301
(73.1%)

Dysraphism-cleft lip/palate-limb reduction defects syndrome

口蓋裂 橈骨無形成/低形成 非正中口唇裂

301
(73.1%)

Holoprosencephaly-caudal dysgenesis syndrome

橈側内反手 正中口唇裂

Holoprosencephaly-caudal dysgenesis syndrome is a central nervous system malformation syndrome characterized by holoprosencephaly with microcephaly, abnormal eye morphology (hypotelorism, cyclopia, exophthalmos), nasal anomalies (single nostril or absent nose), and cleft lip/palate, combined with signs of caudal regression (sacral agenesis, sirenomelia with absent external genitalia).  >> 翻訳 (Google)

301
(73.1%)

Pentalogy of Cantrell
----
カントレル五徴症

口蓋裂 橈骨無形成/低形成 非正中口唇裂

X連鎖遺伝

Pentalogy of Cantrell (POC) is a lethal multiple congenital anomalies syndrome, characterized by the presence of 5 major malformations: midline supraumbilical abdominal wall defect, lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. Ectopia cordis (EC) is often found in fetuses with POC.  >> 翻訳 (Google)

301
(73.1%)

VACTERL/VATER association

口蓋裂 橈骨無形成/低形成 非正中口唇裂

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)

305
(73.1%)

Platyspondylic dysplasia, Torrance type

口蓋裂 小肢症 短い指末節骨 肩甲骨低形成

常染色体優性遺伝

Platyspondylic lethal skeletal dysplasia (PLSD), Torrance type (PLSD-T) is a skeletal dysplasia characterised by severe limb shortening (short and broad long bones), platyspondyly with wafer-like vertebral bodies, short ribs with anterior cupping, severe hypoplasia of the lower ilia and radial bowing. Histological findings include slightly enlarged chondrocytes and hypercellularity. The prevalence is unknown. The disorder is transmitted as an autosomal dominant trait and is caused by mutations in the C-propeptide domain of the COL2A1 gene. Although PLSD-T is generally lethal, survival to adulthood has been reported in two families.  >> 翻訳 (Google)

306
(73.1%)

Thanatophoric dysplasia
----
タナトフォリック骨異形成症

二分した舌 小顎 眼瞼裂斜下 短い大腿骨 短指症候群

Thanatophoric dysplasia (TD) is a severe and generally lethal skeletal dysplasia presenting in the prenatal period and characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2) (see these terms), that can be differentiated from each other by femur and skull shape.  >> 翻訳 (Google)

307
(73.0%)

Thumb deformity-alopecia-pigmentation anomaly syndrome

下口唇唇紅部外反 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)

308
(73.0%)

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

四肢近位短縮 小顎 幅広い口 短い人中 短い手掌

X連鎖優性遺伝

X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.  >> 翻訳 (Google)

309
(72.9%)

Marfanoid habitus-autosomal recessive intellectual disability syndrome

くも指 幅広い人中 平坦な頬 眼瞼裂の異常 薄い中手骨皮質

常染色体劣性遺伝

Marfanoid habitus – intellectual deficit, autosomal recessive is a very rare multiple congenital anomalies syndrome described in four sibs and characterized by intellectual deficit, flat face and some skeletelal features of Marfan syndrome (see this term) such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit.  >> 翻訳 (Google)

310
(72.9%)

48,XXXY syndrome

下顎突出 内眼角贅皮 口蓋裂 橈尺骨癒合 第5指弯指

The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males.  >> 翻訳 (Google)

310
(72.9%)

49,XXXXY syndrome

下顎突出 内眼角贅皮 口蓋裂 橈尺骨癒合 第5指弯指

The 49,XXXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of three extra X chromosomes in males.  >> 翻訳 (Google)

312
(72.9%)

Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom

眼瞼裂の異常なサイズ 短い第5指 肢端四肢中部短縮 開口

312
(72.9%)

West syndrome
----
West 症候群

幅広い口 片側萎縮 短い母指 麦粒腫

A rare disorder characterized by the association of clusters of axial spasms, psychomotor retardation and an hypsarrhythmic interictal EEG pattern. It is the most frequent type of epileptic encephalopathy. It may occur in otherwise healthy infants and in those with abnormal cognitive development.  >> 翻訳 (Google)

314
(72.9%)

Oliver syndrome

下顎突出 分厚い眉毛 短い人中 短い趾

常染色体劣性遺伝

Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly, and epilepsy.  >> 翻訳 (Google)

315
(72.9%)

14q22q23 microdeletion syndrome

内眼角贅皮 口角下垂 小顎 短い手掌 短い第4中手骨

常染色体優性遺伝

14q22q23 microdeletion syndrome is a rare partial deletion of the long arm of chromosome 14 characterized by ocular anomalies (anopthalmia/microphthalmia, ptosis, hypertelorism, exophthalmos), pituitary anomalies (pituitary hypoplasia/aplasia with growth hormone deficiency and growth retardation) and hand/foot anomalies (polydactyly, short digits, pes cavus). Other clinical features may include muscular hypotonia, psychomotor development delay/intellectual disability, dysmorphic signs (facial asymmetry, microretrognathia, high-arched palate, ear anomalies), congenital genitourinary malformations, hearing impairment. Smaller 14q22 deletions may have variable expression.  >> 翻訳 (Google)

316
(72.9%)

Esophageal atresia
----
食道閉鎖

唇裂 小顎 橈骨欠損 舌根沈下

Oesophageal atresia (OA) encompasses a group of congenital anomalies with an interruption in the continuity of the oesophagus, with or without persistent communication with the trachea.  >> 翻訳 (Google)

316
(72.9%)

Dextrocardia
----
右胸心

唇裂 小顎 橈側内反手 耳介前皮膚肉柱

A rare, congenital, non-syndromic, developmental defect during embryogenesis characterized by positioning of the heart in the right hemithorax, with the base and apex of the heart pointing caudally and to the right, due to abnormalities of embryologic origin that are intrinsic to the heart itself. Situs inversus or situs solitus may be associated, with extracardiac visceral transposition anomalies usually present in the former case and additional cardiac defects (e.g. septal defects, transposition of the great arteries, double-outlet right ventricles, anomalous pulmonary venous return, tetralogy of Fallot) frequently observed in both cases.  >> 翻訳 (Google)

318
(72.9%)

Holoprosencephaly-craniosynostosis syndrome

内眼角贅皮 椎体骨低形成 短い指末節骨

Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features.  >> 翻訳 (Google)

319
(72.9%)

8q12 microduplication syndrome

内眼角贅皮 短い足 長い人中

The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly (see this term).  >> 翻訳 (Google)

320
(72.9%)

Tuberculosis
----
結核

Finger swelling 内眼角贅皮 副鼻腔炎 口唇炎 短い長管骨 (手)

Tuberculosis (TB) is a contagious-infectious disease caused mainly by Mycobacterium tuberculosis that in most individuals is usually asymptomatic but that in at risk individuals (e.g. with diabetes or with HIV infection) can cause weakness, fever, weight loss, night sweat, and respiratory anomalies such as chronic cough, chest pain, hemoptysis or respiratory insufficiency.  >> 翻訳 (Google)

321
(72.9%)

Autosomal recessive amelia

口腔裂 小顎 無肢症, 上肢 非正中口唇裂

常染色体劣性遺伝

A rare disorder characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents.  >> 翻訳 (Google)

322
(72.9%)

Stickler syndrome
----
スティックラー症候群

くも指 上口唇裂 内眼角贅皮 小顎 骨幹形態異常

Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence (see this term), bone disorders, and sensorineural deafness (10% of cases).  >> 翻訳 (Google)

323
(72.8%)

SHOX-related short stature

前腕成長不良 小顎 高口蓋

X連鎖遺伝

SHOX-related short stature is a primary bone dysplasia characterized by a height that is 2 standard deviations below the corresponding mean height for a given age, sex and population group, in the absence of obvious skeletal abnormalities and other diseases and with normal developmental milestones. Patients present normal bone age with normal limbs, shortening of the extremities (significantly lower extremities-trunk and sitting height-to-height ratios), normal hGH values, normal karyotype, and Leri-Weill dyschondrosteosis-like radiological signs (e.g. triangularization of distal radial epiphyses, pyramidalization of distal carpal row, and lucency of the distal radius on the ulnar side). Mesomelic disproportions and Madelung deformity are not apparent at a young age, but may develop later in life or never.  >> 翻訳 (Google)

324
(72.8%)

Neurofaciodigitorenal syndrome
----
神経顔指腎症候群

三指節母指 下顎突出 中手骨の異常 人中の異常 内眼角贅皮

常染色体劣性遺伝

Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.  >> 翻訳 (Google)

325
(72.8%)

ADNP syndrome

三角頭蓋 幅広い母指 眼瞼裂狭小 短指症候群 薄い上口唇唇紅部

常染色体優性遺伝

A rare syndromic intellectual disability characterized by global developmental delay, gastrointestinal problems, hypotonia, delayed speech, behavioral and sleep problems, pain insensitivity, seizures, structural brain anomalies, dysmorphic features, visual problems, early tooth eruption and autistic features.  >> 翻訳 (Google)

325
(72.8%)

Retinitis pigmentosa
----
色素性網膜炎

小頭 湾曲した上腕骨 短い人中 短指症候群 長い睫毛

常染色体優性遺伝 常染色体劣性遺伝 X連鎖劣性遺伝 ミトコンドリア遺伝

Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.  >> 翻訳 (Google)

327
(72.8%)

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

小さい手 小顎 歯の異常 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 (see this term), the latter differs from SSS by its normal intelligence and skeletal features.  >> 翻訳 (Google)

328
(72.7%)

Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome

内眼角贅皮 歯の異常 短い指末節骨

常染色体劣性遺伝

A rare disorder characterized by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive.  >> 翻訳 (Google)

328
(72.7%)

Alopecia-contractures-dwarfism-intellectual disability syndrome

歯エナメル質異常 眼瞼裂斜上 短い指中節骨

常染色体劣性遺伝

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)

330
(72.7%)

Upper limb defect-eye and ear abnormalities syndrome

内眼角贅皮 短い中手骨 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)

330
(72.7%)

Sillence syndrome

内眼角贅皮 幅広い母指 短い指中節骨

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)

332
(72.7%)

Acropectorovertebral dysplasia

口蓋裂 幅広い母指 短い指末節骨

常染色体優性遺伝

A rare 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)

332
(72.7%)

Larsen syndrome

口蓋裂 幅広い指末節骨 短い指末節骨

常染色体優性遺伝

Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.  >> 翻訳 (Google)

334
(72.6%)

Thalidomide embryopathy
----
サリドマイド感受性

尺骨無形成/低形成 慢性鼻炎 橈側内反手 母指無形成/低形成

Thalidomide embryopathy is a group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma (see these terms). Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment.  >> 翻訳 (Google)

335
(72.6%)

Distal monosomy 7q36

小顎 眼瞼裂斜上 第5指弯指 非正中口唇裂

Distal monosomy 7q36 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 7, with a highly variable phenotype typically characterized by holoprosencephaly, growth restriction, developmental delay, facial dysmorphism (facial clefts, prominent forehead, hypertelorism, low-set ears, flat and broad nasal bridge, large mouth), abnormal fingers and palm or sole creases, ocular abnormalities, and other congenital malformations (incl. genital anomalies and caudal deficiency sequence). Cardiopathies have been occasionally reported.  >> 翻訳 (Google)

335
(72.6%)

Distal monosomy 10p

小顎 眼瞼裂斜下 第5指弯指 非正中口唇裂

Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13.  >> 翻訳 (Google)

335
(72.6%)

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

小顎 疎な睫毛 第5指弯指 非正中口唇裂

常染色体優性遺伝

An ectodermal dysplasia syndrome with defining features of ankyloblepharon filiforme adnatum (AFA), ectodermal abnormalities and a cleft lip and/or palate.  >> 翻訳 (Google)

338
(72.6%)

Achondrogenesis
----
軟骨無発生症

小肢症 小顎 短い長管骨 長い人中

A rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.  >> 翻訳 (Google)

339
(72.5%)

Congenital absence/hypoplasia of fingers excluding thumb, unilateral

中手骨の異常 短い中手骨 短い母指

常染色体優性遺伝

Congenital absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.  >> 翻訳 (Google)

339
(72.5%)

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

短い第2中手骨 短い第5指中節骨 短い足

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)

339
(72.5%)

Syndactyly type 5

中手骨癒合 中足骨癒合症 短い指末節骨

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)

339
(72.5%)

Coloboma of macula-brachydactyly type B syndrome

幅広い母指 短い指末節骨 腎無発生

常染色体優性遺伝

Coloboma of macula - brachydactyly type B or Sorsby syndrome is a malformation syndrome characterized by the combination of bilateral coloboma of macula with horizontal pendular nystagmus and severe visual loss, and brachydactyly type B (see these terms). The hand and feet defects comprise shortening of the middle and terminal phalanges of the second to fifth digits, hypoplastic or absent nails (congenital anonychia; see this term), broad or bifid thumbs and halluces, syndactyly and flexion deformities of the joints of some digits. Coloboma of macula - brachydactyly type B is inherited in a dominant manner.  >> 翻訳 (Google)

339
(72.5%)

Brachydactyly type A5

中手骨の異常 幅広い母指 短い指中節骨

Brachydactyly type A5 (BDA5) is a very rare congenital malformation of the digits characterized by absence of the middle phalanges (usually of digits 2 to 5), nail dysplasia and duplicated terminal phalanx of the thumb.  >> 翻訳 (Google)

339
(72.5%)

Mesoaxial synostotic syndactyly with phalangeal reduction

中手骨癒合 合趾症 短い手掌 短い母指

常染色体劣性遺伝

Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.  >> 翻訳 (Google)

339
(72.5%)

Acromesomelic dysplasia, Hunter-Thompson type
----
四肢先端中部短縮性異形成, Hunter-Thompson 型

短い母指 短指症候群 立方体型中手骨 肢端四肢中部短縮

常染色体劣性遺伝

A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.  >> 翻訳 (Google)

346
(72.4%)

Pentasomy X

小さい手 小顎 幅広い鼻梁 橈尺骨癒合 眼瞼裂斜上

Pentasomy X is a sex chromosome anomaly caused by the presence of three extra X chromosomes in females (49,XXXXX instead of 46,XX).  >> 翻訳 (Google)

347
(72.4%)

Brachydactyly-preaxial hallux varus syndrome

分厚い眉毛 口蓋の異常 小顎 短い中手骨 短い中足骨

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)

348
(72.4%)

Hydrolethalus

口蓋裂 小顎 幅広い母指 片側性口唇裂 軸後性多指症

Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.  >> 翻訳 (Google)

349
(72.4%)

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

尺骨低形成 橈骨低形成 高い額

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)

349
(72.4%)

Léri-Weill dyschondrosteosis

小肢症 尺骨低形成 幅広い鼻梁 橈骨低形成

常染色体優性遺伝

A rare skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.  >> 翻訳 (Google)

351
(72.3%)

Charlie M syndrome
----
Charlie M 症候群

中手骨の異常 小顎 狭い口 短指症候群 非正中口唇裂

Charlie M syndrome is a rare bone developmental disorder which belongs to a group of oromandibular limb hypogenesis syndromes that includes hypoglossia-hypodactyly and glossopalatine ankylosis (see these terms). The major anomalies which occur commonly in this group are hypoplasia of the mandible, syndactyly and ectrodactyly, small mouth, cleft palate, hypodontia, and facial paralysis. Patients with Charlie M syndrome also present with hypertelorism, absent or conically crowned incisors, and variable degrees of hypodactyly of the hands and feet. There have been no further descriptions in the literature since 1976.  >> 翻訳 (Google)

352
(72.3%)

Orofaciodigital syndrome type 4

小肢症 小顎 正中口唇裂 脛骨無形成/低形成 舌の異常

常染色体劣性遺伝

Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.  >> 翻訳 (Google)

353
(72.2%)

Intellectual disability-polydactyly-uncombable hair syndrome

口蓋の異常 小顎 指の無形成/低形成 眼瞼裂斜上

Intellectual disability-polydactyly-uncombable hair syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, postaxial polydactyly, phalangeal hypoplasia, 2-3 toe syndactyly, uncombable hair and facial dysmorphism (including frontal bossing, hypotelorism, narrow palpebral fissures, nasal bridge and lips, prominent nasal root, large abnormal ears with prominent antihelix, poorly folded helix, underdeveloped lobule and antitragus, and micrognathia evolving into prognatism). Cryptorchidism, conductive hearing loss and progressive thoracic kyphosis were also reported.  >> 翻訳 (Google)

354
(72.2%)

Primary pulmonary hypoplasia

内眼角贅皮 口蓋裂 小顎 膝蓋骨低形成

常染色体劣性遺伝

Primary pulmonary hypoplasia is a rare, isolated, genetic developmental defect during embryogenesis characterized by congenital malformation of pulmonary parenchyma with absence of other anomalies. Neonatally patients present with decreased breath sounds, small lung volume and severe respiratory distress that is not responsive to aggressive treatment (including surfactant instillation/ mechanical respiratory support). It is usually not compatible with life.  >> 翻訳 (Google)

354
(72.2%)

Mosaic trisomy 8

口蓋裂 小顎 眼瞼裂狭小 膝蓋骨無形成無形成

Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.  >> 翻訳 (Google)

356
(72.2%)

Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia

下顎突出 短い人中 趾の末節骨無形成/低形成 高位の弓形眉毛

Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia is characterised by severe intellectual deficit, epilepsy, hypoplasia of the terminal phalanges, and an anteriorly displaced anus. It has been described in two sisters born to consanguineous parents. The syndrome is transmitted as an autosomal recessive trait and appears to be caused by anomalies in to chromosome regions, one localised to chromosome 1 and the other to chromosome 14.  >> 翻訳 (Google)

357
(72.2%)

Van der Woude syndrome

上口唇裂 側頭骨下顎関節強直 内眼角贅皮 合指趾症

Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.  >> 翻訳 (Google)

358
(72.1%)

Microbrachycephaly-ptosis-cleft lip syndrome

下顎突出 平坦な頬 片側性口唇裂 短い手掌

常染色体劣性遺伝

Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.  >> 翻訳 (Google)

359
(72.1%)

Rubinstein-Taybi syndrome
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ルビンシュタイン・テイビ症候群

内眼角贅皮 小顎 幅広い母指 歯の異常 短指症候群

A rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioural characteristics.  >> 翻訳 (Google)

359
(72.1%)

Situs inversus totalis

小顎 幅広い母指 無舌 眼瞼裂狭小 短指症候群

常染色体優性遺伝 常染色体劣性遺伝

A rare, genetic, developmental defect during embryogenesis characterized by total mirror-image transposition of both thoracic and abdominal viscera across the left-right axis of the body. Congenital abnormalities, such as primary ciliary dyskinesia, Kartagener type, polysplenia syndrome, biliary atresia, congenital heart disease, and midgut malrotation, as well as vascular anomalies (e.g. absence of retrohepatic inferior vena cava, preduodenal portal vein, aberrant hepatic arterial anatomy) and malignancy, are frequently associated.  >> 翻訳 (Google)