601
(69.1%)

Poland syndrome
----
Poland 症候群

乳房の異常 片側性乏指趾症 短い肋骨

常染色体優性遺伝

Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly.  >> 翻訳 (Google)

602
(69.1%)

brachydactyly-nystagmus-cerebellar ataxia syndrome
----
短指症-眼振-小脳性運動失調

斜視 短い中手骨 短い中足骨

常染色体優性遺伝

Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients.  >> 翻訳 (Google)

602
(69.1%)

rhizomelic dysplasia, Patterson-Lowry type
----
四肢近位短縮性異形成, Patterson- Lowry 型

扁平脊椎 短い上腕骨 短い中手骨

常染色体劣性遺伝

Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia.  >> 翻訳 (Google)

602
(69.1%)

fibular hypoplasia and complex brachydactyly
----
腓骨無形成-複合短指

短い中手骨 短指症候群 腓骨低形成 腓骨無形成

常染色体劣性遺伝

602
(69.1%)

metaphyseal dysplasia without hypotrichosis
----
骨幹端異形成-寡毛症なし

小肢症 短い中手骨 短い長管骨 脊柱の異常

常染色体劣性遺伝

602
(69.1%)

Czech dysplasia, metatarsal type
----
チェコ異形成

扁平脊椎 短い中手骨 短い中足骨 短い趾

常染色体優性遺伝

Czech dysplasia, metatarsal type is a form of skeletal dysplasia characterised by severe arthropathy beginning in childhood and hypoplasia/dysplasia of the third, fourth and/or fifth toes.  >> 翻訳 (Google)

602
(69.1%)

Satoyoshi syndrome
----
里吉症候群

子宮低形成 短い中手骨 短い中足骨

孤発性

Satoyoshi syndrome is a rare syndrome characterized by progressive, painful, intermittent muscle spasms. These muscle spasms usually start between 6-15 years old. Other symptoms of the syndrome may include diarrhea and an inability of the digestive tract to absorb certain foods, especially carbohydrates (malabsorption). People affected by Satoyoshi syndrome may also have loss of hair on the head and body (alopecia universalis), short stature, and skeletal abnormalities. Women with Satoyoshi syndrome may not have a menstrual cycle (amenorrhea). In all published cases, only one person in a family has Satoyoshi syndrome. This is even true when the person with Satoyoshi syndrome comes from a large family. Satoyoshi syndrome seems to be more common in Japan. The exact cause of the syndrome is unknown, but some researchers think it may be an autoimmune disease. Satoyoshi syndrome can be diagnosed when a doctor sees symptoms that are consistent with the syndrome. The diagnosis can be confirmed by a variety of laboratory tests. Treatment for Satoyoshi syndrome includes medication to suppress the immune system.  >> 翻訳 (Google)

608
(69.0%)

tetraamelia syndrome 1
----
無四肢症候群 1

4肢無肢症 上口唇裂 口蓋裂 小顎

常染色体劣性遺伝 Heterogeneous

608
(69.0%)

CHILD syndrome
----
先天性半身異形成-魚鱗癬様紅皮症-同側四肢欠損 (特に四肢欠損変形)

上口唇裂 四肢無形成/低形成 小顎

X連鎖優性遺伝 Heterogeneous

CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.  >> 翻訳 (Google)

610
(69.0%)

glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome
----
Weill-Marchesani 症候群 2

上顎低形成 幅広い中手骨 浅い眼窩 狭い口蓋 短指症候群

常染色体優性遺伝

Glaucoma-ectopia-microspherophakia-stiff joints-short stature syndrome is characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome.  >> 翻訳 (Google)

610
(69.0%)

Weill-Marchesani syndrome 1
----
Weill-Marchesani 症候群 1

上顎低形成 幅広い中手骨 浅い眼窩 狭い口蓋 短指症候群

常染色体劣性遺伝

Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene.  >> 翻訳 (Google)

612
(69.0%)

Joubert syndrome 14
----
Joubert 症候群14

内眼角贅皮 平坦な頬 短い人中 軸後性多指趾症

常染色体劣性遺伝

Any Joubert syndrome in which the cause of the disease is a mutation in the TMEM237 gene.  >> 翻訳 (Google)

613
(69.0%)

Hurler syndrome
----
Hurler 症候群

分厚い唇紅部縁 大腿骨頭低形成 歯肉過成長 短い鎖骨

常染色体劣性遺伝

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.  >> 翻訳 (Google)

614
(69.0%)

multiple benign circumferential skin creases on limbs 1
----
皮膚の溝, 先天性対称性円周性, 1

内眼角贅皮 口蓋裂 小顎 長い指

常染色体優性遺伝

614
(69.0%)

Gordon syndrome
----
関節拘縮症, 遠位, 3型

内眼角贅皮 小顎 短い指骨 粘膜下硬口蓋裂

常染色体優性遺伝

Gordon syndrome, also known as distal arthrogryposis type 3, is an extremely rare multiple congenital malformation syndrome characterized by congenital contractures of hand and feet with variable degrees of severity of camptodactyly, clubfoot and, less frequently, cleft palate. Intelligence is normal but in some cases, additional abnormalities, such as short stature, kyphoscoliosis, ptosis, micrognathia, and cryptorchidism may also be present. Gordon syndrome, Marden-Walker syndrome and arthrogryposis with oculomotor limitation and electroretinal anomalies clinically and genetically overlap, and could represent variable expressions of the same condition.  >> 翻訳 (Google)

614
(69.0%)

Carey-Fineman-Ziter syndrome
----
Carey-Fineman-Ziter 症候群

先細りの指 内眼角贅皮 口蓋裂 小顎

常染色体劣性遺伝

Carey-Fineman-Ziter (CFZ) syndrome is a rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre-Robin sequence (micrognathia, glossoptosis, and high-arched or cleft palate), unusual face, and growth delay.  >> 翻訳 (Google)

614
(69.0%)

Dubowitz syndrome
----
Dubowitz 症候群

内眼角贅皮 小顎 第5指弯指 粘膜下硬口蓋裂

常染色体劣性遺伝

Dubowitz syndrome (DS) is a rare multiple congenital syndrome characterized primarly by growth retardation, microcephaly, distinctive facial dysmorphism, cutaneous eczema, a mild to severe intellectual deficit and genital abnormalities.  >> 翻訳 (Google)

618
(68.9%)

lethal Kniest-like dysplasia
----
様異形成, 致死性

口蓋裂 四肢近位短縮 狭い口 短い肋骨 短指症候群

常染色体劣性遺伝

Lethal Kniest-like dysplasia is a severe lethal skeletal dysplasia. It has been described in two sibs (one male and one female) born to nonconsanguineous parents. It is characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities.  >> 翻訳 (Google)

619
(68.9%)

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

下顎突出 幅広い母指 平坦な頬 短い指

常染色体劣性遺伝

Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.  >> 翻訳 (Google)

620
(68.9%)

Stankiewicz-Isidor syndrome
----
Stankiewicz-Isidor 症候群

小顎 母指欠損 短い母指 顔面非対称

常染色体優性遺伝

621
(68.9%)

Hunter-Macdonald syndrome
----
Hunter-MacDonald 症候群

平坦な頬 眼瞼裂狭小 第5指弯指 薄い上口唇唇紅部 骨端異形成

常染色体優性遺伝

622
(68.9%)

frontometaphyseal dysplasia 1
----
前頭骨幹端異形成1

くも指 下顎角前切痕 幅広い手の指骨 眼瞼裂斜下 高口蓋

X連鎖劣性遺伝

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

623
(68.8%)

Malan overgrowth syndrome
----
Sotos 症候群2

下口唇唇紅部外反 下顎突出 眼瞼裂斜下 長い指

常染色体優性遺伝

Malan overgrowth syndrome is a multiple congenital anomalies syndrome characterized by moderate postnatal overgrowth, macrocephaly, craniofacial dysmorphism (including high forehead and anterior hairline, downslanting palpebral fissures, prominent chin), developmental delay, and intellectual disability. Additional variable manifestations include unusual behavior, with or without autistic traits, as well as ocular (e.g. strabismus, nystagmus, optic disc pallor/hypoplasia), gastrointestinal (e.g. vomiting, chronic diarrhea, constipation), musculoskeletal (e.g. scoliosis and pectus excavatum), hand/foot (e.g. long, tapered fingers) and central nervous system (e.g. slightly enlarged ventricles) anomalies.  >> 翻訳 (Google)

624
(68.8%)

autosomal recessive cutis laxa type 2C
----
弛緩性皮膚, 常染色体劣性, IIC型

内反(眼瞼) 後側弯 握り手 長い人中

常染色体劣性遺伝

An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.  >> 翻訳 (Google)

625
(68.8%)

brachydactyly type E1
----
短指症, E1 型

丸い顔 多発性埋没歯 短い中手骨 短い中足骨 短い鎖骨

常染色体優性遺伝

Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene.  >> 翻訳 (Google)

625
(68.8%)

CODAS syndrome
----
CODAS 症候群

上向きの鼻孔 歯状突起低形成 歯萌出遅延 短い上腕骨 短い中手骨

常染色体劣性遺伝

Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.  >> 翻訳 (Google)

627
(68.8%)

short-rib thoracic dysplasia 13 with or without polydactyly
----
短肋骨性胸郭異形成 13 +/- 多指症

口蓋裂 唇裂 四肢近位短縮 小顎後退

常染色体劣性遺伝

An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23.  >> 翻訳 (Google)

628
(68.7%)

mesomelic dysplasia, Kantaputra type
----
四肢中部短縮性異形成, Kantaputra 型 (MMDK; MDK)

四肢中部短縮 橈側湾曲

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.  >> 翻訳 (Google)

628
(68.7%)

spondyloepimetaphyseal dysplasia, Missouri type
----
脊椎骨端骨幹端異形成, ミズーリ型

四肢近位短縮 扁平脊椎 橈側湾曲

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)

630
(68.7%)

Hall-Riggs syndrome
----
Hall-Riggs 精神遅滞症候群

U字型上口唇唇紅部 内眼角贅皮 小頭 短指症候群 骨幹端異形成

常染色体劣性遺伝

Hall-Riggs syndrome is a very rare syndrome consisting of microcephaly with facial dysmorphism, spondylometaepiphyseal dysplasia and severe intellectual deficit.  >> 翻訳 (Google)

631
(68.7%)

MOGS-CDG
----
先天性グリコシル化異常症 IIb (CDG2B)

下顎後退 握り手 長い睫毛 高口蓋

常染色体劣性遺伝

MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).  >> 翻訳 (Google)

631
(68.7%)

macrocephaly, dysmorphic facies, and psychomotor retardation
----
大頭-顔貌異常-精神運動発達遅滞

くも指 下顎突出 大きな手 眼瞼裂斜下 高口蓋

常染色体劣性遺伝

633
(68.6%)

Meier-Gorlin syndrome 7
----
Meier-Gorlin 症候群 7

Thin eyebrow 口蓋裂 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 CDC45 gene.  >> 翻訳 (Google)

634
(68.6%)

split hand-foot malformation 1
----
裂手/裂足奇形1

乏指症 口蓋裂

常染色体優性遺伝

Split-hand/foot malformation mapped to chromosome 7q21.3  >> 翻訳 (Google)

634
(68.6%)

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

口蓋裂 母指欠損

常染色体劣性遺伝

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

636
(68.6%)

rhizomelic chondrodysplasia punctata type 2
----
近位四肢短縮性点状軟骨異形成 2 型 (RCDP2)

小顎 短い上腕骨 高口蓋

常染色体劣性遺伝

Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene.  >> 翻訳 (Google)

637
(68.6%)

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

下顎後退 分厚い眉毛 小さい手 歯不正配列

X連鎖劣性遺伝

Wilson-Turner syndrome (WTS) is a very rare X-linked multisystem genetic disease characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature.  >> 翻訳 (Google)

638
(68.5%)

microcephaly, growth retardation, cataract, hearing loss, and unusual appearance
----
小頭-成長遅滞-白内障-難聴-異常外観

下顎後退 内眼角贅皮 短い手掌

常染色体劣性遺伝

639
(68.5%)

achondrogenesis type II
----
無軟骨発生症 II 型 (ACG2)

口蓋裂 短い肋骨 短い長管骨 (手)

常染色体優性遺伝

Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.  >> 翻訳 (Google)

640
(68.5%)

peroxisome biogenesis disorder 5A (Zellweger)
----
ペルオキシソーム生合成異常症5A (Zellweger)

内眼角贅皮 口蓋裂 小顎 手掌横線 骨端点状石灰化

常染色体劣性遺伝

641
(68.4%)

anauxetic dysplasia 1
----
成長不全性異形成1

四肢近位短縮 減歯症 短い指 短い趾

常染色体劣性遺伝

642
(68.3%)

Meckel syndrome, type 1
----
Meckel 症候群1型

上口唇裂 小顎 幅広い口 軸後性多指症 長管骨湾曲

常染色体劣性遺伝

Any Meckel syndrome in which the cause of the disease is a mutation in the MKS1 gene.  >> 翻訳 (Google)

643
(68.3%)

Schuurs-Hoeijmakers syndrome
----
Schuss-Hoeijmakers 症候群

大きな手 幅広い口 眼瞼裂斜下 薄い上口唇唇紅部

常染色体優性遺伝

Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or occular defects, may be observed.  >> 翻訳 (Google)

644
(68.3%)

Sakati-Nyhan syndrome
----
尖頭多合指症 III 型 (ACPS III)

下肢発育不全 下顎突出 幅広い母指 歯混雑 浅い眼窩

常染色体優性遺伝

An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.  >> 翻訳 (Google)

645
(68.3%)

fucosidosis
----
フコシドーシス

分厚い下口唇唇紅部 副鼻腔欠損/低形成 結膜血管蛇行

常染色体劣性遺伝

Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.  >> 翻訳 (Google)

646
(68.3%)

chromosome 6pter-p24 deletion syndrome
----
染色体 6pter-p24欠失症候群

上口唇裂 内眼角贅皮 平坦な頬 股関節異形成

孤発性

Distal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.  >> 翻訳 (Google)

647
(68.2%)

osteogenesis imperfecta type 7
----
骨形成不全 VII 型

丸い顔 小肢症 長い人中

常染色体劣性遺伝

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

648
(68.2%)

acrofacial dysostosis Cincinnati type
----
肢端顔異骨症, Cincinnati 型

口蓋裂 大腿骨弯曲 小顎 眼瞼裂斜下

常染色体優性遺伝

Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene.  >> 翻訳 (Google)

648
(68.2%)

lethal restrictive dermopathy
----
拘束性皮膚症, 致死性)

小顎 睫毛欠損 粘膜下硬口蓋裂 長管骨の過剰管状化

常染色体劣性遺伝 Heterogeneous

Restrictive dermopathy (RD) is a neonatal lethal genetic disease characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities.  >> 翻訳 (Google)

650
(68.2%)

peroxisome biogenesis disorder 2A (Zellweger)
----
ペルオキシソーム生合成異常症2A (Zellweger)

内眼角贅皮 口蓋裂 小顎 手掌横線

常染色体劣性遺伝

651
(68.2%)

thumb deformity-alopecia-pigmentation anomaly syndrome
----
母指奇形-禿頭

単一正中上顎切歯 短い母指

常染色体優性遺伝

Thumb deformity-alopecia-pigmentation anomaly syndrome is a rare, genetic, congenital limb malformation syndrome characterized by short stature, sparse scalp hair, hypoplastic, proximally-placed thumbs, and skin hyperpigmentation with areas of 'raindrop' depigmentation. Presence of a single, upper central incisor has also been reported. There have been no further descriptions in the literature since 1988.  >> 翻訳 (Google)

651
(68.2%)

binder syndrome
----
上顎鼻異形成, Binder 型

不正咬合 短い指末節骨

Heterogeneous

Binder syndrome is a rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex.  >> 翻訳 (Google)

651
(68.2%)

nephrosis-deafness-urinary tract-digital malformations syndrome
----
ネフローゼ-難聴-尿路/指趾奇形

二分した口蓋垂 短い母指末節骨

常染色体劣性遺伝 X連鎖優性遺伝

Nephrosis-deafness-urinary tract-digital malformations syndrome is characterised by anomalies of the urinary tract, thumbs and big toes, deafness and nephrosis. It has been described in five brothers. The mode of transmission has not been clearly established but seems to be either autosomal recessive or X-linked dominant.  >> 翻訳 (Google)

651
(68.2%)

Brachymorphism-onychodysplasia-dysphalangism syndrome
----
低身長-爪異形成-指趾骨異常症候群

幅広い口 短い第5指中節骨

常染色体優性遺伝

Brachymorphism-onychodysplasia-dysphalangism (BOD) is a very rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.  >> 翻訳 (Google)

651
(68.2%)

Stern-Lubinsky-Durrie syndrome
----
角膜-皮膚-骨症候群

歯の異常 短い指末節骨

常染色体優性遺伝

Stern-Lubinsky-Durrie syndrome is characterised by corneal epithelial changes (associated with photophobia and burning and watering of the eyes), diffuse palmoplantar hyperkeratosis, distal onycholysis, brachydactyly, short stature, dental problems, and premature birth. It has been described in seven individuals from three generations of one family. It is transmitted as an autosomal dominant trait.  >> 翻訳 (Google)

651
(68.2%)

progressive myoclonic epilepsy type 9
----
れんかん, ミオクローヌス, 9

小舌 短い母指

常染色体劣性遺伝

Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the LMNB2 gene.  >> 翻訳 (Google)

651
(68.2%)

symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
----
遠位指趾骨癒合-小歯症-歯髄石-狭い顴骨弓

小歯 短い指中節骨

常染色体優性遺伝

658
(68.2%)

stapes ankylosis with broad thumbs and toes
----
あぶみ骨強直-幅広い母指/母趾

幅広い母指 短い指末節骨 鼻翼未発達

常染色体優性遺伝

Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia.  >> 翻訳 (Google)

659
(68.1%)

cleft lip/palate-ectodermal dysplasia syndrome
----
口唇口蓋裂-外胚葉形成不全症候群

上口唇裂 平坦な頬 掌蹠過角化症 疎な睫毛

常染色体劣性遺伝

An ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.  >> 翻訳 (Google)

660
(68.1%)

osteogenesis imperfecta type 8
----
骨形成不全症 VIII 型

丸い顔 橈側湾曲 短い中手骨

常染色体劣性遺伝

Any osteogenesis imperfecta in which the cause of the disease is a mutation in the P3H1 gene.  >> 翻訳 (Google)

661
(68.1%)

rhizomelic dysplasia, scoliosis, and retinitis pigmentosa
----
四肢近位異形成-側弯-色素性網膜炎

エナメル質形成不全 短い上腕骨 短い肋骨

常染色体劣性遺伝

662
(68.1%)

cerebrooculonasal syndrome
----
大脳眼鼻症候群

内眼角贅皮 幅広い人中 平坦な頬 軸後性多指症

常染色体優性遺伝

Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay.  >> 翻訳 (Google)

662
(68.1%)

hypomyelinating leukodystrophy 10
----
白質ジストロフィー, ミエリン形成不全性, 10

くも指 平坦な人中 平坦な頬 眼瞼裂斜下

常染色体劣性遺伝

Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene.  >> 翻訳 (Google)

664
(68.1%)

Uruguay Faciocardiomusculoskeletal syndrome
----
ウルグァイ顔心筋骨格症候群

下口唇唇紅部外反 下顎後退 幅広い手掌 眼瞼裂斜下

X連鎖劣性遺伝

665
(68.1%)

rhizomelic chondrodysplasia punctata type 3
----
四肢近位短縮性点状軟骨異形成 3 型

成長障害 (成長不全) 短い上腕骨 短い大腿骨

常染色体劣性遺伝

Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene.  >> 翻訳 (Google)

665
(68.1%)

VACTERL association, X-linked, with or without hydrocephalus
----
VACTERL 連合-+/- 水頭症, X連鎖性

尿道閉鎖 橈骨欠損 短い上腕骨

X連鎖劣性遺伝

667
(68.1%)

oculoauriculovertebral spectrum with radial defects
----
片側顔面発育不全-橈骨側異常

三指節母指 口蓋裂 短い下顎枝 非正中口唇裂

常染色体優性遺伝

Oculoauriculovertebral spectrum (OAVS) with radial defects is a rare branchial arches and limb primordia development disorder characterized by variable degrees of uni- or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (incl. facial asymmetry, external, middle, and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.  >> 翻訳 (Google)

667
(68.1%)

Catel-Manzke syndrome
----
Catel-Manzke 症候群

上口唇裂 小顎 第5指弯指 舌根沈下

常染色体劣性遺伝

Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence comprising micrognathia, cleft palate and glossoptosis.  >> 翻訳 (Google)

669
(68.0%)

absent radius-anogenital anomalies syndrome
----
橈骨無形成, X連鎖性

橈骨欠損 水頭症

X連鎖遺伝

Absent radius-anogenital anomalies syndrome is a rare, genetic limb reduction defects syndrome characterized by bilateral radial aplasia/hypoplasia manifesting with absent/short forearms in association with anogenital abnormalities (e.g. hypospadias or imperforate anus). Additional features reported include hydrocephalus and absent preaxial digits. There have been no further descriptions in the literature since 1993.  >> 翻訳 (Google)

670
(68.0%)

Lenz-Majewski hyperostotic dwarfism
----
Lenz-Majewski 過骨性小人症

上腕骨橈骨癒合 小顎 指関節過伸展 歯の異常 涙管狭窄

常染色体優性遺伝 孤発性

Lenz-Majewski hyperostotic dwarfism is an extremely rare syndrome associating dwarfism, characteristic facial appearance, cutis laxa and progressive bone sclerosis.  >> 翻訳 (Google)

671
(68.0%)

Brachymetatarsus 4
----
中足骨短縮 IV

短い第4中足骨 短い第4趾

常染色体優性遺伝

671
(68.0%)

anonychia-onychodystrophy with brachydactyly type b and ectrodactyly
----
無爪症-爪ジストロフィー-B型短指症-欠指症

B型短指症 外胚葉形成不全 短い中足骨

常染色体優性遺伝

673
(67.9%)

Potocki-Shaffer syndrome
----
Potocki-Shaffer 症候群

内眼角贅皮 手掌横線 短い人中 短指症候群 短頭

常染色体優性遺伝 連続遺伝子症候群

Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2).  >> 翻訳 (Google)

674
(67.9%)

PARC syndrome
----
PARC 症候群

口蓋裂 小顎後退 睫毛欠損

常染色体優性遺伝

PARC syndrome is a rare genetic developmental defect during embryogenesis syndrome characterized by the association of congenital poikiloderma (P), generalized alopecia (A), retrognathism (R) and cleft palate (C). There have been no further descriptions in the literature since 1990.  >> 翻訳 (Google)

674
(67.9%)

Treacher Collins syndrome 2
----
Treacher Collins 症候群 2 (TCS2)

口蓋裂 小顎 眼瞼裂斜下

常染色体優性遺伝 常染色体劣性遺伝

Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene.  >> 翻訳 (Google)

674
(67.9%)

agnathia-otocephaly complex
----
無下顎-耳頭症複合

口蓋裂 小顎 眼瞼裂斜下

常染色体優性遺伝 常染色体劣性遺伝

Agnathia-holoprosencephaly-situs inversus syndrome is 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)

674
(67.9%)

Schilbach-Rott syndrome
----
Schilbach-Rott 症候群

内眼角贅皮 小顎 粘膜下硬口蓋裂

常染色体優性遺伝

Schilbach-Rott syndrome (SRS) is an autosomal dominant dysmorphic disorder that is characterized by dysmorphic facies with hypotelorism, blepharophimosis, and cleft palate, and the frequent occurrence of hypospadias in males.  >> 翻訳 (Google)

674
(67.9%)

Cree intellectual disability syndrome
----
Cree 精神遅滞症候群

小顎 眼瞼裂斜下 軟口蓋裂

常染色体劣性遺伝

674
(67.9%)

Bailey-Bloch congenital myopathy
----
ミオパチー, 先天性, Baily-Bloch

口蓋裂 小顎 眼瞼裂斜下

常染色体劣性遺伝

Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.  >> 翻訳 (Google)

674
(67.9%)

Ritscher-Schinzel syndrome 1
----
Ritscher-Schinzel 症候群1

口蓋裂 小顎 眼瞼裂斜下

常染色体劣性遺伝

Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the WASHC5 gene.  >> 翻訳 (Google)

674
(67.9%)

diaphanospondylodysostosis
----
透明脊椎異骨症

内眼角贅皮 口蓋裂 小顎

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.  >> 翻訳 (Google)

682
(67.9%)

Fanconi anemia complementation group C
----
Fanconi 貧血, 相補群C (FANCC)

小頭 橈骨欠損 短い母指

常染色体劣性遺伝

Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.  >> 翻訳 (Google)

682
(67.9%)

Fanconi anemia complementation group E
----
Fanconi 貧血, 相補群 E (FANCE)

小頭 橈骨欠損 短い母指

常染色体劣性遺伝

Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.  >> 翻訳 (Google)

682
(67.9%)

Fanconi anemia complementation group A
----
Fanconi 貧血, 相補性A群(FANCA)

小頭 橈骨欠損 短い母指

常染色体劣性遺伝

Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway.  >> 翻訳 (Google)

682
(67.9%)

Fanconi anemia complementation group D2
----
Fanconi 貧血, 相補群D2 (FANCD2)

小頭 橈骨欠損 短い母指

常染色体劣性遺伝

Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing.  >> 翻訳 (Google)

686
(67.8%)

intellectual disability, autosomal dominant 13
----
精神遅滞, 常染色体優性13

小さい手 眼瞼裂斜下

常染色体優性遺伝

Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene.  >> 翻訳 (Google)

686
(67.8%)

X-linked intellectual disability, Stocco dos Santos type
----
Stocco dos Santos X連鎖性精神遅滞症候群 (SDSX)

内眼角贅皮 小さい手 短い足

X連鎖遺伝

688
(67.7%)

Noonan syndrome 1
----
Noonan 症候群 1 (NS1)

内眼角贅皮 小顎 短指症候群 高口蓋

常染色体優性遺伝

Noonan syndrome caused by mutations in the PTPN11 gene.  >> 翻訳 (Google)

689
(67.7%)

anonychia-ectrodactyly
----
無爪症-欠指症

中手骨無形成 外胚葉形成不全

常染色体優性遺伝

689
(67.7%)

split hand-foot malformation 2
----
裂手/裂足奇形 2 (SHFM2)

短い中手骨 裂手

X連鎖遺伝

A split-hand/foot malformation that has material basis in variation in the chromosome region Xq26.  >> 翻訳 (Google)

689
(67.7%)

brachydactyly-arterial hypertension syndrome
----
高血圧-短指症 (HTNB)

短い中手骨 高血圧

常染色体優性遺伝

Brachydactyly - arterial hypertension is a rare genetic brachydactyly syndrome characterized by the association of brachydactyly type E with hypertension (due to vascular or neurovascular anomalies) as well as the additional features of short stature and low birth weight (compared to non-affected family members), stocky build and a round face. The onset of hypertension is often in childhood and, if untreated, most patients will have had a stroke by the age of 50.  >> 翻訳 (Google)

689
(67.7%)

talo-patello-scaphoid osteolysis
----
距骨-膝蓋骨-舟状骨融解-滑膜炎-第4中手骨短縮

短い第4中手骨 骨融解 (舟状骨)

常染色体劣性遺伝

Talo-patello-scaphoid osteolysis is an extremely rare form of primary osteolysis, described in two sisters to date, characterized by bilateral osteolysis of the tali, scaphoids, and patellae (accompanied by periarticular swelling and pain) and short fourth metacarpals (brachydactyly type E), in the absence of renal disease. Autosomal recessive inheritance has been suggested.  >> 翻訳 (Google)

689
(67.7%)

asphyxiating thoracic dystrophy 2
----
短肋骨胸郭異形成2 +/- 多指症

狭い胸郭 短い中手骨 短い足

常染色体劣性遺伝

Any Jeune syndrome in which the cause of the disease is a mutation in the IFT80 gene.  >> 翻訳 (Google)

689
(67.7%)

pseudohypoparathyroidism type 1B
----
仮性副甲状腺機能低下症, Ib 型 (PHP1B)

偽性副甲状腺機能低下症 短い中手骨

常染色体優性遺伝 孤発性

Pseudohypoparathyroidism type 1B (PHP-1b) is a type of pseudohypoparathyroidism (PHP) characterized by localized resistance to parathyroid hormone (PTH) mainly in the renal tissues which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels. About 60-70% of patients also present with elevated TSH levels due to TSH resistance.  >> 翻訳 (Google)

689
(67.7%)

split hand-foot malformation 4
----
裂手/裂足奇形4

中手骨無形成/低形成 中足骨無形成/低形成 合指趾症

常染色体優性遺伝

Any split hand-foot malformation in which the cause of the disease is a mutation in the TP63 gene.  >> 翻訳 (Google)

689
(67.7%)

proximal symphalangism 1A
----
指趾骨癒合, 近位. 1A

あぶみ骨強直 中手骨指骨癒合 短い第5中手骨

常染色体優性遺伝

689
(67.7%)

multiple epiphyseal dysplasia type 4
----
骨端異形成, 多発性, 4

大腿骨頭低形成 短い中手骨 短指症候群

常染色体劣性遺伝

Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.  >> 翻訳 (Google)

689
(67.7%)

epiphyseal dysplasia, multiple, 3
----
骨端異形成, 多発性, 3

短い中手骨 股関節異常

常染色体優性遺伝

Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A3 gene.  >> 翻訳 (Google)

689
(67.7%)

exostoses, multiple, type 2
----
外骨症, 多発性, II 型 (EXT2)

短い中手骨 肋骨外骨症

常染色体優性遺伝

This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes.  >> 翻訳 (Google)

689
(67.7%)

exostoses, multiple, type 1
----
外骨症, 多発性, I 型 (EXT1) (EXT)

短い中手骨 肋骨外骨症

常染色体優性遺伝

Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene.  >> 翻訳 (Google)