibodies are reported in many cases.
>> 翻訳 (Google)
Orphanet:3130
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
|
968 (63.1%)
|
Stüve-Wiedemann syndrome
|
小肢症
屈指
歯の異常
開口障害 (牙関緊急)
常染色体劣性遺伝
Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.
>> 翻訳 (Google)
Orphanet:3206
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:H00462
|
969 (63.1%)
|
Trigeminal neuralgia
---- 三叉神経痛
|
片側萎縮
舌運動障害
開口障害 (牙関緊急)
常染色体優性遺伝
Orphanet:221091
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
|
969 (63.1%)
|
Meningioma
---- 髄膜腫
|
減歯症
片側萎縮
開口障害 (牙関緊急)
顔面筋波動症 (ミオキミア)
A rare, mostly benign, primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding.
>> 翻訳 (Google)
Orphanet:2495
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
971 (63.0%)
|
Mosaic trisomy 20
|
Dandy-Walker 奇形
短い大腿骨
Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported.
>> 翻訳 (Google)
Orphanet:1724
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
972 (63.0%)
|
14q12 microdeletion syndrome
|
下顎突出
内眼角贅皮
小頭
平坦な人中
14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.
>> 翻訳 (Google)
Orphanet:261144
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
973 (63.0%)
|
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
|
分厚い下口唇唇紅部
四肢筋緊張亢進
小頭
長い睫毛
常染色体劣性遺伝
Orphanet:466688
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
|
973 (63.0%)
|
1q41q42 microdeletion syndrome
|
内反尖足
分厚い唇紅部縁
前頭突出, 額突出
眼瞼裂斜上
常染色体優性遺伝
孤発性
1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.
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Orphanet:250999
日本語症例報告(J-STAGE & J-GLOBAL)
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症例報告検索
Monarch
UR-DBMS
|
975 (62.9%)
|
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
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中手骨の異常
女性外性器異常
趾骨低形成/無形成
常染色体劣性遺伝
An extremely rare congenital limb malformation syndrome, described in only 3 patients to date,characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.
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Orphanet:1112
日本語症例報告(J-STAGE & J-GLOBAL)
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症例報告検索
Monarch
UR-DBMS
|
976 (62.9%)
|
Diaphanospondylodysostosis
---- 透明脊椎異骨症
|
口蓋裂
短い肋骨
常染色体劣性遺伝
Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.
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Orphanet:66637
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:H01844
|
976 (62.9%)
|
Caudal regression sequence
|
口腔裂
肋骨欠損
Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine.
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Orphanet:3027
日本語症例報告(J-STAGE & J-GLOBAL)
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症例報告検索
Monarch
|
978 (62.9%)
|
Distal monosomy 13q
|
小頭
母指無形成/低形成
Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.
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Orphanet:1590
日本語症例報告(J-STAGE & J-GLOBAL)
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症例報告検索
Monarch
UR-DBMS
|
979 (62.9%)
|
Microcephalic primordial dwarfism, Toriello type
---- 小頭性原発性小人症, Toriello 型
|
口角下垂
小頭
眼瞼裂斜下
短指症候群
骨端の異常
常染色体劣性遺伝
A rare disorder characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.
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Orphanet:2643
日本語症例報告(J-STAGE & J-GLOBAL)
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症例報告検索
Monarch
UR-DBMS
|
980 (62.8%)
|
Dermatomyositis
---- 皮膚筋炎
|
ばち状化
口唇炎
眼瞼の異常
胸痛
A type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness.
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Orphanet:221
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
981 (62.8%)
|
Diencephalic syndrome
---- 間脳症候群
|
下口唇唇紅部外反
大きな手
Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesia and euphoria, in the presence of hypothalamic tumors.
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Orphanet:1672
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
982 (62.7%)
|
Acromesomelic dysplasia, Maroteaux type
---- 四肢先端中部異形成, Maroteaux 型
|
前頭突出, 額突出
短指症候群
肢端四肢中部短縮
常染色体劣性遺伝
A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type .
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Orphanet:40
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:H00470
|
983 (62.7%)
|
Familial infantile gigantism
|
下顎突出
大きな手
粗な顔貌
Familial infantile gigantism is a rare, genetic, endocrine disease characterized by early-onset (before the age of five years old) excessive acceleration of linear growth and body size (height Z-score >4.5 SD) due to pituitary mixed growth hormone- and prolactin-secreting adenomas and/or mixed-cell pituitary hyperplasia. Patients present gigantism and may associate acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, appetite increase and acanthosis nigricans.
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Orphanet:300373
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
983 (62.7%)
|
Pituitary gigantism
---- 下垂体性巨人症
|
下顎突出
大きな手
粗な顔貌
A rare endocrine disease characterized by unusually tall stature (with rapid growth velocity), occurring before closure of the epiphyseal growth plates, due to excessive growth hormone (GH) caused by a GH-secreting pituitary tumor or from pituitary hyperplasia. Additional associated features may include pubertal delay, visual defects, headache, excessive appetite, hyperhidrosis and menstrual irregularity, as well as variable manifestations characteristic of acromegaly, such as prognathism, coarse facial features and large hands/feet in adolescents.
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Orphanet:99725
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
985 (62.6%)
|
Mucopolysaccharidosis type 2
|
下顎突出
分厚い下口唇唇紅部
寛骨の異常
巨舌
X連鎖劣性遺伝
A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement.
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Orphanet:580
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:H00129
Gene Reviews
|
986 (62.6%)
|
Bone dysplasia, lethal Holmgren type
|
小肢症
母指の異常
短い肋骨
高い額
常染色体劣性遺伝
Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988.
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Orphanet:1842
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
|
987 (62.6%)
|
Blepharophimosis-intellectual disability syndrome, Ohdo type
|
口蓋裂
小頭
手掌皮膚紋理異常
眼瞼裂狭小
常染色体優性遺伝
Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.
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Orphanet:2728
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
|
988 (62.5%)
|
Thoracomelic dysplasia
---- 胸郭四肢異形成
|
丸い顔
四肢成長不全
短い肋骨
常染色体劣性遺伝
Thoracomelic dysplasia is an extremely rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. No acetabular spurs nor phalangeal cone-shaped epiphyses are present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988.
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Orphanet:1803
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
|
988 (62.5%)
|
Dyggve-Melchior-Clausen disease
---- Dyggve-Melchior-Clausen 病
|
小肢症
歯状突起低形成
粗な顔貌
常染色体劣性遺伝
Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias (see this term).
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Orphanet:239
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:H00757
|
990 (62.5%)
|
Aneurysm-osteoarthritis syndrome
|
くも指
下顎後退
口蓋裂
常染色体優性遺伝
A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (incl. long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and, a raphe, broad or bifid uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additonal cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation.
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Orphanet:284984
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
|
991 (62.5%)
|
Amelogenesis imperfecta
---- 遺伝性エナメル質形成不全症
|
歯肉線維腫症
短い大腿骨頸部
A rare genetic odontal or periodontal disorder that represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.
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Orphanet:88661
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
991 (62.5%)
|
Legg-Calvé-Perthes disease
|
Proximal femoral focal deficiency
歯の異常
常染色体優性遺伝
多因子性遺伝
A rare disorder characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children.
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Orphanet:2380
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:H01526
|
993 (62.5%)
|
Coxopodopatellar syndrome
|
股関節異形成
膝蓋骨低形成
常染色体優性遺伝
Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.
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Orphanet:1509
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:H00461
|
993 (62.5%)
|
Femoral agenesis/hypoplasia
|
Proximal femoral focal deficiency
関節脱臼
Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.
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Orphanet:1987
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
993 (62.5%)
|
Aniridia-absent patella syndrome
|
膝蓋骨無形成/低形成
鼠径ヘルニア
常染色体優性遺伝
A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.
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Orphanet:1069
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
|
993 (62.5%)
|
Nail-patella syndrome
---- 爪膝蓋骨症候群 (NPS; NPS1)
|
腎不全
膝蓋骨低形成
常染色体優性遺伝
Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.
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Orphanet:2614
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:H00464
Gene Reviews
|
997 (62.5%)
|
Severe generalized recessive dystrophic epidermolysis bullosa
|
ミトン変形
狭い口
眼瞼炎
常染色体劣性遺伝
Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.
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Orphanet:79408
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
|
997 (62.5%)
|
Deafness-enamel hypoplasia-nail defects syndrome
|
大きな手
歯の異常
眼瞼の異常
Deafness-enamel hypoplasia-nail defects syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.
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Orphanet:3220
日本語症例報告(J-STAGE & J-GLOBAL)
画像検索 (Google)
症例報告検索
Monarch
|
999 (62.4%)
|
Rett syndrome
---- Rett 症候群
|
中手骨の異常
歯の異常
第5指弯指
開口障害 (牙関緊急)
X連鎖優性遺伝
Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.
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Orphanet:778
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:H00440
|
1000 (62.4%)
|
Orofaciodigital syndrome type 5
|
小頭
正中口唇裂
軸後性多指症
常染色体劣性遺伝
Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).
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Orphanet:2919
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
|