501
(70.7%)

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

上口唇裂 疎な外側眉毛 肋骨欠損 近位母指

X連鎖優性遺伝

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

502
(70.7%)

chromosome 18q deletion syndrome
----
18q 欠失症候群

上口唇裂 下顎突出 内眼角贅皮 近位母指

常染色体優性遺伝 孤発性

A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts.  >> 翻訳 (Google)

503
(70.6%)

Geleophysic dysplasia 2
----
多幸小人症2

短い手掌 短い足 薄い上口唇唇紅部

常染色体優性遺伝

Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene.  >> 翻訳 (Google)

503
(70.6%)

intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
----
知的発達障害-胃腸障害-高い疼痛閾値

小さい手 幅広い口 短い足 薄い上口唇唇紅部

常染色体優性遺伝

IDDGIP is an autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet (summary by {1:Jansen et al., 2017}).  >> 翻訳 (Google)

505
(70.6%)

ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
----
欠指-外胚葉形成不全-口唇口蓋裂症候群1 (EEC1)

上口唇裂 上顎低形成 多指症 眼瞼炎

常染色体優性遺伝 Heterogeneous

An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3.  >> 翻訳 (Google)

506
(70.6%)

pseudohypoparathyroidism type 1A
----
偽性副甲状腺機能低下症 Ia 型 (PHP IA)

大きな頬 歯萌出遅延 短い中足骨 短い指 短い趾

常染色体優性遺伝

Pseudohypoparathyroidism type 1A (PHP1a) is a type of pseudohypoparathyroidism (PHP) characterized by renal resistance to parathyroid hormone (PTH), resulting in hypocalcemia, hyperphosphatemia, and elevated PTH; resistance to other hormones including thydroid stimulating hormone (TSH), gonadotropins and growth-hormone-releasing hormone (GHRH); and a constellation of clinical features known as Albright hereditary osteodystrophy (AHO).  >> 翻訳 (Google)

507
(70.6%)

microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
----
小頭-顔貌異常-腎無発生-性別不明の外性器症候群

小顎 指の重なり 眼瞼裂斜上 高口蓋

常染色体劣性遺伝

507
(70.6%)

lethal arthrogryposis-anterior horn cell disease syndrome
----
致死性関節拘縮-前角細胞病 (LAAHD)

小顎 握り手 眼瞼裂斜下 高口蓋

常染色体劣性遺伝

507
(70.6%)

Galloway-Mowat syndrome 1
----
Galloway-Mowat 症候群

内眼角贅皮 小顎 幅広い口 握り手

常染色体劣性遺伝

510
(70.6%)

tall stature-intellectual disability-renal anomalies syndrome
----
Thauvin-Robinet-Faivre 症候群

下肢湾曲 内眼角贅皮 分厚い唇紅部縁 大きな手 大頭

常染色体劣性遺伝

511
(70.5%)

acroosteolysis-keloid-like lesions-premature aging syndrome
----
早老症候群, Penttinen 型

小顎 指骨の骨融解病変 短指症候群 薄い唇紅部縁

常染色体優性遺伝

512
(70.5%)

Meier-Gorlin syndrome 5
----
Meier-Gorlin 症候群 5

三角形の顔 小顎 膝蓋骨無形成無形成 長い人中

常染色体劣性遺伝

Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene.  >> 翻訳 (Google)

512
(70.5%)

Meier-Gorlin syndrome 2
----
Meier-Gorlin 症候群 2

小顎 平坦な人中 狭い口 膝蓋骨無形成/低形成

常染色体劣性遺伝

Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene.  >> 翻訳 (Google)

514
(70.5%)

Hirschsprung disease-type D brachydactyly syndrome
----
Hirschsprung 病- D 型短指症

無神経節性巨大結腸 短い母指

Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out.  >> 翻訳 (Google)

514
(70.5%)

curved nail of fourth toe
----
湾曲爪, 第4趾

凸の指爪 短い指末節骨

常染色体劣性遺伝

514
(70.5%)

congenital absence/hypoplasia of fingers excluding thumb, unilateral
----
無指症, 片側性

無指 爪の異常 短い母指

常染色体優性遺伝

Unilateral adactylia is a terminal transverse defect of the hand characterized by the absence of the terminal portions of digits 2 to 5 with a hypoplastic thumb (adactylia).  >> 翻訳 (Google)

514
(70.5%)

brachydactyly-long thumb syndrome
----
長母指型短指症候群

短い指 短指症候群

常染色体優性遺伝

Brachydactyly - long thumb syndrome is a very rare autosomal dominant heart-hand syndrome that is characterized by bisymmetric brachydactyly accompanied by long thumbs, joint anomalies (restriction of motion at the shoulder and metacarpophalangeal joints) and cardiac conduction defects. Additional features include small hands and feet, clinodactyly, narrow shoulders with short clavicles, pectus excavatum and mild shortness of the limbs, cardiomegaly and murmur of pulmonic stenosis.It has been described in four family members from three generations, with no new cases having been reported since 1981.  >> 翻訳 (Google)

514
(70.5%)

Sugarman brachydactyly
----
Sugarman 短指症

短い指の基節骨 短指症候群

常染色体劣性遺伝

Sugarman brachydactyly is a rare, genetic, congenital limb malformation characterized by brachydactyly of fingers, with major proximal phalangeal shortening and immobile proximal interphalangeal joints, as well as dorsally and proximally placed, non-articulating great toes (with or without angulation). Radiographic findings of hands include bilateral double first metacarpals and biphalangeal fifth fingers. There have been no further descriptions in the literature since 1982.  >> 翻訳 (Google)

514
(70.5%)

syndactyly type 3
----
合指症 III 型 (SDTY3)

短い第5指 第5指中節骨欠損

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)

514
(70.5%)

heart-hand syndrome type 3
----
心手症候群, スペイン型

短い指中節骨 短指症候群

常染色体優性遺伝

Heart-hand syndrome type 3 is a very rare heart-hand syndrome, described in three members of a Spanish family to date, which is characterized by a cardiac conduction defect (sick sinus, bundle-branch block) and brachydactyly, resembling brachydactyly type C of the hands, affecting principally the middle phalanges in conjunction with an extra ossicle on the proximal phalanx of both index fingers. Feet abnormalities are more subtle.  >> 翻訳 (Google)

514
(70.5%)

brachydactyly type A3
----
短指症, A3型

短い第5指中節骨 第5指弯指

常染色体優性遺伝

514
(70.5%)

triphalangeal thumbs-brachyectrodactyly syndrome
----
三指節母指-短欠指

短い第2指 短い第3趾 短指症候群

常染色体優性遺伝

Triphalangeal thumbs-brachyectrodactyly syndrome is characterised by triphalangeal thumbs and brachydactyly of the hands. It has been described in four families and in one isolated case. Ectrodactyly of the feet and, more rarely, ectrodactyly of the hands were also reported in some family members. Transmission is autosomal dominant.  >> 翻訳 (Google)

514
(70.5%)

osteodysplasty, precocious, of Danks, Mayne, and Kozlowski
----
骨異形成, 早発, Danks, Mayne および Kozlowski

成長遅滞 短い指 短い趾

常染色体劣性遺伝

514
(70.5%)

brachydactyly type A4
----
短指症, A4型

短い第5指中節骨

常染色体優性遺伝

Brachydactyly type A4 (BDA4) is a congenital malformation characterized by brachymesophalangy affecting mainly the 2nd and the 5th digit.  >> 翻訳 (Google)

514
(70.5%)

upper limb defect-eye and ear abnormalities syndrome
----
母指, 低形成-脈絡膜コロボーマ-対耳輪低形成-難聴

停留精巣 短い母指

常染色体劣性遺伝

Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.  >> 翻訳 (Google)

514
(70.5%)

Fanconi anemia complementation group T
----
Fanconi 貧血, 相補性T群

短い母指 血小板減少

常染色体劣性遺伝

Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene.  >> 翻訳 (Google)

514
(70.5%)

Fanconi anemia complementation group J
----
Fanconi 貧血, 相補群 J

小眼球 短い母指

常染色体劣性遺伝

Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.  >> 翻訳 (Google)

514
(70.5%)

familial digital arthropathy-brachydactyly
----
指趾関節症-短指症, 家族性 (FDAB)

短い指中節骨 短い趾末節骨

常染色体優性遺伝

Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.  >> 翻訳 (Google)

514
(70.5%)

brachydactyly type A1D
----
短指症 A1型, D

発語および言語発達遅延 短い第5指中節骨

常染色体優性遺伝

Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene.  >> 翻訳 (Google)

514
(70.5%)

brachydactyly type A1C
----
短指症, A1, C型

短い第5指中節骨 短指症候群

常染色体優性遺伝 常染色体劣性遺伝

Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene.  >> 翻訳 (Google)

514
(70.5%)

septooptic dysplasia
----
中隔視神経異形成

短い指 視神経低形成

常染色体優性遺伝 常染色体劣性遺伝

Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.  >> 翻訳 (Google)

514
(70.5%)

osteochondrodysplasia, brachydactyly, and overlapping malformed digits
----
骨軟骨異形成-短指-重なった奇形指趾

漏斗胸 短い母指

常染色体劣性遺伝

514
(70.5%)

brachydactyly type A2
----
短指症, A2型 (BSA2)

外反母趾 短い第5指中節骨

常染色体優性遺伝

Brachydactyly type A2 (BDA2) is a congenital malformation characterized by shortening (hypoplasia or aplasia) of the middle phalanges of the index finger and, sometimes, of the little finger.  >> 翻訳 (Google)

514
(70.5%)

optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive
----
視神経萎縮-感音性難聴-末梢性ニューロパチー, 常染色体劣性

短い母指 進行性感音難聴

常染色体劣性遺伝 X連鎖劣性遺伝

535
(70.4%)

pseudodiastrophic dysplasia
----
偽変形性異形成

四肢近位短縮 小顎 平坦な人中 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 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.  >> 翻訳 (Google)

536
(70.4%)

Rapp-Hodgkin syndrome
----
Rapp-Hodgkin 症候群

上口唇裂 上顎低形成 合指趾症 涙点欠損

常染色体優性遺伝

A form of ectodermal dysplasia characterized by the association of anhidrotic ectodermal dysplasia with cleft lip/palate.  >> 翻訳 (Google)

537
(70.3%)

Silver-Russell syndrome 1
----
Silver-Russell 症候群 (SRS)

三角形の顔 口角下垂 小顎 短い第5指中節骨

常染色体優性遺伝 孤発性

538
(70.3%)

retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
----
低身長-難聴-色素性網膜炎-特異顔貌

幅広い母指 眼瞼裂斜上 短指症候群 薄い上口唇唇紅部

常染色体劣性遺伝

539
(70.3%)

X-linked intellectual disability, Cabezas type
----
精神遅滞, X連鎖性, 症候群性, Cabezas 型

下顎突出 分厚い下口唇唇紅部 小さい手 幅広い口

X連鎖劣性遺伝

X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.  >> 翻訳 (Google)

540
(70.3%)

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
----
Rubinstein-Taybi 症候群 2

小顎 幅広い母指 狭い口蓋 眼瞼裂斜下

常染色体優性遺伝 孤発性

Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene.  >> 翻訳 (Google)

540
(70.3%)

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
----
16p13.3 欠失症候群

小顎 幅広い母指 眼瞼裂斜下 第5指弯指 高口蓋

体細胞モザイク 常染色体優性連続遺伝子症候群

Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders.  >> 翻訳 (Google)

540
(70.3%)

Rubinstein-Taybi syndrome due to CREBBP mutations
----
Rubinstein 症候群1

内眼角贅皮 小顎 幅広い母指 狭い口 目立つ指尖パッド

常染色体優性遺伝 Heterogeneous 孤発性

Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene.  >> 翻訳 (Google)

543
(70.3%)

Hallermann-Streiff syndrome
----
Hallermann-Streiff 症候群

下口唇唇紅部外反 小顎 手の異常 眼瞼裂斜下 骨幹端拡大

孤発性

Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.  >> 翻訳 (Google)

544
(70.2%)

asphyxiating thoracic dystrophy 4
----
短肋骨胸郭異形成4 +/- 多指症

短い肋骨 短い長管骨 短指症候群 網膜変性

常染色体劣性遺伝

An asphyxiating thoracic dystrophy has material basis in compound heterozygous mutation in the TTC21B gene on chromosome 2q24.  >> 翻訳 (Google)

545
(70.2%)

SCARF syndrome
----
SCARF 症候群

内眼角贅皮 短い胸骨 長い人中

X連鎖劣性遺伝

SCARF syndrome is characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive.  >> 翻訳 (Google)

546
(70.2%)

2q37 microdeletion syndrome
----
2q37 欠失症候群

平坦な頬 眼瞼裂狭小 短い中手骨 短い中足骨 短い趾

常染色体優性遺伝 体細胞突然変

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

547
(70.2%)

fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
----
腓骨無形成-脛骨 湾曲肢異形成(CMD1; CMPD1)

乏指症 手の異常 短い 脛骨

常染色体優性遺伝 孤発性

548
(70.2%)

Cornelia de Lange syndrome 4
----
Cornelia de Lange 症候群4

分厚い眉毛 小頭 短指症候群 薄い上口唇唇紅部

常染色体優性遺伝

Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the RAD21 gene.  >> 翻訳 (Google)

549
(70.2%)

radio-renal syndrome
----
橈骨腎症候群

橈骨欠損 母指欠損 異所性腎

常染色体優性遺伝

Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.  >> 翻訳 (Google)

549
(70.2%)

VACTERL with hydrocephalus
----
VACTERL 連合-水頭症

橈側内反手 母指欠損 腎低形成

常染色体劣性遺伝

VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.  >> 翻訳 (Google)

549
(70.2%)

Fanconi anemia complementation group B
----
Fanconi 貧血, 相補群 B

橈骨欠損 母指欠損 腎無発生

X連鎖劣性遺伝

Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.  >> 翻訳 (Google)

552
(70.1%)

Singleton-Merten syndrome 1
----
Singleton-Merten 症候群1

上顎低形成 平坦な人中 髄腔拡大を伴う指趾骨拡張

常染色体優性遺伝

Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene.  >> 翻訳 (Google)

553
(70.1%)

spondylocarpotarsal synostosis syndrome
----
脊椎手根骨足根骨癒合症候群

口蓋裂 歯状突起低形成 湾曲した上腕骨 短指症候群

常染色体劣性遺伝

Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism.  >> 翻訳 (Google)

554
(70.1%)

WT limb-blood syndrome
----
WT 四肢-血液症候群

下顎後退 小顎 橈尺骨癒合 短い母指

常染色体優性遺伝

WT limb-blood syndrome is characterised by haematological anomalies (Fanconi anaemia, leukaemia and lymphoma) often appearing during childhood. Anomalies of the limbs and hands are also present: bifid or hypoplastic thumbs, cutaneous syndactyly, and ulnar and radial defects. The syndrome has been described in several families. Transmission is autosomal dominant.  >> 翻訳 (Google)

555
(70.1%)

osteogenesis imperfecta type 13
----
骨形成不全 XIII 型

くも指 ウォルム氏骨 橈骨頭脱臼 長い人中 長い睫毛

常染色体劣性遺伝

Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene.  >> 翻訳 (Google)

556
(70.1%)

asphyxiating thoracic dystrophy 5
----
短肋骨胸郭異形成5 +/- 多指症

四肢近位短縮 短い足 短指症候群 薄い上口唇唇紅部

常染色体劣性遺伝

Any Jeune syndrome in which the cause of the disease is a mutation in the WDR19 gene.  >> 翻訳 (Google)

556
(70.1%)

geleophysic dysplasia 3
----
多幸小人症3

丸い顔 四肢成長不全 短い足 短指症候群 長い人中

常染色体優性遺伝

558
(70.0%)

ventricular extrasystoles with syncopal episodes-perodactyly-robin sequence syndrome
----
心室性期外収縮-失神-横断性指趾欠損-Robin シークェンス

眼瞼裂斜下 粘膜下硬口蓋裂 趾の末節骨無形成/低形成

常染色体優性遺伝

This syndrome is characterized by cardiac arrhythmias (ventricular extrasystoles manifesting as bigeminy or multifocal tachycardia with syncopal episodes), perodactyly (hypoplasia and/or agenesis of the distal phalanges of the toes) and Pierre-Robin sequence.  >> 翻訳 (Google)

559
(70.0%)

odontotrichomelic syndrome
----
四肢欠損-外胚葉異形成-耳介変形-その他異常

4肢無肢症 上口唇裂 鼻涙管閉塞

常染色体劣性遺伝

Odontotrichomelic syndrome is characterised by malformations of all four extremities, hypoplastic nails, ear anomalies, hypotrichosis, abnormal dentition, hyperhidrosis and nasolacrimal duct obstruction. So far, it has been described in less than 10 patients. Transmission is autosomal recessive.  >> 翻訳 (Google)

560
(70.0%)

spondyloepimetaphyseal dysplasia, Shohat type
----
脊椎骨端骨幹端異形成, Shohat 型

小肢症 短い大腿骨頸部 短い肋骨 薄い唇紅部縁

常染色体劣性遺伝

Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.  >> 翻訳 (Google)

561
(70.0%)

Hartsfield-Bixler-Demyer syndrome
----
Hartsfield 症候群

上口唇裂 内眼角贅皮 前頭骨低形成 合指趾症

常染色体優性遺伝

562
(69.9%)

acromesomelic dysplasia, Maroteaux type
----
四肢先端中部異形成, Maroteaux 型

前頭突出, 額突出 橈骨低形成 短い中手骨 短い趾

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.  >> 翻訳 (Google)

563
(69.9%)

blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
----
瞼裂狭小-眼瞼下垂-合指症-低身長

下顎突出 分厚い下口唇唇紅部 皮膚性合指症 眼瞼裂狭小

常染色体劣性遺伝

Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is 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. It has been described in six members of three related families. Transmission is autosomal recessive.  >> 翻訳 (Google)

564
(69.9%)

fine-Lubinsky syndrome
----
短頭-難聴-白内障-小口-精神遅滞

先細りの指 平坦な頬 眼瞼裂斜下 短指症候群 薄い上口唇唇紅部

常染色体劣性遺伝 孤発性

Fine-Lubinsky syndrome is characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies.  >> 翻訳 (Google)

565
(69.9%)

Armfield syndrome
----
Armfield X連鎖性精神遅滞症候群

口蓋裂 小さい手 手形態異常 短い足

X連鎖遺伝 X連鎖劣性遺伝

X-linked intellectual disability, Armfield type is characterised by intellectual deficiency, short stature, seizures, and small hands and feet. It has been described in six males from three generations of one family. Three of them also had cataracts/glaucoma and two of them had cleft palate. The locus has been mapped to the terminal 8 Mb of Xq28.  >> 翻訳 (Google)

566
(69.9%)

intellectual developmental disorder with hypertelorism and distinctive facies
----
知的発達障害-両眼開離-特異顔貌

先細りの指 狭い下顎 長い人中 長い眼瞼裂

常染色体優性遺伝

566
(69.9%)

PEHO syndrome
----
PEHO 症候群

テント状上口唇唇紅部 下顎後退 先細りの指 内眼角贅皮

常染色体劣性遺伝

PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.  >> 翻訳 (Google)

566
(69.9%)

alpha thalassemia-intellectual disability syndrome type 1
----
αサラセミア/精神遅滞症候群, 16番染色体関連)

下顎後退 内眼角贅皮 指の橈側偏位 長い人中

常染色体優性遺伝 連続遺伝子症候群

Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.  >> 翻訳 (Google)

566
(69.9%)

intellectual disability, Buenos-Aires type
----
精神遅滞, ブエノスアイレス型

下顎突出 眼瞼裂斜下 第5指弯指 薄い上口唇唇紅部

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.  >> 翻訳 (Google)

566
(69.9%)

8q22.1 microdeletion syndrome
----
Nablus 仮面様顔症候群

下顎後退 先細りの指 眼瞼裂狭小 薄い上口唇唇紅部

常染色体優性遺伝 常染色体劣性遺伝 孤発性

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.  >> 翻訳 (Google)

566
(69.9%)

blepharophimosis - intellectual disability syndrome, Verloes type
----
瞼裂狭小-顔面奇形-性器奇形-精神遅滞

下顎後退 内眼角外方偏位 内転母指 平坦な人中

常染色体劣性遺伝

566
(69.9%)

Rienhoff syndrome
----
Loeys-Dietz 症候群 5

くも指 下顎後退 平坦な人中 眼瞼裂斜下

常染色体優性遺伝

Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS, no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection.  >> 翻訳 (Google)

566
(69.9%)

chromosome 2p16.1-p15 deletion syndrome
----
染色体 2p16.1-p15 欠失症候群

くも指 下顎後退 内眼角贅皮 薄い上口唇唇紅部

孤発性

2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.  >> 翻訳 (Google)

566
(69.9%)

freeman-Sheldon syndrome
----
関節拘縮症, 遠位, 2A型 (DA2A)

下顎突出 内眼角贅皮 内転母指 長い人中

常染色体優性遺伝

Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.  >> 翻訳 (Google)

575
(69.9%)

RAB23-related Carpenter syndrome
----
Carpenter 症候群1

内眼角贅皮 小顎 短指症候群 趾の中節骨末節骨無形成/低形成 高口蓋

常染色体劣性遺伝

Any Carpenter syndrome in which the cause of the disease is a mutation in the RAB23 gene.  >> 翻訳 (Google)

576
(69.9%)

ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
----
欠指-外胚葉形成不全-口唇口蓋裂症候群 3 (EEC3)

上口唇裂 上顎低形成 眼瞼炎 裂手

常染色体優性遺伝

Any EEC syndrome in which the cause of the disease is a mutation in the TP63 gene.  >> 翻訳 (Google)

577
(69.7%)

Barber-Say syndrome
----
Barber-Say 症候群

内眼角外方偏位 小顎 薄い唇紅部縁

常染色体優性遺伝

Barber Say syndrome (BSS) is a rare ectodermal dysplasia with neonatal onset characterized by congenital generalized hypertrichosis, atrophic skin, ectropion and microstomia.  >> 翻訳 (Google)

577
(69.7%)

deafness-intellectual disability, Martin-Probst type syndrome
----
精神遅滞, X連鎖性, 症候群性, Martin-Probst 型

内眼角贅皮 分厚い下口唇唇紅部 小顎

X連鎖劣性遺伝

Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.  >> 翻訳 (Google)

577
(69.7%)

gapo syndrome
----
GAPO 症候群

分厚い下口唇唇紅部 小顎 疎な睫毛

常染色体劣性遺伝

GAPO syndrome is a multiple congenital anomalies (MCA) syndrome involving connective tissue characterized by Growth retardation, Alopecia, Pseudoanodontia and Ocular manifestations  >> 翻訳 (Google)

580
(69.6%)

tricho-retino-dento-digital syndrome
----
櫛けずれない毛髪-網膜色素ジストロフィー-歯異常-短指症

乏歯症 短い中手骨 短い指の基節骨 短い趾

常染色体優性遺伝

Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome, congenital hypotrichosis and dental abnormalities such as oligodontia or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.  >> 翻訳 (Google)

580
(69.6%)

spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
----
脊椎骨幹端異形成-錐体桿体ジストロフィー

不正咬合 四肢近位短縮 短い中手骨 短い指

常染色体劣性遺伝

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.  >> 翻訳 (Google)

582
(69.6%)

Xq27.3q28 duplication syndrome
----
Xq27.3-q28 重複症候群

小さい手 短い足 薄い唇紅部縁

X連鎖劣性遺伝

Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.  >> 翻訳 (Google)

582
(69.6%)

developmental and epileptic encephalopathy, 2
----
てんかん性脳症, 早期乳児性, 2

分厚い下口唇唇紅部 短い手掌 短い足

X連鎖優性遺伝

Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene.  >> 翻訳 (Google)

584
(69.6%)

MGAT2-CDG
----
先天性グリコシル化異常症 IIa 型 (CDGS IIa)

下口唇唇紅部外反 下顎後退 眼瞼裂斜下 細い長管骨 近位母指

常染色体劣性遺伝

MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene MGAT2 (14q21).  >> 翻訳 (Google)

585
(69.5%)

humerus trochlea aplasia
----
上腕骨滑車無形成

口蓋裂 短い上腕骨

常染色体優性遺伝

Humerus trochlea aplasia is an extremely rare familial bone deformity described only in Japanese patients to date. The deformity is bilateral in nearly half of patients (with bilateral involvement, the condition is symmetrical) and sometimes causes ulnar nerve palsy or cubitus varus.  >> 翻訳 (Google)

586
(69.5%)

Meier-Gorlin syndrome 4
----
Meier-Gorlin 症候群 4

分厚い下口唇唇紅部 小顎 狭い口 膝蓋骨無形成無形成

常染色体劣性遺伝

Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene.  >> 翻訳 (Google)

587
(69.5%)

cartilage-hair hypoplasia
----
軟骨毛髪低形成

歯状突起低形成 疎な眉毛 疎な睫毛 短い手掌

常染色体劣性遺伝

Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.  >> 翻訳 (Google)

588
(69.4%)

Sotos syndrome 1
----
Sotos 症候群1

下顎突出 外反膝 大きな手 眼瞼裂斜下 高狭口蓋

常染色体優性遺伝 孤発性

Any Sotos syndrome in which the cause of the disease is a mutation in the NSD1 gene.  >> 翻訳 (Google)

589
(69.4%)

pseudoleprechaunism syndrome, Patterson type
----
Patterson 偽妖精症

大きな手 歯状突起低形成 目立つ鼻 短い長管骨

孤発性

Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.  >> 翻訳 (Google)

590
(69.4%)

intellectual developmental disorder with cardiac defects and dysmorphic facies
----
知的発達障害-心奇形-顔貌異常

大頭 指の重なり 薄い上口唇唇紅部 連続眉毛

常染色体劣性遺伝

591
(69.4%)

Shprintzen-Goldberg syndrome
----
Shprintzen-Goldberg 頭蓋骨縫合早期癒合症候群

くも指 小顎 橈骨頭脱臼 狭い口蓋 眼瞼裂斜下

常染色体優性遺伝 孤発性

Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.  >> 翻訳 (Google)

592
(69.4%)

Rothmund-Thomson syndrome type 2
----
Rothmund-Thomson 症候群

下顎突出 前腕減数奇形 歯萌出遅延 短い母指

常染色体劣性遺伝

Rothmund-Thomson syndrome type 2 is a subform of Rothmund-Thomson syndrome (RTS) presenting with a characteristic facial rash (poikiloderma) and frequently associated with short stature, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, congenital bone defects and an increased risk of osteosarcoma in childhood and squamous cell carcinoma later in life.  >> 翻訳 (Google)

593
(69.3%)

Skraban-Deardorff syndrome
----
Skraban-Deardorff 症候群

分厚い上口唇唇紅部 小顎 疎な外側眉毛

常染色体優性遺伝

594
(69.3%)

Ehlers-Danlos syndrome, progeroid type 1
----
Ehlers-Danlos 症候群, 脊椎異形成型, 1

くも指 口蓋裂 橈尺骨癒合 狭い口 短い鎖骨

常染色体劣性遺伝

595
(69.3%)

spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
----
脊椎骨幹端異形成, 短肢-手型

小顎 短い中手骨 短い長管骨 高口蓋

常染色体劣性遺伝

Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal.  >> 翻訳 (Google)

596
(69.3%)

Nestor-Guillermo progeria syndrome
----
Nestor-Guillermo プロゲリア症候群)

前腕の異常 小顎 手の末節骨のの骨融解病変 歯混雑 疎な睫毛

常染色体劣性遺伝

597
(69.3%)

chromosome 17p13.1 deletion syndrome
----
17p13.1 欠失症候群

内眼角贅皮 短い手掌 短い足 高口蓋

常染色体優性遺伝 連続遺伝子症候群

598
(69.3%)

hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
----
水頭症-Sprengel 奇形-肋骨脊椎異形成

下顎突出 内眼角贅皮 短指症候群 高口蓋

常染色体優性遺伝 X連鎖優性遺伝

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)

599
(69.2%)

Mietens syndrome
----
精神遅滞症候群, Mietens-Weber 型

前腕成長不良 狭い鼻

常染色体劣性遺伝

Mietens syndrome is a very rare syndrome consisting of corneal opacity, nystagmus, strabismus, flexion contracture of the elbows with dislocation of the head of the radius and abnormally short ulnae and radii.  >> 翻訳 (Google)

600
(69.2%)

hydrops fetalis, nonimmune, with gracile bones and dysmorphic features
----
胎児水腫, 非免疫性-細い骨と形態異常

上向きの鼻孔 上肢成長不全

常染色体劣性遺伝