301
(73.8%)

orofaciodigital syndrome X
----
口腔顔指症候群 X

下顎後退 乏指症 内眼角外方偏位 口蓋裂

常染色体優性遺伝

Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.  >> 翻訳 (Google)

302
(73.8%)

brachydactyly-preaxial hallux varus syndrome
----
軸前性短指症-内反母趾-外転母指

ヒッチハイカー母指 短い中足骨 短い母指

常染色体優性遺伝

Preaxial brachydactyly-hallux varus syndrome is characterized the association of hallux varus with short thumbs and first toes (involving the metacarpals, metatarsals, and distal phalanges; the proximal and middle phalanges are of normal length) and abduction of the affected digits.  >> 翻訳 (Google)

302
(73.8%)

Mononen-Karnes-Senac syndrome
----
短指症, Mononen 型

短い第1中手骨 短い第1中足骨 第2指末節骨無形成 軽度の低身長

X連鎖優性遺伝

Mononen-Karnes-Senac syndrome is characterized by skeletal dysplasia associated with finger malformations (brachydactyly with short and abducted thumbs, short index fingers, and markedly short and abducted great toes), variable mild short stature, and mild bowleg with overgrowth of the fibula. It has been described in two males, their mothers, and a maternal aunt. Females are less severely affected than males. X-linked dominant inheritance is suggested.  >> 翻訳 (Google)

302
(73.8%)

Ballard syndrome
----
短指症, B/E 混合型

短い第4中足骨 短い第5指 短指症候群

常染色体優性遺伝

Ballard syndrome is characterized by hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals. In contrast to brachydactyly type E, patients with Ballard syndrome have normal stature.  >> 翻訳 (Google)

302
(73.8%)

hand-foot-genital syndrome
----
手足性器症候群

尿道索 指の全中節骨の短縮 短い第1中足骨 短い第2趾

常染色体優性遺伝

Hand-foot-genital syndrome (HFGS) is a very rare multiple congenital abnormality syndrome characterized by distal limb malformations and urogenital defects.  >> 翻訳 (Google)

306
(73.8%)

camptodactyly syndrome, Guadalajara type 1
----
屈指症候群, Guadalajara 型 I

内眼角贅皮 前頭洞欠損 狭い口 短い手掌 腓骨低形成

常染色体劣性遺伝

Camptodactyly syndrome, Guadalajara type 1 is a rare syndrome consisting of growth retardation, facial dysmorphism, camptodactyly and skeletal anomalies.  >> 翻訳 (Google)

307
(73.8%)

Baratela-Scott syndrome
----
Baratela-Scott 症候群

内眼角贅皮 口蓋裂 四肢近位短縮 短い中手骨

308
(73.7%)

craniosynostosis-intellectual disability-clefting syndrome
----
頭蓋骨癒合症-精神遅滞-裂症候群

下肢発育不全 前腕成長不良 口腔裂

常染色体劣性遺伝

A recessive syndrome characterized by craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose.  >> 翻訳 (Google)

309
(73.7%)

midline malformations, multiple, with limb abnormalities and hypopituitarism
----
正中線奇形, 多発性-四肢異常-下垂体機能低下症

上口唇裂 口蓋裂 小肢症 指の重なり

常染色体劣性遺伝

310
(73.7%)

acrofacial dysostosis Rodriguez type
----
肢端顔異骨症候群, Rodriguez 型

小顎 狭い口 短い人中 腓骨低形成

常染色体劣性遺伝

Acrofacial dysostosis Rodriguez type is a multiple malformative syndrome in which mandibulofacial dysostosis and severe limb reduction defects are associated with complex malformations of different organs and systems especially the CNS, urogenital tract, heart, and lungs. The mandibulofacial defect, characterized by extremely severe microretrognathism and cleft palate, causes death by respiratory distress. Limb reduction is severe and includes shoulder and pelvis hypoplasia, phocomelia with humerus hypoplasia, absent radius and ulna, complete absence of long bones of the legs, and various hand anomalies, predominantly preaxial reduction (absent thumbs). Other features include CNS malformations (agenesis of corpus callosum and acqueductal stenosis), lung anomalies (absent lung lobulation), complex cardiac malformations, and unicornis uterus. These infants also show facial dysmorphism and ear anomalies. The condition is a rare with an autosomal recessive mode of inheritance. The prognosis is poor and this condition leads to death in utero or shortly after birth.  >> 翻訳 (Google)

311
(73.6%)

Adams-Oliver syndrome 3
----
Adams-Oliver 症候群3

眼瞼裂狭小 短い中足骨 短い指末節骨

常染色体優性遺伝

Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the RBPJ gene.  >> 翻訳 (Google)

311
(73.6%)

brachydactyly, type A1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and intellectual disability

内眼角贅皮 短い中足骨 短い指中節骨 趾無形成/低形成

常染色体劣性遺伝

311
(73.6%)

Leri pleonosteosis
----
8q22.1 重複症候群

眼瞼裂狭小 短い中足骨 短い手掌 短い母指

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)

314
(73.6%)

mandibulofacial dysostosis with mental deficiency
----
下顎顔面異骨症-精神遅滞

下眼瞼コロボーマ 小顎 幅広い口

常染色体劣性遺伝

315
(73.6%)

chromosome 16p12.2-p11.2 deletion syndrome
----
16p12.2-p11.2 欠失症候群, 7.1- to 8.7- MB

内眼角贅皮 小顎 短指症候群 薄い上口唇唇紅部

孤発性

16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.  >> 翻訳 (Google)

315
(73.6%)

Okur-Chung neurodevelopmental syndrome
----
Okur-Chung neurodevelopmental 症候群

内眼角贅皮 小顎 短指症候群 薄い上口唇唇紅部

常染色体優性遺伝

315
(73.6%)

intellectual disability, X-linked, syndromic, 35
----
精神遅滞, X連鎖性, 症候群性, 35

内眼角贅皮 小顎後退 短指症候群 薄い上口唇唇紅部

X連鎖劣性遺伝

315
(73.6%)

Coffin-Siris syndrome 6
----
Coffin-Siris 症候群6

内眼角贅皮 小顎 短い人中 短指症候群

常染色体優性遺伝

315
(73.6%)

intellectual disability, X-linked, syndromic 33
----
精神遅滞, X連鎖性, 症候群性33

小顎後退 眼瞼裂斜下 短い指趾 薄い上口唇唇紅部

X連鎖劣性遺伝

Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the TAF1 gene.  >> 翻訳 (Google)

320
(73.6%)

atelosteogenesis type II
----
アテロオステオジェネシス II 型

口蓋裂 小肢症 小顎 短い指中節骨

常染色体劣性遺伝

Atelosteogenesis II is a lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.  >> 翻訳 (Google)

321
(73.6%)

cardiospondylocarpofacial syndrome
----
心脊椎手根骨顔症候群

内眼角外方偏位 短い足 短指症候群 長い人中

常染色体優性遺伝

Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.  >> 翻訳 (Google)

321
(73.6%)

hypertrichotic osteochondrodysplasia Cantu type
----
Cantu 症候群

内眼角贅皮 分厚い上口唇唇紅部 短い母趾

常染色体優性遺伝

Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.  >> 翻訳 (Google)

323
(73.6%)

autosomal recessive faciodigitogenital syndrome
----
顔指趾性器症候群, 常劣型

深い人中 眼瞼裂斜下 短い足 開口障害 (牙関緊急)

常染色体劣性遺伝

Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.  >> 翻訳 (Google)

324
(73.6%)

Fraser syndrome 3
----
Fraser 症候群3

凸の鼻梁 小顎 潜在眼球 短い趾

常染色体劣性遺伝

325
(73.5%)

postaxial tetramelic oligodactyly
----
軸後性乏指症, 四肢性

手掌横線 橈側湾曲 第5指趾骨の部分~完全欠損

常染色体優性遺伝

Postaxial tetramelic oligodactyly is a rare, genetic, congenital limb malformation disorder characterized by isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.  >> 翻訳 (Google)

326
(73.5%)

pelviscapular dysplasia
----
骨盤肩甲骨異形成

口蓋裂 小顎 橈骨頭脱臼 眼瞼裂狭小 腓骨無形成

常染色体劣性遺伝

Pelviscapular dysplasia (Cousin syndrome) is characterized by the association of pelviscapular dysplasia with epiphyseal abnormalities, congenital dwarfism and facial dysmorphism.  >> 翻訳 (Google)

327
(73.5%)

cleft lip/palate-intestinal malrotation-cardiopathy syndrome
----
口唇口蓋裂-特徴的顔貌-腸回転異常-致死性心奇形

上口唇裂 手形態異常 短い手掌 舌の異常

常染色体劣性遺伝

Cleft lip/palate - intestinal malrotation - cardiopathy is a multiple congenital anomaly syndrome described in 5 patients to date, characterized by flat face, hypertelorism, flat occiput, upward slanting palpebral fissures, cleft palate, micrognathia, short neck, and severe congenital heart defects which were lethal in 3 of the 5 patients reported. Malrotation of the intestine, bilateral clinodactyly, bilobed tongue, short fourth metatarsals and bifid thumbs were reported in individual cases. There have been no further descriptions in the literature since 1997.  >> 翻訳 (Google)

328
(73.4%)

moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
----
モヤモヤ病4-低身長-高ゴナドトロピン性性腺機能低下症

下顎後退 小さい手 手形態異常 長い人中

X連鎖劣性遺伝

Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.  >> 翻訳 (Google)

329
(73.4%)

chromosome 15q26-qter deletion syndrome
----
15q26-qter 欠失症候群

三角形の顔 小顎 眼瞼裂狭小 短い指中節骨

孤発性

Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.  >> 翻訳 (Google)

329
(73.4%)

short stature with microcephaly and distinctive facies
----
低身長-小頭-特異顔貌

内眼角外方偏位 小顎後退 短い指末節骨 高い額

常染色体劣性遺伝

331
(73.4%)

Pierre Robin syndrome-faciodigital anomaly syndrome
----
Pierre-Robin シークェンス-顔および指奇形

口蓋裂 小顎 短い指末節骨 舌根沈下

X連鎖遺伝

This syndrome is characterised by the association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis) with facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyperconvex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints).Growth and mental development were normal.  >> 翻訳 (Google)

331
(73.4%)

cleft palate-large ears-small head syndrome
----
Say 症候群

口蓋裂 小顎 短い指末節骨

常染色体優性遺伝

Cleft palate-large ears-small head syndrome is a rare, genetic syndrome characterized by cleft palate, large protruding ears, microcephaly and short stature (prenatal onset). Other skeletal abnormalities (delayed bone age, distally tapering fingers, hypoplastic distal phalanges, proximally placed thumbs, fifth finger clinodactyly), Pierre Robin sequence, cystic renal dysplasia, proximal renal tubular acidosis, hypospadia, cerebral anomalies on imaging (enlargement of lateral ventricles, mild cortical atrophy), seizures, hypotonia and developmental delay are also observed.  >> 翻訳 (Google)

333
(73.4%)

radial ray hypoplasia-choanal atresia syndrome
----
橈骨線低形成-後鼻孔閉鎖

後鼻孔狭窄 橈骨低形成 短い母指

常染色体優性遺伝

Radial ray hypoplasia - choanal atresia is an extremely rare syndrome characterized by radial ray hypoplasia, choanal atresia and convergent strabismus.  >> 翻訳 (Google)

333
(73.4%)

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

三角形の顔 橈骨低形成 短い第1中手骨

常染色体劣性遺伝

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

333
(73.4%)

VACTERL/vater association
----
VATER 連合

後鼻孔閉鎖 橈骨低形成 短い母指

孤発性

VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.  >> 翻訳 (Google)

336
(73.3%)

acrodysostosis 1 with or without hormone resistance
----
肢端異骨症 1 +/- ホルモン抵抗性

内眼角贅皮 椎体骨低形成 減歯症 短い中足骨 短い手掌

常染色体優性遺伝

An autosomal dominant skeletal dysplasia caused by mutation(s) in the PRKAR1A gene, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. It is characterized by short stature, brachydactyly, and characteristic facial features. Resistance to multiple hormones is a common finding.  >> 翻訳 (Google)

337
(73.3%)

Saethre-Chotzen syndrome
----
Saethre-Chotzen 症候群 (SCS)

上顎低形成 口蓋裂 橈尺骨癒合 短指症候群 鼻涙管の異常

常染色体優性遺伝

Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.  >> 翻訳 (Google)

338
(73.3%)

Fibulo-ulnar hypoplasia-renal anomalies syndrome
----
腓骨尺骨無形成または低形成-腎異常

小顎 尺骨低形成

常染色体劣性遺伝

Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.  >> 翻訳 (Google)

338
(73.3%)

Langer mesomelic dysplasia
----
Langer 四肢中部短縮性異形成

小顎 尺骨低形成 橈骨低形成

常染色体劣性遺伝

Langer mesomelic dysplasia (LMD) is characterized by severe disproportionate short stature with mesomelic and rhizomelic shortening of the upper and lower limbs.  >> 翻訳 (Google)

340
(73.1%)

short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
----
低身長, 耳管閉鎖, 下顎低形成, 骨格異常

小顎 狭い口 眼瞼裂斜下 短い上腕骨

常染色体劣性遺伝

341
(73.1%)

genitopatellar syndrome
----
性器膝蓋骨症候群

小顎 橈尺骨癒合 歯萌出遅延 眼瞼裂斜下 短指症候群

常染色体優性遺伝

Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.  >> 翻訳 (Google)

342
(73.1%)

radius, aplasia of, with cleft lip/palate
----
橈骨無形成-口唇口蓋裂

上口唇裂 口蓋裂 橈骨欠損

343
(73.1%)

midface hypoplasia, obesity, developmental delay, and neonatal hypotonia
----
顔面中部低形成-肥満-発達遅滞-新生児筋緊張低下

内眼角贅皮 分厚い下口唇唇紅部 平坦な頬 短指症候群

常染色体劣性遺伝

344
(73.0%)

odontochondrodysplasia 1
----
脊椎骨幹端異形成-象牙質形成不全

小肢症 狭い顔 短い中手骨 短い長管骨 長い人中

常染色体劣性遺伝

Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta.  >> 翻訳 (Google)

345
(73.0%)

endocrine-cerebro-osteodysplasia syndrome
----
内分泌-大脳骨異形成 (ECO)

上口唇裂 口蓋裂 小肢症 小顎 短指症候群

常染色体劣性遺伝

Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.  >> 翻訳 (Google)

346
(72.9%)

hyperphosphatasia with intellectual disability syndrome 6
----
高ホスファターゼ症-精神遅滞症候群6

四肢成長不全 幅広い口 指の全末節骨の短縮 長い眼瞼裂

常染色体劣性遺伝

Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGY gene.  >> 翻訳 (Google)

347
(72.9%)

Pallister-hall syndrome
----
Pallister-Hall 症候群

Y字型中手骨 上口唇裂 四肢中部短縮 小舌 短い第4中手骨

常染色体優性遺伝

Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.  >> 翻訳 (Google)

348
(72.9%)

Acrootoocular syndrome
----
偽性乳頭浮腫-両眼開離-瞼裂狭小-手奇形

内眼角贅皮 小顎 狭い口蓋 短い中手骨

常染色体劣性遺伝

Acro-oto-ocular syndrome is a very rare disorder associating pseudopapilledema (optic disc swelling not secondary to increased intracranial pressure), mixed hearing loss, facial dysmorphism and limb extremity anomalies.  >> 翻訳 (Google)

348
(72.9%)

C syndrome
----
C 症候群

内眼角贅皮 小顎 幅広い口 短い中手骨

常染色体優性遺伝

C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.  >> 翻訳 (Google)

350
(72.9%)

Ellis-van Creveld syndrome
----
Ellis-van Creveld 症候群(EVC)

上口唇裂 短い肋骨 短い長管骨 軸後性多指症

常染色体劣性遺伝

Ellis-van Creveld syndrome (EVC) is a skeletal and ectoderlam dysplasia characterized by a tetrad of short stature, postaxial polydactyly, ectodermal dysplasia, and congenital heart defects.  >> 翻訳 (Google)

351
(72.9%)

intellectual disability, autosomal dominant 34
----
精神遅滞, 常染色体優性34

内眼角贅皮 平坦な人中 短い足

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 COL4A3BP gene.  >> 翻訳 (Google)

352
(72.8%)

hypoparathyroidism-retardation-dysmorphism syndrome
----
副甲状腺機能低下症-遅滞-形態異常症候群 (HRD)

二分した口蓋垂 小顎 短い手掌 長い人中

常染色体劣性遺伝

Sanjad-Sakati syndrome (SSS), also known as hypoparathyroidism - intellectual disability-dysmorphism, is a rare multiple congenital anomaly syndrome, mainly occurring in the Middle East and the Arabian Gulf countries, characterized by intrauterine growth restriction at birth, microcephaly, congenital hypoparathyroidism (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency. Ocular findings (i.e. nanophthalmos, retinal vascular tortuosity and corneal opacification/clouding) and superior mesenteric artery syndrome have also been reported. Although SSS shares the same locus with the autosomal recessive form of Kenny-Caffey syndrome, the latter differs from SSS by its normal intelligence and skeletal features.  >> 翻訳 (Google)

352
(72.8%)

Cold-induced sweating syndrome 1
----
Crisponi/寒冷誘発生発汗症候群1

小顎 狭い口 短い手掌 長い人中

常染色体劣性遺伝

Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.  >> 翻訳 (Google)

352
(72.8%)

motor developmental delay due to 14q32.2 paternally expressed gene defect
----
Temple 症候群)

口蓋裂 小さい手 小顎 短い人中

常染色体優性遺伝 孤発性

A cause of obesity that results from inheritance of two copies of chromosome 14 from the mother, and no copy of chromosome 14 from the father.  >> 翻訳 (Google)

355
(72.8%)

cocoon syndrome
----
繭症候群

上肢成長不全 下顎無形成 舌挺出

常染色体劣性遺伝

Fetal encasement syndrome is a rare, lethal developmental defect during embryogenesis characterized by severe fetal malformations, including craniofacial dysmorphism (abnormal cyst in the cranial region, hypoplastic eyeballs, two orifices in the nasal region separated by a nasal septum, abnormal orifice replacing the mouth), omphalocele and immotile, hypoplastic limbs encased under an abnormal, transparent, membrane-like skin. Additional features include absence of adnexal structures of the skin on the outer aspect of the limbs, as well as underdeveloped skeletal muscles and bones. Association with tetralogy of Fallot, horse-shoe kidneys and diaphragm and lung lobulation defects is reported.  >> 翻訳 (Google)

356
(72.8%)

Phelan-McDermid syndrome
----
Phelan-McDermid 症候群

内眼角贅皮 大きな手 平坦な頬 長い人中

常染色体優性遺伝 孤発性

Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.  >> 翻訳 (Google)

357
(72.8%)

metatropic dysplasia
----
変形性異形成

比較的短い脊椎 狭い胸郭 短い指

常染色体優性遺伝

Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.  >> 翻訳 (Google)

358
(72.7%)

Desbuquois dysplasia 1
----
Desbuquois 異形成1

小顎後退 狭い口 短い中足骨 短い第1中手骨

常染色体劣性遺伝

Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene.  >> 翻訳 (Google)

359
(72.7%)

velo-facial-skeletal syndrome
----
口蓋帆顔骨格症候群

内眼角贅皮 短い手掌 短い母指 短い足 高狭口蓋

常染色体優性遺伝

Velo-facial-skeletal syndrome is a very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.  >> 翻訳 (Google)

359
(72.7%)

alopecia - contractures - dwarfism - intellectual disability syndrome
----
禿頭-関節拘縮-小人症-精神遅滞症候群

内眼角外方偏位 短い第5指中節骨 齲歯

常染色体劣性遺伝

Alopecia-contractures-dwarfism-intellectual disability syndrome (ACD syndrome) is a form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.  >> 翻訳 (Google)

359
(72.7%)

intellectual disability, X-linked 91
----
精神遅滞, X連鎖性91

内眼角贅皮 短い第5指 短い足 高口蓋

X連鎖遺伝 X連鎖優性遺伝

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ZDHHC15 gene.  >> 翻訳 (Google)

359
(72.7%)

Down syndrome
----
ダウン症候群

内眼角贅皮 巨舌 短い第5指中節骨

孤発性

Down syndrome is a chromosomal abnormality caused by the presence of a third (partial or total) copy of chromosome 21 and that is characterized by variable intellectual disability, muscular hypotonia, and joint laxity, often associated with a characteristic facial dysmorphism and various anomalies such as cardiac, gastrointestinal, or endocrine defects.  >> 翻訳 (Google)

363
(72.6%)

dyssegmental dysplasia, Rolland-Desbuquois type
----
分節異常性異形成, Rolland-Desbuquois 型

内転母指 口蓋裂 小顎 浅い眼窩 短い長管骨

常染色体劣性遺伝

364
(72.6%)

cerebrofaciothoracic dysplasia
----
頭蓋顔面形態異常-骨格奇形-精神遅滞症候群

上口唇裂 内眼角贅皮 小顎 軸後性多指症

常染色体劣性遺伝

Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.  >> 翻訳 (Google)

365
(72.6%)

frontofacionasal dysplasia
----
前頭顔鼻異形成

上口唇裂 平坦な頬 眼瞼裂 短頭

常染色体劣性遺伝

Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).  >> 翻訳 (Google)

366
(72.6%)

cranioectodermal dysplasia 3
----
頭蓋外胚葉異形成3

下口唇唇紅部外反 内眼角外方偏位 小顎 短指症候群

常染色体劣性遺伝

Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT43 gene.  >> 翻訳 (Google)

366
(72.6%)

micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
----
精神遅滞, 常染色体優性44

分厚い唇紅部縁 小顎 眼瞼裂斜下 短指症候群

常染色体優性遺伝

368
(72.5%)

Elsahy-Waters syndrome

上眼瞼コロボーマ 下口唇唇紅部外反 下顎突出 平坦な頬

An extremely rare multiple congenital anomalies/dysmorphic syndrome, described in three boys from one family, and characterized by intellectual disability, hypertelorism, broad and flat nasal bridge, maxillary hypoplasia, mandibular prognathism, bifid uvula or partial cleft palate, multiple dental cysts, Schmorl nodes, fused cervical spinous processes, pectus excavatum, and penoscrotal hypospadias. There have been no further descriptions in the literature since 1971.  >> 翻訳 (Google)

369
(72.5%)

syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
----
Wahab 症候群

合指趾症 短い中手骨 短い母指 短い足

常染色体優性遺伝

369
(72.5%)

patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
----
動脈管開存-二弁性大動脈弁-手奇形

短い指 短い第5中手骨 短い趾 短指症候群

常染色体優性遺伝

Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant.  >> 翻訳 (Google)

369
(72.5%)

brachydactyly type A1B
----
A1B型短指症 (BDA1B)

低身長 短い指中節骨 短い第5中手骨

常染色体優性遺伝 Heterogeneous

369
(72.5%)

skeletal dysplasia with delayed epiphyseal and carpal bone ossification
----
骨格異形成-骨端および手根骨骨化遅延

幅広いmiddle phalanx of finger 手根骨骨化遅延 短い指中節骨

常染色体優性遺伝

369
(72.5%)

syndactyly type 5
----
合指症 V 型

短い指末節骨 第4-第5中手骨癒合 遠位指間屈曲線欠損

常染色体優性遺伝

Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.  >> 翻訳 (Google)

369
(72.5%)

acropectorovertebral dysplasia
----
肢端胸筋脊椎骨異形成, F型

幅広い母指 短い母指 胸郭の異常

常染色体優性遺伝

Acropectorovertebral dysplasia is a skeletal dysplasia characterized by fusion of the carpal and tarsal bones, with complex anomalies of the fingers and toes (preaxial polydactyly of the hands and/or feet, syndactyly of fingers and toes, hypoplasia and dysgenesis of metatarsal bones).  >> 翻訳 (Google)

369
(72.5%)

Sillence syndrome
----
短指症-末節骨癒合症症候群

短い第1中手骨 高身長

常染色体優性遺伝

Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic.  >> 翻訳 (Google)

369
(72.5%)

synpolydactyly type 1
----
合多指症1; SPD1)

6 本の中足骨 Y字型中手骨 短い第5指中節骨

常染色体優性遺伝

Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene.  >> 翻訳 (Google)

369
(72.5%)

tarsal-carpal coalition syndrome
----
距骨 / 踵骨癒合症-低身長

短い指 短い第1中手骨 短指症候群

常染色体優性遺伝

Tarsal-carpal coalition syndrome is characterised by fusion of the carpals, tarsals, and phalanges.  >> 翻訳 (Google)

369
(72.5%)

brachydactyly type B2
----
短指症, B2 型

感音難聴 短い指末節骨 短い第1中手骨

常染色体優性遺伝

Brachydactyly type B2 is a rare, genetic congenital limb malformation disorder characterized by hypoplasia/aplasia of distal and/or middle phalanges in fingers and toes II-V (frequently severe in fingers/toes IV-V, milder in fingers/toes II-III) in association with proximal, and occasionally distal, symphalangism, fusion of carpal/tarsal bones and partial cutaneous syndactyly. Additional reported features include proximal placement of thumbs, sensorineural hearing loss and farsightedness.  >> 翻訳 (Google)

369
(72.5%)

Schmid metaphyseal chondrodysplasia
----
骨幹端軟骨異形成, Schmid 型 (MCDS)

幅広いmiddle phalanx of finger 扁平脊椎 短い指中節骨

常染色体優性遺伝

Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.  >> 翻訳 (Google)

369
(72.5%)

brachydactyly type A1A
----
短指症, A1型 (BDA1)

短い手掌 短い母指基節骨 細い中手骨 遠位指間屈曲線欠損

常染色体優性遺伝 Heterogeneous

369
(72.5%)

brachydactyly type C
----
短指症, C 型

短い指中節骨 短い第1中手骨 短指症候群

常染色体優性遺伝

382
(72.4%)

autosomal dominant Aarskog syndrome
----
Aarskog 症候群, 常染色体優性

上口唇裂 上顎低形成 手掌横線 眼瞼裂斜下 短指症候群

X連鎖遺伝 性別限定常染色体優性

383
(72.4%)

otospondylomegaepiphyseal dysplasia, autosomal recessive
----
耳脊椎巨大骨端異形成, 常染色体劣性

口蓋裂 小顎 短い手掌 短い長管骨

常染色体劣性遺伝

384
(72.4%)

oculoosteocutaneous syndrome
----
中手骨/中足骨短縮-無歯-寡毛症-類白皮症

上顎低形成 無歯 眼瞼裂斜下 短い中手骨 短い中足骨

常染色体劣性遺伝

Oculoosteocutaneous syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive.  >> 翻訳 (Google)

385
(72.3%)

amelia cleft lip palate hydrocephalus iris coloboma
----
上肢無肢症-前脳奇形-顔面裂)

両側性口唇口蓋裂 乏趾症 短い大腿骨 顔面裂

孤発性

386
(72.3%)

Stüve-Wiedemann syndrome
----
Stuve-Wiedemann 症候群 (STWS; SWS)

すぼめた口唇 小顎 短い眼瞼裂 短い脛骨

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)

387
(72.3%)

MEGF8-related Carpenter syndrome
----
Carpenter 症候群2

下顎後退 内眼角贅皮 幅広い母指 手の中節骨無形成 狭い口蓋

常染色体劣性遺伝

Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene.  >> 翻訳 (Google)

388
(72.2%)

hypoglossia-hypodactyly syndrome
----
舌低形成-指趾低形成

内眼角贅皮 小顎 無指 狭い口

常染色体優性遺伝 孤発性

Hanhart syndrome is a rare condition that primarily affects the craniofacial region and the limbs (arms and legs). People affected by this condition are often born with a short, incompletely developed tongue; absent or partially missing fingers and/or toes; abnormalities of the arms and/or legs; and an extremely small jaw. The severity of these physical abnormalities varies greatly among affected people, and children with this condition often have some, but not all, of the symptoms. The cause of Hanhart syndrome is not fully understood. Treatment depends on the signs and symptoms present in each person.  >> 翻訳 (Google)

389
(72.2%)

brachydactyly type B1
----
短指症, B1型 (BDB1)

仙骨低形成 永久歯萌出遅延 短い指中節骨 短い長管骨

常染色体優性遺伝

Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene.  >> 翻訳 (Google)

389
(72.2%)

short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
----
低身長-爪異形成-顔貌異常-寡毛症

仙骨低形成 歯の異常 短い中足骨 短い指末節骨

常染色体劣性遺伝

391
(72.2%)

oculocerebrocutaneous syndrome
----
眼大脳皮膚症候群

Dandy-Walker 奇形 先天性股関節脱臼 口蓋裂 眼瞼裂

孤発性

Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations.  >> 翻訳 (Google)

392
(72.2%)

atelosteogenesis type III
----
成長不全性骨形成症 III 型 (AO III)

ヒッチハイカー母指 口蓋裂 小顎 橈側湾曲

常染色体優性遺伝

Atelosteogenesis III (AOIII) is a skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.  >> 翻訳 (Google)

393
(72.2%)

autosomal dominant popliteal pterygium syndrome
----
膝窩翼状片症候群 (PPS)

上口唇裂 皮膚性合指症 眼瞼癒着 線維性顎癒合症

常染色体優性遺伝

Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.  >> 翻訳 (Google)

393
(72.2%)

Baraitser-Winter syndrome 1
----
Baraitser-Winter 症候群 1

上口唇裂 下顎後退 内眼角贅皮 母趾趾骨重複

常染色体優性遺伝

Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene.  >> 翻訳 (Google)

395
(72.1%)

short-rib thoracic dysplasia 20 with polydactyly
----
短肋骨性胸郭異形成 20-多指症

口蓋裂 唇裂 小顎 腓骨低形成

常染色体劣性遺伝

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by {1:Huber and Cormier-Daire, 2012} and {2:Schmidts et al., 2013}).nnThere is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, OMIM:218330).  >> 翻訳 (Google)

396
(72.1%)

ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
----
眼瞼癒着-外胚葉異常-口唇口蓋裂

上口唇裂 上顎低形成 眼瞼炎 第2-3 合趾症

常染色体優性遺伝

Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is an ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.  >> 翻訳 (Google)

397
(72.1%)

intellectual disability, X-linked 61
----
Tonne-Kalscheuer 症候群

小顎 幅広い母指 狭い口 眼瞼裂斜下 短指症候群

X連鎖遺伝 X連鎖劣性遺伝

Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the RLIM gene.  >> 翻訳 (Google)

398
(72.1%)

holoprosencephaly-postaxial polydactyly syndrome
----
偽13 トリソミー症候群

11 対肋骨 正中口唇口蓋裂 眼瞼裂斜上 軸後性多指症

常染色体劣性遺伝

Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13.  >> 翻訳 (Google)

399
(72.1%)

megalocornea-intellectual disability syndrome
----
巨大角膜-精神遅滞症候群

くも指 内眼角贅皮 外反膝 小顎 長い人中

常染色体劣性遺伝

Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.  >> 翻訳 (Google)

399
(72.1%)

fetal akinesia deformation sequence 1
----
Pena-Shokeir 症候群 I 型

内眼角外方偏位 小顎 屈指 細い長管骨 長い人中

常染色体劣性遺伝

Any fetal akinesia deformation sequence in which the cause of the disease is a mutation in the MUSK gene.  >> 翻訳 (Google)