200
(76.5%)

craniosynostosis-intellectual disability syndrome of 51N and Gettig
----
頭蓋骨癒合症-精神遅滞症候群（Lin and Gettig)

内眼角贅皮 小顎 平坦な人中 握り手

常染色体劣性遺伝

202
(76.4%)

nail-patella syndrome
----
爪膝蓋骨症候群 (NPS; NPS1)

上口唇裂 口蓋裂 第1肋骨低形成 膝蓋骨低形成 長い橈骨

常染色体優性遺伝

Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.  >> 翻訳 (Google)

203
(76.4%)

Gillessen-Kaesbach-Nishimura syndrome
----
Gillessen-Kaesbach-Nishimura 症候群

内眼角贅皮 小顎 平坦な人中 手の尺側偏位 短い長管骨

常染色体劣性遺伝

204
(76.3%)

autosomal recessive multiple pterygium syndrome
----
多発性翼状片症候群, Escobar バリアント

内眼角贅皮 小顎 橈骨頭脱臼 膝蓋骨無形成無形成 長い人中

常染色体劣性遺伝

A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant.  >> 翻訳 (Google)

205
(76.3%)

Coffin-Lowry syndrome
----
Coffin-Lowry 症候群 (CLS)

下口唇唇紅部外反 下顎突出 眼瞼裂斜下 短い中手骨

X連鎖優性遺伝 孤発性

Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.  >> 翻訳 (Google)

206
(76.3%)

Meier-Gorlin syndrome 1
----
Meier-Gorlin 症候群 1

分厚い下口唇唇紅部 小顎 短い手掌 長い睫毛

常染色体劣性遺伝 Heterogeneous

Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC1 gene.  >> 翻訳 (Google)

207
(76.2%)

microphthalmia with brain and digit anomalies
----
小眼球症, 症候群性 6

口蓋裂 小顎 眼窩嚢胞 短い指中節骨

常染色体優性遺伝

Microphthalmia with brain and digit anomalies is characterised by anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies. It has been described in two families. Polydactyly may also be present. Linkage analysis allowed identification of mutations in the BMP4 gene, which has already been shown to play a role in eye development.  >> 翻訳 (Google)

208
(76.2%)

pseudoachondroplasia
----
偽軟骨無形成

不規則な尺骨骨幹端 感覚ニューロパチー 歯状突起低形成 短い指末節骨

常染色体優性遺伝

Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.  >> 翻訳 (Google)

209
(76.2%)

temtamy preaxial brachydactyly syndrome
----
Temtamy 軸前性短指症候群

橈尺骨癒合 深い人中 短い中手骨 連続眉毛

常染色体劣性遺伝

An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene.  >> 翻訳 (Google)

210
(76.2%)

camptodactyly syndrome, Guadalajara type 2
----
屈指症候群, Guadalajara 型 II

小顎 短い指中節骨 長い人中

常染色体劣性遺伝

Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.  >> 翻訳 (Google)

211
(76.2%)

cat-eye syndrome

口蓋裂 小顎 橈骨欠損 眼瞼裂斜下

常染色体優性遺伝

Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.  >> 翻訳 (Google)

212
(76.2%)

metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
----
骨幹端異形成-上顎骨低形成-短指症

上顎低形成 短い人中 短い第5中手骨 短い第5指中節骨 薄い唇紅部縁

常染色体優性遺伝

Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome is characterized by metaphyseal dysplasia associated with short stature and facial dysmorphism (a beaked nose, short philtrum, thin lips, maxillary hypoplasia, dystrophic yellowish teeth) and acral anomalies (short fifth metacarpals and/or short middle phalanges of fingers two and five). It has been described in several members spanning four generations of a French-Canadian family. The syndrome is likely to be transmitted as an autosomal dominant trait.  >> 翻訳 (Google)

213
(76.1%)

midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
----
顔面中部低形成-難聴-楕円赤血球-腎石灰症

小顎 幅広い指末節骨 眼瞼裂斜下 第5指弯指 薄い上口唇唇紅部

X連鎖劣性遺伝

214
(76.1%)

odonto-tricho-ungual-digito-palmar syndrome
----
歯-毛-爪-指趾-手掌症候群

下顎突出 分厚い唇紅部縁 短い指末節骨 短い第1中足骨

常染色体優性遺伝

Odonto-tricho-ungual-digito-palmar syndrome is characterised by neonatal teeth, trichodystrophy and malformations of the hands and feet. To date, it has been reported in 21 patients and is transmitted as an autosomal dominant trait.  >> 翻訳 (Google)

215
(76.1%)

ventriculomegaly with defects of the radius and kidney
----
脳室拡大-橈骨奇形-腎奇形

前腕成長不良 尿管重複 橈骨欠損 母指欠損

常染色体劣性遺伝

216
(76.1%)

campomelic dysplasia
----
湾曲肢異形成(CMD1; CMPD1)

口蓋裂 小顎 眼瞼裂狭小 腓骨低形成 趾の全趾骨の短縮

常染色体優性遺伝

Campomelic dysplasia is a very rare disorder characterised by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).  >> 翻訳 (Google)

217
(76.0%)

van Bogaert-Hozay syndrome
----
Van Bogaert-Hozay 症候群

小顎 歯不正配列 遠位尺骨低形成

常染色体劣性遺伝

218
(75.9%)

Wiedemann-Rautenstrauch syndrome
----
Wiedemann-Rautenstrauch 症候群

大きな手 小顎 狭い口 眼瞼裂斜下 短い大腿骨

常染色体劣性遺伝

Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.  >> 翻訳 (Google)

219
(75.9%)

Juberg-Hayward syndrome
----
口唇口蓋裂-母指異常-小頭

上口唇裂 橈骨頭の異常 母指無形成/低形成 高位の弓形眉毛

常染色体劣性遺伝

Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.  >> 翻訳 (Google)

220
(75.9%)

intellectual disability, autosomal dominant 1
----
精神遅滞, 常染色体優性 1

分厚い眉毛 小さい手 小顎 薄い上口唇唇紅部

常染色体優性遺伝

An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures.  >> 翻訳 (Google)

221
(75.9%)

brachymesomelia-renal syndrome
----
四肢中部短縮-腎症候群

小顎 橈骨低形成 眼瞼裂狭小

孤発性

222
(75.9%)

progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
----
精神遅滞, 常染色体劣性48

下顎突出 小さい手 眼瞼裂狭小 長い人中

常染色体劣性遺伝

222
(75.9%)

Prader-Willi syndrome due to point mutation
----
Shaaf-Yang 症候群

下顎後退 人中の異常 小さい手 短い眼瞼裂

常染色体優性遺伝

222
(75.9%)

Hennekam lymphangiectasia-lymphedema syndrome 1
----
Hennekam リンパ管拡張症-リンパ浮腫症候群1

下顎後退 内眼角贅皮 平坦な人中 短い手掌

常染色体劣性遺伝

Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene.  >> 翻訳 (Google)

225
(75.8%)

Goldberg-Shprintzen megacolon syndrome
----
Goldberg-Shprintzen 症候群 (GOSHS)

上顎低形成 小さい手 眼瞼裂斜下 短い人中

常染色体劣性遺伝

Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.  >> 翻訳 (Google)

225
(75.8%)

subaortic stenosis-short stature syndrome
----
大動脈弁下狭窄-低身長症候群

上顎低形成 内眼角贅皮 短い上口唇 短い手掌

常染色体劣性遺伝

227
(75.8%)

Melnick-Needles syndrome
----
Melnick-Needles 症候群

口蓋裂 小顎 短い上腕骨 短い指末節骨

X連鎖優性遺伝

Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.  >> 翻訳 (Google)

228
(75.7%)

Kabuki syndrome 1
----
歌舞伎症候群 1

口蓋裂 短い第5指 長い眼瞼裂

常染色体優性遺伝

229
(75.7%)

temtamy syndrome
----
Temtamy 症候群

小顎 眼瞼裂斜下 短い第2趾 短指症候群 長い人中

常染色体劣性遺伝

Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.  >> 翻訳 (Google)

230
(75.7%)

Ehlers-Danlos syndrome, dermatosparaxis type
----
Ehlers-Danlos 症候群, 皮膚脆弱型

下口唇唇紅部外反 内眼角贅皮 小肢症 小顎 短い趾

常染色体劣性遺伝

A form of Ehlers-Danlos syndrome (EDS) characterized by extreme skin fragility and laxity, a prominent facial gestalt, excessive bruising and, sometimes, major complications due to visceral and vascular fragility.  >> 翻訳 (Google)

231
(75.6%)

constriction rings syndrome
----
絞扼輪, 先天性

上口唇裂 多指症 眼瞼裂 脳瘤

孤発性

Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.  >> 翻訳 (Google)

232
(75.5%)

rapadilino syndrome
----
RAPADILINO 症候群

口蓋裂 橈骨無形成/低形成 母指欠損 眼瞼裂狭小 膝蓋骨無形成/低形成

常染色体劣性遺伝

RAPADILINO syndrome is a syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.  >> 翻訳 (Google)

233
(75.5%)

cranioectodermal dysplasia 4
----
頭蓋外胚葉異形成 4

幅広い指末節骨 平坦な人中 短い指末節骨 薄い唇紅部縁

常染色体劣性遺伝

234
(75.4%)

neuropathy, congenital hypomyelinating, 3
----
ニューロパチー, 先天性ミエリン形成不全性, 3

内眼角贅皮 分厚い唇紅部縁 小顎 握り手

常染色体劣性遺伝

235
(75.3%)

metaphyseal acroscyphodysplasia
----
骨幹端先端杯状異形成

内眼角贅皮 平坦な頬 歯状突起低形成 短い上腕骨 短い指

常染色体劣性遺伝

Metaphyseal acroscyphodysplasia is an extremely rare form of metaphyseal dysplasia characterized by the distinctive radiological sign of cone-shaped upper tibial and lower femoral epiphyses embedded in large cup-shaped metaphyses, associated with short stature and micromelia. Upper limb involvement includes brachydactyly and phalangeal and metacarpal cone-shaped epiphyses. The association of metaphyseal acroscyphodysplasia with psychomotor delay and alopecia has also been reported in some cases.  >> 翻訳 (Google)

236
(75.3%)

diastrophic dysplasia
----
変形性異形成 (DD; DTD)

口蓋裂 短い指 短い長管骨 頚椎低形成

常染色体劣性遺伝

Diastrophic dwarfism is a rare disorder marked by short stature with short extremities (final adult height is 120cm +/- 10cm), and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips).  >> 翻訳 (Google)

237
(75.3%)

cerebrooculofacioskeletal syndrome 4
----
脳眼顔骨格症候群4 (COFS4)

内転母指 小顎 橈骨頭脱臼 眼瞼裂狭小 短い人中

常染色体劣性遺伝

Any COFS syndrome in which the cause of the disease is a mutation in the ERCC1 gene.  >> 翻訳 (Google)

237
(75.3%)

acroosteolysis dominant type
----
Hajdu-Cheney 症候群

内眼角贅皮 小顎 指骨の骨融解病変 橈骨頭脱臼 長い人中

常染色体優性遺伝

Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.  >> 翻訳 (Google)

239
(75.2%)

GMS syndrome
----
GMS 症候群

内眼角贅皮 短い人中 短い手掌

常染色体優性遺伝

GMS syndrome describes an extremely rare syndrome involving goniodysgenesis, intellectual disability and short stature in addition to microcephaly, short nose, small hands and ears, and that has been seen in one family to date. There have been no further descriptions in the literature since 1992.  >> 翻訳 (Google)

239
(75.2%)

hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, intellectual disability, and recurrent inflammatory episodes
----
両眼隔離と他の顔貌異常-短指-性器異常-精神遅滞-反復性炎症エピソード

小さい手 眼瞼裂斜上 薄い上口唇唇紅部

常染色体劣性遺伝

239
(75.2%)

hypertelorism, Teebi type
----
両眼隔離, Teebi 型

小さい手 眼瞼裂斜下 長い人中

常染色体優性遺伝

Teebi type hypertelorism is a rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes.  >> 翻訳 (Google)

239
(75.2%)

intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
----
知的発達障害-顔貌異常-行動異常

小さい手 眼瞼裂斜下 短い足 長い人中

常染色体優性遺伝

239
(75.2%)

Al Kaissi syndrome
----
Al Kaissi 症候群

内眼角贅皮 小さい手 薄い上口唇唇紅部

常染色体劣性遺伝

Al Kaissi syndrome is an autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability (summary by {1:Windpassinger et al., 2017}).  >> 翻訳 (Google)

239
(75.2%)

ZTTK syndrome
----
ZTTK 症候群

小さい手 眼瞼裂斜下 短い足 薄い上口唇唇紅部

常染色体優性遺伝

239
(75.2%)

intellectual disability, X-linked 99, syndromic, female-restricted
----
精神遅滞, X連鎖性99, 症候群性, 女性限定

小さい手 平坦な人中 短い眼瞼裂 短い足

X連鎖優性遺伝

Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the USP9X gene.  >> 翻訳 (Google)

239
(75.2%)

Prader-Willi syndrome
----
Prader-Willi 症候群

眼瞼裂斜上 短い手掌 短い足 薄い上口唇唇紅部

常染色体優性遺伝 孤発性

Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems.  >> 翻訳 (Google)

247
(75.1%)

combined immunodeficiency with faciooculoskeletal anomalies
----
Roifman-Chitayat 症候群

涙管狭窄 短い中手骨 短い中足骨 薄い下口唇唇紅部

常染色体劣性遺伝

Combined immunodeficiency with faciooculoskeletal anomalies is an extremely rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia).  >> 翻訳 (Google)

248
(75.1%)

short-rib thoracic dysplasia 16 with or without polydactyly
----
短肋骨性胸郭異形成 16 +/- 多指症

内眼角外方偏位 四肢成長不全 短い中足骨 短い指末節骨 齲歯

常染色体劣性遺伝

249
(75.0%)

spondylometaphyseal dysplasia, Schmidt type
----
脊椎骨幹端異形成, Algerian 型

手根骨低形成 近位橈骨低形成 近視

常染色体優性遺伝

Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.  >> 翻訳 (Google)

250
(75.0%)

3MC syndrome 2
----
3MC 症候群 2 (3MC2)

上口唇裂 前上顎突出 橈尺骨癒合 眼瞼裂斜下

常染色体劣性遺伝

Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene.  >> 翻訳 (Google)

251
(75.0%)

Mobius syndrome
----
Moebius 症候群

中手骨無形成/低形成 内眼角贅皮 小顎 握り手 歯の異常

常染色体優性遺伝 孤発性

Moebius syndrome is a very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.  >> 翻訳 (Google)

252
(74.9%)

Smith-Magenis syndrome
----
Smith-Magenis 症候群

上口唇唇紅部外反 下顎突出 前腕の異常 短い手掌 連続眉毛

常染色体優性遺伝 孤発性

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.  >> 翻訳 (Google)

253
(74.9%)

paternal uniparental disomy of chromosome 14
----
Kagami-Ogata 症候群

四肢成長不全 小顎 眼瞼裂狭小 長い人中 長い指

常染色体優性遺伝 孤発性

254
(74.9%)

Pfeiffer syndrome
----
Pfeiffer 症候群

下顎突出 幅広い母指 指の全中節骨の短縮 眼瞼裂斜下 高口蓋

常染色体優性遺伝

Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.  >> 翻訳 (Google)

255
(74.8%)

kapur-Toriello syndrome
----
Kapur-Toriello 症候群

上口唇裂 口蓋裂 短い母指

常染色体劣性遺伝

Kapur-Toriello syndrome is an extremely rare syndrome characterized by facial dysmorphism, severe intellectual deficiency, cardiac and intestinal anomalies, and growth retardation.  >> 翻訳 (Google)

256
(74.8%)

microcephalic primordial dwarfism, Toriello type
----
小頭性原発性小人症, Toriello 型

小顎 歯エナメル質低形成 眼瞼裂斜下 短い手掌 短い指中節骨

常染色体劣性遺伝

Microcephalic primordial dwarfism, Toriello type is characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.  >> 翻訳 (Google)

257
(74.8%)

metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
----
色素性網膜炎+/-骨格奇形

小顎 眼瞼裂斜下 短い中手骨 短い指末節骨 鼻翼未発達

常染色体劣性遺伝

258
(74.8%)

cleidocranial dysplasia
----
鎖骨頭蓋骨異形成

口蓋裂 小顎 短い第5指中節骨 長い第２中手骨

常染色体優性遺伝

Cleidocranial dysplasia (CCD) is a condition that primarily affects the development of the bones and teeth. Characteristic features include underdeveloped or absent collarbones (clavicles); dental abnormalities; and delayed closing of the spaces between the skull bones (fontanels). Other features may include decreased bone density (osteopenia), osteoporosis, hearing loss, bone abnormalities of the hands, and recurrent sinus and ear infections. CCD is caused by changes (mutations) in the RUNX2 gene and inheritance is autosomal dominant. It may be inherited from an affected parent or occur due to a new mutation in the RUNX2 gene. Management may include dental procedures, treatment of sinus and ear infections, use of helmets for high-risk activities, and/or surgery for skeletal problems.  >> 翻訳 (Google)

259
(74.7%)

absent tibia-polydactyly-arachnoid cyst syndrome
----
脛骨欠損または低形成-多指症-小脳後部クモ膜嚢胞-その他の奇形

上口唇裂 橈側湾曲 脛骨無形成/低形成

常染色体劣性遺伝

Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia.  >> 翻訳 (Google)

260
(74.7%)

mesomelia-synostoses syndrome
----
四肢中部短縮-骨癒合症候群

口蓋垂欠損 小顎後退 眼瞼裂斜下 短い足 進行性前腕湾曲

常染色体優性遺伝

Mesomelia-Synostoses syndrome (MSS) is a syndromal osteochondrodysplasia due to a contiguous gene deletion syndrome, characterized by progressive bowing of forearms and forelegs leading to mesomelia, progressive intracarpal or intratarsal bone fusion and fusion of metacarpal bones with proximal phalanges, ptosis, hypertelorism, abnormal soft palate, congenital heart defect, and ureteral anomalies.  >> 翻訳 (Google)

261
(74.7%)

Dyggve-Melchior-Clausen syndrome, X-linked
----
Dyggve-Mechior-Clausen 症候群, X連鎖性

仙骨低形成 手根骨低形成 粗な顔貌 遠位尺骨低形成

X連鎖劣性遺伝

X-linked form of Dyggve-Melchior-Clausen disease.  >> 翻訳 (Google)

262
(74.7%)

intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
----
知的発達障害-顔貌異常-けいれん-遠位四肢奇形

下顎後退 先細りの指 幅広い母指 眼瞼裂斜下 薄い上口唇唇紅部

常染色体劣性遺伝

IDDFSDA is an autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. There is phenotypic variability. The most severely affected patients have a neurodevelopmental disorder with microcephaly, absent speech, and inability to walk, and they require feeding tubes. Some patients have congenital heart defects or nonspecific abnormalities on brain imaging. Less severely affected individuals have mild to moderate intellectual disability with normal speech and motor development (summary by {1:Santiago-Sim et al., 2017}).  >> 翻訳 (Google)

263
(74.7%)

Feingold syndrome type 1
----
Feingold 症候群 1

下口唇唇紅部外反 内眼角贅皮 小顎 短い趾

常染色体優性遺伝

Feingold syndrome type 1 (FS1) is a rare inherited malformation syndrome characterized by microcephaly, short stature and numerous digital anomalies.  >> 翻訳 (Google)

264
(74.7%)

short-rib thoracic dysplasia 6 with or without polydactyly
----
短肋骨胸郭異形成6 +/- 多指症

正中口唇裂 短い肋骨 短指症候群 脛骨の不均衡性短縮

常染色体劣性遺伝 Digenic遺伝

A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia.  >> 翻訳 (Google)

265
(74.7%)

opsismodysplasia
----
骨成熟遅延性異形成

椎体骨低形成 短い手掌 短い長管骨 長い人中

常染色体劣性遺伝

Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.  >> 翻訳 (Google)

265
(74.7%)

fibrochondrogenesis 1
----
線維軟骨形成症1

狭い口 短い手掌 短い肋骨 短い長管骨 長い人中

常染色体劣性遺伝

Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene.  >> 翻訳 (Google)

267
(74.6%)

short stature-optic atrophy-Pelger-HuC+t anomaly syndrome
----
低身長-視神経萎縮-Pelger-Huet 奇形

内眼角贅皮 小肢症 短指症候群 長い人中

常染色体劣性遺伝

268
(74.6%)

Leri-Weill dyschondrosteosis
----
Leri-Weill 異軟骨骨症 (LWD)

尺骨低形成 短い第4中手骨 短い趾 高口蓋

常染色体優性遺伝

LC)ri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity.  >> 翻訳 (Google)

269
(74.5%)

skin creases, congenital symmetric circumferential, 2
----
皮膚の溝, 先天性対称性円周性, 2

内眼角贅皮 口蓋裂 小顎 短い手掌

常染色体優性遺伝

269
(74.5%)

Toriello-Carey syndrome
----
脳梁欠損-顔面奇形-Robin シークェンス

内眼角外方偏位 口蓋裂 小顎 短い手掌

常染色体劣性遺伝

Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.  >> 翻訳 (Google)

271
(74.5%)

microcephaly, short stature, and limb abnormalities
----
小頭-低身長-四肢異常

凸の鼻梁 橈骨低形成 眼瞼裂斜上 短い中手骨

常染色体劣性遺伝

272
(74.4%)

microcephalic osteodysplastic primordial dwarfism type I
----
小頭性骨異形成性原発性小人症 I

大きな手 小顎 疎な睫毛 短い大腿骨 額傾斜

常染色体劣性遺伝

A microcephalic osteodysplastic primordial dwarfism that has material basis in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA (snRNA) component of the U12-dependent (minor) spliceosome, on chromosome 2q14.2. It is characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular, auditory sensory deficits.  >> 翻訳 (Google)

273
(74.4%)

orofaciodigital syndrome I
----
口顔指症候群1 (OFD1)

内眼角贅皮 小顎後退 正中口唇裂 短指症候群

X連鎖優性遺伝

Oral-facial-digital syndrome type 1 (OFD1) is a rare neurodevelopmental disorder in the ciliopathy group that is lethal in males and characterized by variable anomalies including external malformations (craniofacial and digital), and possible involvement of the central nervous system (CNS) and of viscera (kidneys, pancreas and ovaries) in females.  >> 翻訳 (Google)

273
(74.4%)

acrocallosal syndrome
----
肢端脳梁症候群 (ACLS)

上口唇裂 内眼角贅皮 小顎後退 短指症候群

常染色体劣性遺伝 Heterogeneous

Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.  >> 翻訳 (Google)

275
(74.4%)

Pelger-Huet anomaly
----
Pelger-Huet 奇形

上肢成長不全 正中口蓋裂 歯の異常 短い第3中手骨

常染色体優性遺伝

An autosomal dominant inherited condition caused by mutations in the lamin B receptor gene. It is characterized by defects in the neutrophil lobulation, resulting in the presence of dumbbell-shaped neutrophils with bilobed nuclei in the peripheral blood smear.  >> 翻訳 (Google)

276
(74.4%)

frontorhiny
----
前頭鼻異形成1

内眼角贅皮 前頭洞低形成 正中口唇裂 短指症候群

常染色体劣性遺伝 孤発性

Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed.  >> 翻訳 (Google)

277
(74.4%)

Larsen-like syndrome, B3GAT3 type
----
多発性関節脱臼-低身長-頭蓋顔面形態異常-先天性心奇形

へら状母指 口蓋裂 小顎後退 橈尺骨癒合 眼瞼裂斜下

常染色体劣性遺伝

Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.  >> 翻訳 (Google)

278
(74.3%)

postaxial polydactyly-dental and vertebral anomalies syndrome
----
多指症, 軸後性-歯および脊椎奇形 (Rogers 1977)

二分した口蓋垂 内眼角贅皮 椎体骨低形成 短い指中節骨

常染色体劣性遺伝

Postaxial polydactyly-dental and vertebral anomalies syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by postaxial polydactyly and other abnormalities of the hands and feet (e.g. brachydactyly, broad toes), hypoplasia and fusion of the vertebral bodies, as well as dental abnormalities (fused teeth, macrodontia, hypodontia, short roots). There have been no further descriptions in the literature since 1977.  >> 翻訳 (Google)

278
(74.3%)

Wolcott-Rallison syndrome
----
骨端異形成, 多発性-早期発症糖尿病

手根骨低形成 指の全中節骨の短縮 歯状突起低形成 眼瞼裂斜上 高口蓋

常染色体劣性遺伝

Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.  >> 翻訳 (Google)

280
(74.2%)

Muenke syndrome
----
Muenke 症候群

幅広い母指 眼瞼裂斜下 短い指中節骨 短い趾中節骨 高口蓋

常染色体優性遺伝

Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.  >> 翻訳 (Google)

281
(74.2%)

Schinzel-Giedion syndrome
----
Schinzel-Giedion 顔面中部後退症候群

巨舌 浅い眼窩 短い指末節骨 短い第1中手骨 短い胸骨

常染色体優性遺伝

Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.  >> 翻訳 (Google)

282
(74.1%)

intellectual disability-balding-patella luxation-acromicria syndrome
----
Scholte 症候群

下口唇唇紅部外反 内眼角贅皮 小さい手 短い足

X連鎖劣性遺伝

Intellectual disability-balding-patella luxation-acromicria syndrome is characterised by severe intellectual deficit, patella luxations, acromicria, hypogonadism, facial dysmorphism (including midface hypoplasia and premature frontotemporal balding). It has been described in three unrelated males.  >> 翻訳 (Google)

282
(74.1%)

Atkin-Flaitz syndrome
----
X連鎖性精神遅滞, Atkin 型

分厚い下口唇唇紅部 眼瞼裂斜下 短い手掌

X連鎖劣性遺伝 X連鎖優性遺伝

Atkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short stature, macrocephaly, and characteristic facies. It has been described in 11 males and three females from three successive generations of the same family. The males also presented with postpubertal macroorchidism. Transmission is X-linked.  >> 翻訳 (Google)

282
(74.1%)

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

内眼角贅皮 分厚い下口唇唇紅部 手根骨低形成

常染色体劣性遺伝

Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.  >> 翻訳 (Google)

285
(74.1%)

histidinuria due to a renal tubular defect
----
腎細尿管異常によるヒスチジン尿

短い指中節骨 薄い上口唇唇紅部

常染色体劣性遺伝

285
(74.1%)

Thai symphalangism syndrome
----
タイ指趾関節癒合症候群

幅広い人中 短い指 短い趾 高口蓋

孤発性

285
(74.1%)

8q24.3 microdeletion syndrome
----
Verheij 症候群

短い第5指 薄い上口唇唇紅部

常染色体優性遺伝

285
(74.1%)

3M syndrome 2
----
3M 症候群 2

短い第5指 長い人中 高口蓋

常染色体劣性遺伝

Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene.  >> 翻訳 (Google)

285
(74.1%)

Keutel syndrome
----
Keutel 症候群

平坦な頬 深い人中 短い母指

常染色体劣性遺伝

Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.  >> 翻訳 (Google)

285
(74.1%)

DOORS syndrome
----
難聴-爪ジストロフィー-骨ジストロフィー-精神遅滞-けいれん症候群)

短い指末節骨 長い人中 高口蓋

常染色体劣性遺伝

DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures. Isolated seizure disorders and isolated hearing loss have also been reported in individuals as a proposed spectrum of DOORS syndrome.  >> 翻訳 (Google)

291
(74.0%)

mesomelic dwarfism of hypoplastic tibia and radius type
----
四肢中部短縮小人症, 脛骨および橈骨低形成型 (Leroy 型)

橈骨低形成

常染色体優性遺伝

291
(74.0%)

dyschondrosteosis-nephritis syndrome
----
異軟骨骨症-腎炎

短い前腕 短い脛骨 腎炎

常染色体優性遺伝

Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity, with hereditary nephritis.  >> 翻訳 (Google)

293
(74.0%)

Meier-Gorlin syndrome 3
----
Meier-Gorlin 症候群 3

分厚い下口唇唇紅部 小顎後退 眼瞼裂斜下 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 ORC6 gene.  >> 翻訳 (Google)

294
(74.0%)

multiple synostoses syndrome 1
----
多発性骨癒合症候群1 (SYNS1)

分厚い上口唇唇紅部 短い上腕骨 短い胸骨

常染色体優性遺伝

Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG gene.  >> 翻訳 (Google)

294
(74.0%)

occipital horn syndrome
----
後頭角症候群

短い上腕骨 短い鎖骨 長い人中 高口蓋

X連鎖劣性遺伝

Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.  >> 翻訳 (Google)

296
(74.0%)

Williams syndrome
----
Williams-Beuren 症候群

内眼角贅皮 平坦な頬 橈尺骨癒合 第5指弯指 長い人中

常染色体優性遺伝

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)  >> 翻訳 (Google)

297
(73.9%)

thrombocytopenia-absent radius syndrome
----
血小板減少-橈骨欠損症候群

小顎 尺骨無形成/低形成 平坦な頬 手根骨低形成

常染色体劣性遺伝

Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.  >> 翻訳 (Google)

298
(73.9%)

lethal osteosclerotic bone dysplasia
----
Raine 症候群

口蓋裂 小肢症 小顎 眼瞼裂斜下 短指症候群

常染色体劣性遺伝

Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.  >> 翻訳 (Google)

299
(73.9%)

ulnar/fibula ray defect-brachydactyly syndrome
----
尺骨/腓骨線欠損と短指症

平坦な頬 片側性尺骨低形成 腓骨低形成 軸後性乏指趾症

常染色体優性遺伝

Ulnar/fibula ray defect - brachydactyly syndrome is a very rare malformation syndrome characterized by ulnar hypoplasia associated with hypoplastic to absent fourth and/or fifth digits, fibular hypoplasia, short stature and facial dysmorphism.  >> 翻訳 (Google)

300
(73.9%)

X-linked intellectual disability-hypotonic face syndrome
----
精神遅滞-筋緊張低下顔貌症候群, X連鎖性, 1

内眼角贅皮 外反膝 小顎 短い上口唇 短指症候群

X連鎖劣性遺伝

Mental retardation-hypotonic facies covers a group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features.  >> 翻訳 (Google)