401
(72.1%)

rhizomelic chondrodysplasia punctata type 1
----
四肢近位短縮性点状軟骨異形成 1 型 (RCDP1)

口蓋裂 四肢近位短縮 小顎 眼瞼裂斜上

常染色体劣性遺伝

Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause.  >> 翻訳 (Google)

401
(72.1%)

desmosterolosis
----
デスモステロール症

内眼角贅皮 口蓋裂 四肢近位短縮 小顎

常染色体劣性遺伝

Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.  >> 翻訳 (Google)

403
(72.1%)

autosomal recessive spondylometaphyseal dysplasia, Megarbane type
----
脊椎骨幹端異形成, Megarbane-Dagher-Melki 型

丸い顔 小肢症 深い人中 短い肋骨 短い長管骨

常染色体劣性遺伝

Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene.  >> 翻訳 (Google)

404
(72.1%)

Cohen-Gibson syndrome
----
Cohen-Gibson 症候群

下顎後退 内眼角贅皮 大きな手 幅広い母指

常染色体優性遺伝

405
(72.0%)

MIRAGE syndrome
----
MIRAGE 症候群

反復性尿路感染症 指の重なり 橈側内反手

常染色体優性遺伝

An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy.  >> 翻訳 (Google)

406
(71.9%)

NEK9-related lethal skeletal dysplasia
----
致死性先天性関節拘縮症候群10型

小顎 指の重なり 狭い口蓋 長い人中

常染色体劣性遺伝

NEK9-related lethal skeletal dysplasia is a rare, lethal, primary bone dysplasia characterized by fetal akinesia, multiple contractures, shortening of all long bones, short, broad ribs, narrow chest and thorax, pulmonary hypoplasia and a protruding abdomen. Short bowed femurs may also be associated.  >> 翻訳 (Google)

407
(71.9%)

branchiogenic deafness syndrome
----
鰓原性難聴症候群

短い指末節骨 粘膜下硬口蓋裂 開口障害 (牙関緊急)

常染色体優性遺伝

Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.  >> 翻訳 (Google)

408
(71.9%)

Coffin-Siris syndrome 7
----
Coffin-Siris 症候群 7

三角頭蓋 眼瞼裂斜下 短指症候群 薄い上口唇唇紅部

常染色体優性遺伝

408
(71.9%)

autosomal recessive spinocerebellar ataxia 20
----
脊髄小脳失調, 常染色体劣性20

内眼角贅皮 幅広い人中 比較的大頭 短指症候群

常染色体劣性遺伝

Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene.  >> 翻訳 (Google)

410
(71.9%)

apert syndrome
----
Apert 症候群

下顎突出 口蓋裂 幅広い母指末節骨 眼瞼裂斜下 軸後性多指症

常染色体優性遺伝

Apert syndrome (AS) is a frequent form of acrocephalosyndactyly, a group of inherited congenital malformation disorders, characterized by craniosynostosis, midface hypoplasia, and finger and toe anomalies and/or syndactyly.  >> 翻訳 (Google)

411
(71.9%)

microcephaly-capillary malformation syndrome
----
小頭-毛細血管奇形症候群

上顎低形成 口蓋裂 短い指末節骨

常染色体劣性遺伝

412
(71.8%)

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

眼瞼裂斜上 短い足 薄い唇紅部縁

X連鎖劣性遺伝

X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.  >> 翻訳 (Google)

412
(71.8%)

mitochondrial DNA depletion syndrome 13
----
ミトコンドリア DNA 欠乏症候群 13 (MNGIE 型)

下口唇唇紅部外反 内眼角贅皮 短い足

常染色体劣性遺伝

Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene.  >> 翻訳 (Google)

414
(71.8%)

ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet
----
外胚葉形成不全症候群-特異顔貌-軸前性多趾症

内眼角外方偏位 小顎 第5指弯指 薄い上口唇唇紅部

孤発性

414
(71.8%)

chromosome 5q12 deletion syndrome
----
欠失症候群

小顎 長い人中 長い指 長い眼瞼裂

常染色体優性遺伝

PDE4D haploinsufficiency syndrome is a rare syndromic intellectual disability characterized by developmental delay, intellectual disability, low body mass index, long arms, fingers and toes, prominent nose and small chin.  >> 翻訳 (Google)

414
(71.8%)

ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
----
外胚葉形成不全-感音性難聴-特異顔貌

内反(眼瞼) 小顎 指の橈側偏位 短い人中

常染色体劣性遺伝

414
(71.8%)

distal arthrogryposis type 2B1
----
関節拘縮症, 遠位, 2B 型 (DA2B)

小顎 指屈曲線欠損 眼瞼裂斜下 長い人中

常染色体優性遺伝

414
(71.8%)

whistling face syndrome, recessive form
----
口笛顔貌症候群, 常劣型

内眼角贅皮 小顎 指の尺側偏位 長い人中

常染色体劣性遺伝

414
(71.8%)

McDonough syndrome
----
McDonough 症候群

小顎 指の橈側偏位 眼瞼裂斜上 短い人中

常染色体劣性遺伝

A rare, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphsim (prominent superciliary arcs, synophrys, strabismus, large, anteverted ears, large nose, malocclusion of teeth), delayed psychomotor development, intellectual disability and congenital heart defects (e.g. pulmonic stenosis, patent ductus arteriosus, atrial septal defect). Additional features include thorax deformation (pectus excavatum/carinatum), kyphoscoliosis, diastasis recti and cryptorchidism.  >> 翻訳 (Google)

414
(71.8%)

blepharophimosis - intellectual disability syndrome, Ohdo type
----
Ohdo 症候群

内眼角贅皮 小顎 平坦な人中 第5指弯指

常染色体優性遺伝

Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.  >> 翻訳 (Google)

414
(71.8%)

developmental delay, intellectual disability, obesity, and dysmorphic features
----
発達遅滞-知的障害-肥満-形態異常

先細りの指 内眼角贅皮 小顎 短い人中

常染色体優性遺伝

414
(71.8%)

arterial tortuosity syndrome
----
動脈蛇行症候群

くも指 小顎 眼瞼裂斜下 長い人中

常染色体劣性遺伝

Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.  >> 翻訳 (Google)

414
(71.8%)

mandibulofacial dysostosis-microcephaly syndrome
----
下顎顔面異骨症, Guion-Almeida 型)

内眼角贅皮 小顎 深い人中 軸前性多指症

常染色体優性遺伝

Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.  >> 翻訳 (Google)

414
(71.8%)

chromosome 2q32-q33 deletion syndrome
----
Glass 症候群

くも指 小顎 平坦な人中 眼瞼裂斜下

常染色体優性遺伝

2q32q33 microdeletion syndrome is a recently described syndrome characterized by a variable phenotype involving moderate to severe intellectual deficit, significant speech delay, persistent feeding difficulties, growth retardation and dysmorphic features.  >> 翻訳 (Google)

414
(71.8%)

chromosome 9p deletion syndrome
----
9p モノソミー症候群

先細りの指 内眼角贅皮 小顎 薄い上口唇唇紅部

常染色体優性遺伝 孤発性

Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.  >> 翻訳 (Google)

414
(71.8%)

mullerian derivatives-lymphangiectasia-polydactyly syndrome
----
ミューラー管由来器官の持続-リンパ管拡張-軸後性多指症

小顎 眼瞼裂斜下 薄い上口唇唇紅部 軸後性多指症

常染色体劣性遺伝

Mullerian derivatives-lymphangiectasia-polydactyly syndrome is characterised by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure.  >> 翻訳 (Google)

414
(71.8%)

3p- syndrome
----
3pter-p25 欠失症候群

先細りの指 内眼角贅皮 小顎 長い人中

常染色体優性遺伝

Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.  >> 翻訳 (Google)

414
(71.8%)

chromosome 19q13.11 deletion syndrome
----
19q13.11 欠失症候群

小顎 眼瞼裂狭小 短い人中 第5指弯指

常染色体優性遺伝 孤発性

The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.  >> 翻訳 (Google)

414
(71.8%)

lathosterolosis
----
ラソステロール症

内眼角贅皮 分厚い上口唇唇紅部 小顎 軸後性多指症

常染色体劣性遺伝

Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.  >> 翻訳 (Google)

414
(71.8%)

Wieacker-Wolff, X-linked recessive
----
Wieacker- Wolff 症候群

小顎 平坦な人中 眼瞼裂斜上 近位母指

X連鎖劣性遺伝

A severe X-linked recessive neurodevelopmental disorder characterized by severe contractures (arthrogryposis) and intellectual disability.  >> 翻訳 (Google)

414
(71.8%)

Miller-Dieker lissencephaly syndrome
----
Miller-Dieker 滑脳症候群

内眼角贅皮 分厚い上口唇唇紅部 小顎 第5指弯指

常染色体優性遺伝 連続遺伝子症候群

A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip.  >> 翻訳 (Google)

414
(71.8%)

distal 10q deletion syndrome
----
10q26欠失症候群

内眼角贅皮 小顎 指の橈側偏位 薄い上口唇唇紅部

常染色体優性遺伝 孤発性

Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.  >> 翻訳 (Google)

414
(71.8%)

Ehlers-Danlos syndrome, musculocontractural type 1
----
Ehlers-Danlos 症候群, 筋拘縮型 1

くも指 小顎後退 眼瞼裂斜下 薄い上口唇唇紅部

常染色体劣性遺伝

414
(71.8%)

Renpenning syndrome
----
Renpenning 症候群 1 (RENS1)

内眼角贅皮 小顎 第5指弯指 薄い上口唇唇紅部

X連鎖劣性遺伝

Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly, leanness and mild short stature.  >> 翻訳 (Google)

414
(71.8%)

oculocerebrofacial syndrome, Kaufman type
----
Kaufman 眼脳顔症候群

内眼角贅皮 小顎 第5指弯指 薄い上口唇唇紅部

常染色体劣性遺伝

414
(71.8%)

cardiofaciocutaneous syndrome 1
----
心顔皮膚症候群1

内眼角贅皮 小顎 指関節過伸展 深い人中

常染色体優性遺伝

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

437
(71.8%)

Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
----
Antley-Bixler 症候群, 性器異常またはステロイド合成障害なし

くも指 尺骨湾曲 平坦な頬 長い人中

常染色体優性遺伝

438
(71.8%)

terminal osseous dysplasia-pigmentary defects syndrome
----
肢端骨異形成-色素異常

内眼角贅皮 口蓋裂 四肢中部短縮性下肢短縮 短い趾 短指症候群

X連鎖優性遺伝

Terminal osseous dysplasia-pigmentary defects syndrome is characterised by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.  >> 翻訳 (Google)

439
(71.8%)

alpha thalassemia-X-linked intellectual disability syndrome
----
α-サラセミア/ 精神遅滞症候群, X連鎖 (ATRX)

U字型上口唇唇紅部 先細りの指 内眼角贅皮 前頭洞欠損

X連鎖優性遺伝

X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.  >> 翻訳 (Google)

440
(71.7%)

Ruvalcaba syndrome
----
Ruvalcaba 症候群

歯混雑 眼瞼裂斜下 短い中足骨 短い手掌 短い足

常染色体優性遺伝

Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.  >> 翻訳 (Google)

441
(71.7%)

Kleefstra syndrome 1
----
Kleefstra 症候群 1

U字型上口唇唇紅部 下顎突出 手掌横線 眼瞼裂斜上 短指症候群

常染色体優性遺伝 孤発性

An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of EHMT1 on chromosome 9q34.3.  >> 翻訳 (Google)

442
(71.6%)

X-linked intellectual disability with marfanoid habitus
----
X連鎖性精神遅滞-マルファン様体型

くも指 小顎 幅広い母指 薄い上口唇唇紅部 開口

X連鎖劣性遺伝

The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.  >> 翻訳 (Google)

443
(71.5%)

Nijmegen breakage syndrome
----
Nijmegen 染色体断裂症候群

上口唇裂 小顎 眼瞼裂斜上

常染色体劣性遺伝

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.  >> 翻訳 (Google)

443
(71.5%)

autosomal dominant Opitz G/BBB syndrome
----
Opitz GBBB 症候群, 常染色体優性II 型

上口唇裂 内眼角贅皮 小顎

常染色体優性遺伝

Autosomal dominant form of Opitz G/BBB syndrome.  >> 翻訳 (Google)

445
(71.4%)

chondrodysplasia with joint dislocations, gPAPP type
----
軟骨異形成-関節脱臼, GPAPP 型

口蓋裂 小顎 狭い口 短い中手骨

常染色体劣性遺伝

446
(71.4%)

metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
----
骨幹端性異骨症-精神遅滞-伝音性難聴

反復性中耳炎 手根骨低形成 短い肋骨 短い長管骨

常染色体劣性遺伝

Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.  >> 翻訳 (Google)

447
(71.3%)

spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctate calcifications, and deafness
----
脊椎巨大骨端性異形成-上肢中部短縮-点状石灰化-難聴

感音難聴 短い足 短指症候群 遠位尺骨骨端の点状石灰化

孤発性

448
(71.3%)

MMEP syndrome
----
小眼球, 症候群性8

上口唇裂 下顎突出 眼瞼裂狭小 裂足

常染色体優性遺伝

A congenital syndromic form of split-hand/foot malformation (SHFM). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.  >> 翻訳 (Google)

449
(71.3%)

fibrodysplasia ossificans progressiva
----
進行性骨化性線維異形成 (FOP)

小さい頚椎椎体骨 歯間隔離 短い第1中手骨

常染色体優性遺伝

Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.  >> 翻訳 (Google)

450
(71.3%)

microcephalic osteodysplastic dysplasia, Saul-Wilson type
----
Saul-Wilson 症候群

凸の鼻梁 小顎 短い中足骨 短い指末節骨

常染色体優性遺伝

A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1.  >> 翻訳 (Google)

451
(71.2%)

Frank-Ter Haar syndrome
----
Frank-ter Haar 症候群

小顎 幅広い口 眼瞼裂斜下 短い指骨 短い長管骨

常染色体劣性遺伝

Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.  >> 翻訳 (Google)

452
(71.2%)

external auditory canal atresia-vertical talus-hypertelorism syndrome
----
外耳道, 両側性閉鎖-先天性垂直距骨

内眼角贅皮 短い第5指

常染色体優性遺伝

452
(71.2%)

Fanconi anemia complementation group N
----
Fanconi 貧血, 相補群 N (FANCN)

内眼角贅皮 短い母指

常染色体劣性遺伝

Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene.  >> 翻訳 (Google)

452
(71.2%)

holoprosencephaly, recurrent infections, and monocytosis
----
全前脳症-反復性感染症-単球増多症

内眼角贅皮 短い指 短い趾

常染色体優性遺伝

452
(71.2%)

Borjeson-Forssman-Lehmann syndrome
----
Borjeson-Forsman-Lehman 症候群 (BFLS)

指の全中節骨の短縮 眼瞼裂狭小 短い趾 粗な顔貌

X連鎖劣性遺伝

Borjeson-Forssman-Lehmann syndrome (BFLS) is a rare X-linked obesity syndrome characterized by intellectual deficit, truncal obesity, characteristic facial features, hypogonadism, tapered fingers and short toes.  >> 翻訳 (Google)

456
(71.2%)

microcephaly-cardiac defect-lung malsegmentation syndrome
----
小頭-先天性心疾患-片側性腎無発生-低分葉肺

口蓋裂 短い指末節骨

常染色体劣性遺伝

Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.  >> 翻訳 (Google)

456
(71.2%)

Diamond-Blackfan anemia 7
----
Diamond-Blackfan 貧血 7 (DBA7)

口蓋裂 短い母指

常染色体優性遺伝

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL11 gene.  >> 翻訳 (Google)

458
(71.2%)

nasopalpebral lipoma-coloboma syndrome
----
眼瞼コロボーマ-脂肪腫症候群

上眼瞼コロボーマ 上顎低形成 幅広い額 第5指弯指

常染色体優性遺伝

Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.  >> 翻訳 (Google)

459
(71.2%)

congenital hypothalamic hamartoma syndrome
----
視床下部過誤腫

小肢症 小顎 正中口唇裂 軸後性多指症

常染色体劣性遺伝

Hypothalamic hamartomas (HH) are rare, tumor-like malformations that occur during fetal development and are present at birth. The lesions usually do not change in size or spread to other locations. Both the type and severity of symptoms vary greatly among patients with hypothalamic hamartomas. Common symptoms include frequent gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. Additional symptoms may include cognitive impairment; emotional and behavioral difficulties; and endocrine disturbances. These symptoms often start early in life but are frequently misdiagnosed. For some patients, endocrine (hormonal) disturbances such as central precocious puberty may be the only symptom. These patients can often be treated successfully with medications. For some, however, HH can be disabling. For those with HH and epilepsy, it is common for the disorder to progress and for different types of seizures to develop. The seizures associated with HH often cannot be well-controlled with the standard seizure medications. For some, additional treatment such as surgical removal, radiosurgery, or thermoablation may be indicated. Though hypothalamic hamartomas can occur in patients with certain genetic disorders (such as Pallister-Hall syndrome), the majority of cases are sporadic.  >> 翻訳 (Google)

460
(71.1%)

lethal chondrodysplasia, Seller type
----
軟骨異形成, 致死性, 長管骨彎曲と混合性骨濃度を伴う

尺骨低形成 橈骨低形成 頭蓋冠骨化欠損

常染色体劣性遺伝

461
(71.1%)

short-rib thoracic dysplasia 10 with or without polydactyly
----
短肋骨性胸郭異形成10 +/- 多指症

口腔裂 短い肋骨 短い長管骨 短指症候群

常染色体劣性遺伝

An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.  >> 翻訳 (Google)

462
(71.1%)

fountain syndrome
----
Fountain 症候群

分厚い下口唇唇紅部 幅広い指末節骨 短い手掌

常染色体劣性遺伝

Fountain syndrome is an extremely rare multi-systemic genetic disorder characterized by intellectual disability, deafness, skeletal abnormalities and coarse facial features.  >> 翻訳 (Google)

463
(71.0%)

faciocardiomelic syndrome
----
顔心四肢症候群

内眼角外方偏位 小顎 細い長管骨 長い人中

常染色体劣性遺伝

464
(71.0%)

cerebrooculofacioskeletal syndrome 1
----
脳眼顔骨格症候群1

小顎 手関節拘縮 眼瞼裂狭小 長い人中

常染色体劣性遺伝

Any COFS syndrome in which the cause of the disease is a mutation in the ERCC6 gene.  >> 翻訳 (Google)

464
(71.0%)

d-bifunctional protein deficiency
----
D-二官能性タンパク欠損症

内眼角贅皮 小顎 裂手 長い人中

常染色体劣性遺伝

D-bifunctional protein deficiency (DBP deficiency)is a genetic disorder that affects the ability of the body to effectively break down fat from our diet. It is typically characterized by hypotonia (low muscle tone) and seizures in the newborn period. Other symptoms include unusual facial features and an enlarged liver (hepatomegaly). Most babies with this condition nevergain anydevelopmental skills and do not survive past the age of 2. DBP deficiency is caused by mutations in the HSD17B4 gene and is inherited in an autosomal recessive manner. Some researchers have suggested classifying DBP deficiency into three subtypes, depending on how severely the mutation in the HSD17B4 gene affects the function of the gene and the protein that it codes for. Almost all individuals with types I, II, and III have similar signs and symptoms. A fourth subtype has additionally been proposed for individuals that have less severe symptoms. While there is no cure for DBP deficiency, treatment is focused on improving nutrition and growth, controlling symptoms, and limiting the progression of liver disease.  >> 翻訳 (Google)

466
(71.0%)

intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
----
White-Sutton 症候群

下顎突出 短い人中 短指症候群 開口

常染色体優性遺伝

Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome is a rare, genetic, syndromic intellecutal disability disorder characterized by craniofacial dysmorphism (microcephaly, hypotonic facies, strabismus, long and flat malar region, posteriorly rotated ears, flat nasal bridge with broad nasal tip, short philtrum, thin vermillion border, open mouth with down-turned corners, high arched palate, pointed chin), global developmental delay, intellectual disability and variable neurobehavioral abnormalities (autism spectrum disorder, aggressivness, self injury). Additional features include vision abnormalities and variable sensorineural hearing loss, as well as short stature, hypotonia and gastrointestinal manifestations (e.g. poor feeding, gastroesophageal reflux, constipation).  >> 翻訳 (Google)

467
(70.9%)

coxopodopatellar syndrome
----
坐骨股足膝蓋骨症候群

口蓋裂 小顎 短い大腿骨 膝蓋骨低形成

常染色体優性遺伝

Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.  >> 翻訳 (Google)

467
(70.9%)

short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis

口蓋裂 小顎後退 短い大腿骨頸部 短い長管骨

常染色体劣性遺伝

469
(70.9%)

achondrogenesis type IA
----
無軟骨発生 IA 型

上向きの鼻孔 橈骨低形成 短い肋骨

常染色体劣性遺伝

Achondrogenesis type 1A (ACG1A), a form of achondrogenesis, is a very rare, lethal skeletal dysplasia characterized by dwarfism with extremely short limbs, narrow chest, short ribs that are easily fractured, soft skull bones and distinctive histological features of the cartilage.  >> 翻訳 (Google)

470
(70.8%)

chromosome 5p13 duplication syndrome
----
染色体 5p13 重複症候群

内眼角贅皮 大きな手 短い人中 短頭

孤発性

5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).  >> 翻訳 (Google)

470
(70.8%)

CHIME syndrome
----
コロボーマ-先天性心奇形-魚鱗癬型皮膚症-精神遅滞-耳介奇形症候群

内眼角贅皮 大きな手 掌蹠過角化症 短い人中 短頭

常染色体劣性遺伝

CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy.  >> 翻訳 (Google)

472
(70.8%)

cleidorhizomelic syndrome
----
鎖骨四肢近位部短縮症候群

四肢近位短縮 短い第5指中節骨 鎖骨の異常

常染色体優性遺伝

Cleidorhizomelic syndrome is a rhizo-mesomelic dysplasia characterized by rhizomelic short stature/dwarfism in combination with lateral clavicular defects. Additional manifestations include brachydactyly with bilateral clinodactyly and hypoplastic middle phalanx of the fifth digit. X-ray demonstrated an apparent Y-shaped or bifid distal clavicle. Cleidorhizomelic syndrome has been reported in one family (mother and son) and is suspected to be transmitted in an autosomal dominant manner. There have been no further descriptions in the literature since 1988.  >> 翻訳 (Google)

473
(70.8%)

spondylometaphyseal dysplasia, Sedaghatian type
----
骨幹端軟骨異形成, Sedaghatian 型

短い指 短い肋骨 短い長管骨 落ちくぼんだ鼻梁

常染色体劣性遺伝

Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.  >> 翻訳 (Google)

474
(70.8%)

robin sequence-oligodactyly syndrome
----
Pierre Robin 症候群-乏指

乏指症 口蓋裂 小顎

常染色体優性遺伝

Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.  >> 翻訳 (Google)

475
(70.8%)

Costello syndrome
----
Costello 症候群

内眼角贅皮 分厚い下口唇唇紅部 小顎 指関節過伸展

常染色体優性遺伝 孤発性

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.  >> 翻訳 (Google)

476
(70.8%)

chromosome 4Q32.1-q32.2 triplication syndrome
----
4q32.1-q32.2 三重症候群

内眼角贅皮 小顎後退 短い人中

常染色体優性遺伝

476
(70.8%)

intellectual disability, autosomal dominant 22
----
精神遅滞, 常染色体優性22

内眼角贅皮 小顎 薄い上口唇唇紅部

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 ZBTB18 gene.  >> 翻訳 (Google)

476
(70.8%)

facial paresis, hereditary congenital, 3
----
顔面不全麻痺, 遺伝性先天性, 3

内眼角贅皮 小顎 平坦な人中

常染色体劣性遺伝

Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene.  >> 翻訳 (Google)

476
(70.8%)

blepharophimosis - intellectual disability syndrome, MKB type
----
Ohdo 症候群, X連鎖性

小顎 平坦な人中 眼瞼裂狭小

X連鎖劣性遺伝

The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.  >> 翻訳 (Google)

476
(70.8%)

chromosome 8q21.11 deletion syndrome
----
8q21.11 欠失症候群

内眼角贅皮 小顎 短い人中

常染色体優性遺伝 孤発性

8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies.  >> 翻訳 (Google)

476
(70.8%)

mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
----
下顎顔面異骨症-巨大眼裂-大口症

小顎 平坦な人中 眼瞼裂斜下

孤発性

476
(70.8%)

immunodeficiency 49
----
免疫不全49

小顎 眼瞼裂斜上 短い人中

常染色体優性遺伝

Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene.  >> 翻訳 (Google)

476
(70.8%)

pontocerebellar hypoplasia type 7
----
橋小脳低形成 7型

内眼角贅皮 分厚い上口唇唇紅部 小顎

常染色体劣性遺伝 孤発性

Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.  >> 翻訳 (Google)

476
(70.8%)

developmental and epileptic encephalopathy, 64
----
てんかん性脳症, 早期乳児性, 64

内眼角贅皮 小顎 薄い上口唇唇紅部

常染色体優性遺伝

476
(70.8%)

frontoocular syndrome
----
前頭眼症候群

内眼角贅皮 小顎 狭い人中

常染色体優性遺伝

476
(70.8%)

7q11.23 microduplication syndrome
----
Williams-Beuren 領域重複症候群

小顎 短い人中 長い睫毛

常染色体優性遺伝

7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short piltrum, thin upper lip and facial asymmetry). hypotonia, developmental coordination disordes, behavioural problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.  >> 翻訳 (Google)

476
(70.8%)

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

内眼角贅皮 小顎 短い人中

X連鎖優性遺伝

476
(70.8%)

chromosome 14q11-q22 deletion syndrome
----
14q11-q22 欠失症候群

内眼角贅皮 小顎 長い人中

孤発性

14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.  >> 翻訳 (Google)

476
(70.8%)

intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
----
精神遅滞, 常染色体優性23

小顎 眼瞼裂斜上 薄い上口唇唇紅部

常染色体優性遺伝

476
(70.8%)

syndromic X-linked intellectual disability Najm type
----
精神遅滞-小頭-橋および小脳低形成 (MICPCH)

内眼角贅皮 小顎 長い人中

X連鎖優性遺伝

Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.  >> 翻訳 (Google)

476
(70.8%)

lateral meningocele syndrome
----
外側髄膜瘤症候群

小顎 平坦な人中 眼瞼裂斜下

常染色体優性遺伝

476
(70.8%)

Potocki-Lupski syndrome
----
Potocki-Lupski 症候群 (PTLS)

小顎 平坦な人中 眼瞼裂斜下

孤発性

17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioural problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.  >> 翻訳 (Google)

476
(70.8%)

DiGeorge syndrome
----
DiGeorge 症候群 (DGS)

小顎 眼瞼裂狭小 短い人中

常染色体優性遺伝

A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.  >> 翻訳 (Google)

476
(70.8%)

Ogden syndrome
----
Ogden 症候群

内眼角贅皮 分厚い上口唇唇紅部 小顎後退

X連鎖劣性遺伝 X連鎖優性遺伝

Ogden syndrome is a rare, genetic progeroid syndrome characterized by a variable phenotype including postnatal growth delay, severe global developmental delay, hypotonia, non-specific dysmorphic facies with aged appearance and cryptorchidism, as well as cardiac arrthymias and skeletal anomalies. Patients typically present with widely opened fontanels, mainly truncal hypotonia, a waddling gait with hypertonia of the extremities, small hands and feet, broad great toes, scoliosis and redundant skin with lack of subcutaneous fat.  >> 翻訳 (Google)

476
(70.8%)

mosaic variegated aneuploidy syndrome 1
----
まだら異数性モザイク症候群 1

内眼角贅皮 小顎 長い人中

常染色体劣性遺伝

Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene.  >> 翻訳 (Google)

476
(70.8%)

Emanuel syndrome
----
Emanuel 症候群

小顎 眼瞼裂斜上 長い人中

Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.  >> 翻訳 (Google)

476
(70.8%)

autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
----
精神遅滞，常染色体優性32

内眼角贅皮 小顎後退 薄い上口唇唇紅部

常染色体優性遺伝

498
(70.7%)

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

橈骨低形成 母指欠損 顔面中部後退

常染色体劣性遺伝

499
(70.7%)

Ehlers-Danlos syndrome, spondylocheirodysplastic type
----
Ehlers-Danlos 症候群, 脊椎異形成3型

二分した口蓋垂 眼瞼裂斜下 短い中手骨

常染色体劣性遺伝

Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers.  >> 翻訳 (Google)

500
(70.7%)

radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
----
橈骨低形成-三指節母指-尿道下裂-上顎正中切歯離開

橈骨低形成 歯の正中離解

常染色体優性遺伝

Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.  >> 翻訳 (Google)