1
(100.0%)

postaxial acrofacial dysostosis
----
軸後性肢端顔異骨症

上口唇裂 小顎 尺骨低形成 眼瞼裂 短い母指

常染色体劣性遺伝

Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.  >> 翻訳 (Google)

2
(94.2%)

Nager acrofacial dysostosis
----
肢端顔異骨症1, Nager 型 (AFD1)

上口唇裂 下眼瞼コロボーマ 小顎 橈骨低形成 母指無形成/低形成

常染色体優性遺伝

Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.  >> 翻訳 (Google)

3
(91.3%)

CHARGE syndrome
----
CHARGE 症候群

上口唇裂 小顎 尺骨低形成 眼瞼裂斜下 短い母指

常染色体優性遺伝 孤発性

CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).  >> 翻訳 (Google)

4
(88.1%)

Diamond-Blackfan anemia 1
----
Diamond-Blackfan 貧血 1

上口唇裂 小顎 橈骨低形成 眼瞼裂斜下 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 RPS19 gene.  >> 翻訳 (Google)

5
(87.9%)

brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
----
短指趾骨粗鬆症-多指-脛骨欠損/低形成

U字型上口唇唇紅部 内眼角贅皮 単指 小顎 尺骨低形成

常染色体優性遺伝

6
(87.6%)

Roberts-SC phocomelia syndrome
----
Roberts 症候群

上口唇裂 乏指症 小顎 眼瞼裂

常染色体劣性遺伝

A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities.  >> 翻訳 (Google)

7
(87.1%)

Fraser syndrome 1
----
Fraser 症候群1

上口唇裂 上眼瞼コロボーマ 母指無形成/低形成 胸骨無形成/低形成

常染色体劣性遺伝

8
(86.9%)

spondyloepiphyseal dysplasia with congenital joint dislocations
----
脊椎骨端異形成-先天性関節脱臼

尺骨低形成 疎な眉毛 短い指末節骨 長い人中

常染色体劣性遺伝

CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.  >> 翻訳 (Google)

9
(86.4%)

short ulna-dysmorphism-hypotonia-intellectual disability syndrome
----
精神遅滞, 常染色体劣性35

小顎 尺骨低形成 眼瞼裂斜下 薄い上口唇唇紅部

常染色体劣性遺伝

10
(85.5%)

Cornelia de Lange syndrome 1
----
Cornelia de Lange 症候群1 (CDL1)

上口唇裂 乏指症 小顎 橈骨低形成 長い睫毛

常染色体優性遺伝 孤発性

Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene.  >> 翻訳 (Google)

11
(85.5%)

SC phocomelia syndrome
----
SC アザラシ肢症候群

上口唇裂 小顎 尺骨欠損 短い母指

常染色体劣性遺伝

12
(85.1%)

Baller-Gerold syndrome
----
Baller-Gerold 症候群

内眼角贅皮 口蓋裂 小顎 尺骨低形成 母指無形成/低形成

常染色体劣性遺伝

Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).  >> 翻訳 (Google)

13
(84.7%)

MOMO syndrome
----
MOMO 症候群

大きな手 平坦な人中 眼瞼裂 短い胸骨

常染色体優性遺伝

MOMO syndrome is a very rare genetic overgrowth/obesity syndrome characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.  >> 翻訳 (Google)

14
(84.6%)

microphthalmia with cyst, bilateral facial clefts, and limb anomalies
----
嚢胞を伴う小眼球-両側性顔裂-四肢奇形

上口唇裂 幅広い指基節骨 眼瞼裂 短い足

孤発性

15
(84.2%)

ulnar hypoplasia-split foot syndrome
----
尺骨低形成-裂足

合指趾症 尺骨低形成 短い指

X連鎖劣性遺伝

Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.  >> 翻訳 (Google)

15
(84.2%)

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

尺骨低形成 手掌横線 指の全中節骨の短縮 短い足

常染色体劣性遺伝

Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of 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)

15
(84.2%)

acromesomelic dysplasia, Demirhan type
----
先端中部短縮性軟骨異形成, Demirhan 型

子宮低形成 尺骨低形成 短い指 短い趾

常染色体劣性遺伝

18
(84.0%)

Wolf-Hirschhorn syndrome
----
Wolf-Hirschhorn 症候群 (WHS)

上口唇裂 内眼角贅皮 小顎 橈尺骨癒合 短い母指

常染色体優性遺伝 孤発性

Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.  >> 翻訳 (Google)

19
(83.9%)

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
----
Helsmoortel-van der Aa 症候群

小さい手 眼瞼裂 薄い上口唇唇紅部

常染色体優性遺伝

An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13.  >> 翻訳 (Google)

20
(83.9%)

congenital disorder of glycosylation type 1E
----
先天性グリコシル化異常症 Ie 型 (CDG1E)

上肢成長不全 小顎 平坦な人中 眼瞼裂斜下 短い手掌

常染色体劣性遺伝

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.  >> 翻訳 (Google)

20
(83.9%)

chromosome 17q12 deletion syndrome
----
17q12 欠失症候群

上口唇の異常 上肢成長不全 内眼角贅皮 小顎 短い手掌

常染色体優性遺伝

17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported.  >> 翻訳 (Google)

22
(83.8%)

van den Ende-Gupta syndrome
----
Van den Ende-Gupta 症候群 (VDEGS)

上顎低形成 下口唇唇紅部外反 眼瞼裂狭小 遠位尺骨低形成

常染色体劣性遺伝

Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.  >> 翻訳 (Google)

23
(83.6%)

holoprosencephaly-radial heart renal anomalies syndrome
----
Steinfeld 症候群

二分した口蓋垂 尺骨低形成 正中口唇口蓋裂 母指無形成/低形成 肋骨欠損

常染色体優性遺伝

Holoprosencephaly-radial heart renal anomalies syndrome is characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder.  >> 翻訳 (Google)

24
(83.4%)

Beemer-Langer syndrome
----
短肋骨胸郭異形成12

内眼角贅皮 正中口唇口蓋裂 短い指 短い肋骨 短い長管骨

常染色体劣性遺伝

Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.  >> 翻訳 (Google)

25
(83.1%)

acrocraniofacial dysostosis
----
先端頭蓋顔異骨症

小顎 眼瞼裂斜下 短い人中 短い第1中手骨 短い第1中足骨

常染色体劣性遺伝

Acrocraniofacial dysostosis is a very rare form of acrofacial dyosotosis, reported in two sisters to date, characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.  >> 翻訳 (Google)

26
(82.9%)

Diamond-Blackfan anemia 11
----
Diamond-Blackfan 貧血 11

口蓋裂 尺骨低形成 橈骨低形成 母指欠損 眼瞼の異常

常染色体優性遺伝

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL26 gene.  >> 翻訳 (Google)

27
(82.9%)

Weyers ulnar ray/oligodactyly syndrome
----
Weyer 尺側乏指症候群

上口唇裂 乏指症 口蓋裂 小顎 尺骨無形成/低形成

常染色体優性遺伝

28
(82.8%)

Holt-Oram syndrome
----
Holt-Oram 症候群 (HOS1)

尺骨低形成 母指欠損 漏斗胸 短い鎖骨

常染色体優性遺伝

Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.  >> 翻訳 (Google)

29
(82.7%)

otopalatodigital syndrome type 2
----
耳-口蓋-指症候群 II 型

口蓋裂 小顎 橈側湾曲 眼瞼裂斜下 短い母指

X連鎖優性遺伝

Otopalatodigital syndrome type 2 (OPD2) is a severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.  >> 翻訳 (Google)

30
(82.3%)

Jacobsen syndrome
----
Jacobsen 症候群

U字型上口唇唇紅部 小顎 眼瞼裂 短指症候群

孤発性

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.  >> 翻訳 (Google)

31
(82.3%)

acromesomelic dysplasia, Grebe type
----
無軟骨発生症, Grebe 型

外反手 尺骨低形成 短い足 軸後性多指症

常染色体劣性遺伝

Acromesomelic dysplasia, Grebe type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism at birth, abnormalities confined to limbs, severe shortening and deformity of long bones, fusion or absence of carpal and tarsal bones, ball shaped fingers and, occasionally, polydactyly and absent joints. As seen in acromesomelic dysplasia, Hunter-Thomson type and acromesomelic dysplasia, Maroteaux Type, facial features and intelligence are normal.  >> 翻訳 (Google)

32
(82.2%)

autosomal dominant Robinow syndrome 1
----
Robinow 症候群, 常染色体優性

内眼角贅皮 小顎 幅広い母指 短い第5指中節骨 薄い上口唇唇紅部

常染色体優性遺伝

Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene.  >> 翻訳 (Google)

32
(82.2%)

autosomal recessive Robinow syndrome
----
Robinow 症候群, 常染色体劣性型

中手骨無形成/低形成 小顎 眼瞼裂斜下 短い第5指中節骨 薄い上口唇唇紅部

常染色体劣性遺伝

Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.  >> 翻訳 (Google)

34
(82.1%)

asphyxiating thoracic dystrophy 3
----
短肋骨胸郭異形成3 +/- 多指症)

上口唇裂 口蓋裂 尺骨低形成 短い肋骨

常染色体劣性遺伝 Digenic遺伝

An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.  >> 翻訳 (Google)

35
(82.1%)

cataract-intellectual disability-hypogonadism syndrome
----
Martsolf 症候群

内眼角贅皮 小顎 短い人中 短い手掌 細い尺骨

常染色体劣性遺伝

This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.  >> 翻訳 (Google)

36
(81.8%)

skeletal dysplasia and progressive central nervous system degeneration, lethal
----
骨格異形成-進行性中枢神経変性, 致死性

小顎 尺骨低形成 平坦な頬 橈骨低形成 長い人中

常染色体劣性遺伝

37
(81.8%)

3MC syndrome 1
----
3MC症候群1

上口唇裂 橈尺骨癒合 短い第5指 短い足 逆内眼角贅皮

常染色体劣性遺伝

Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene.  >> 翻訳 (Google)

38
(81.8%)

ablepharon macrostomia syndrome
----
無眼瞼-大口症候群

潜在眼球 短い上口唇 短い中手骨

常染色体優性遺伝

Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital malformations and developmental delay (in 2/3 of cases). Other reported manifestations include malar hypoplasia, absent or hypoplastic nipples, umbilical abnormalities and growth retardation. It is a mainly sporadic disorder, although a few familial cases having been reported, and it displays significant clinical overlap with Fraser syndrome.  >> 翻訳 (Google)

39
(81.8%)

Zechi-Ceide syndrome
----
Zechi-Ceide 症候群

上口唇裂 眼瞼裂狭小 短い中足骨 短い指末節骨

常染色体劣性遺伝

40
(81.7%)

Myhre syndrome
----
Myhre 症候群

下顎突出 眼瞼裂狭小 短い指 短い長管骨 薄い上口唇唇紅部

常染色体優性遺伝

Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.  >> 翻訳 (Google)

41
(81.6%)

cranioectodermal dysplasia 1
----
頭蓋外胚葉異形成

下口唇唇紅部外反 内眼角贅皮 短い指末節骨 短い肋骨 腓骨低形成

常染色体劣性遺伝

Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the IFT122 gene.  >> 翻訳 (Google)

42
(81.5%)

acrofrontofacionasal dysostosis
----
肢端前頭顔鼻異骨症1

上口唇裂 下顎突出 短い中手骨 短い指末節骨 長い睫毛

常染色体劣性遺伝

Acro-fronto-facio-nasal dysostosis is a congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.  >> 翻訳 (Google)

43
(81.5%)

X-linked lethal multiple pterygium syndrome
----
翼状片症候群, X連鎖性

上口唇裂 内眼角贅皮 小顎 短い指

X連鎖遺伝

X-linked form of lethal multiple pterygium syndrome.  >> 翻訳 (Google)

43
(81.5%)

Fryns syndrome
----
Fryns 症候群 (FRNS)

上口唇裂 小顎後退 眼瞼裂狭小 短い母指

常染色体劣性遺伝

Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.  >> 翻訳 (Google)

43
(81.5%)

branchiooculofacial syndrome
----
鰓弓-眼-顔症候群

上口唇裂 内眼角外方偏位 小顎 短い母指

常染色体優性遺伝

Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.  >> 翻訳 (Google)

46
(81.4%)

Pallister-W syndrome
----
Pallister W 症候群

尺骨低形成 眼瞼裂斜下 粘膜下硬口蓋裂

X連鎖遺伝

W syndrome is characterised by intellectual deficit, epileptic seizures and facial dysmorphism. Skeletal anomalies are also often present. To date, it has been described in six male patients. The mode of transmission appears to be X-linked dominant.  >> 翻訳 (Google)

47
(81.4%)

complex lethal osteochondrodysplasia
----
骨軟骨異形成, 複雑致死性, Symoens-Barnes-Gistelinck 型

内眼角外方偏位 小顎 橈骨骨折 片側性口唇裂 短い大腿骨

常染色体劣性遺伝

48
(81.3%)

Weaver syndrome
----
Weaver 症候群

内眼角贅皮 大きな手 短い第4中足骨 短い肋骨 長い人中

常染色体優性遺伝

Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.  >> 翻訳 (Google)

49
(81.0%)

Duane-radial ray syndrome
----
Duane-橈側指症候群 (DRRS)

内眼角贅皮 尺骨低形成 橈骨低形成 短い母指

常染色体優性遺伝

A syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disc coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.  >> 翻訳 (Google)

49
(81.0%)

Alagille syndrome due to a JAG1 point mutation
----
Alagille 症候群 1 (AGS)

三角形の顔 尺骨低形成 眼瞼裂斜上 短い指末節骨

常染色体優性遺伝

51
(81.0%)

Aarskog-Scott syndrome, X-linked
----
Aarskog-Scott 症候群

上口唇裂 歯状突起低形成 眼瞼裂斜下 短い手掌 短い第5指

X連鎖劣性遺伝

Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.  >> 翻訳 (Google)

51
(81.0%)

chromosome 1p36 deletion syndrome
----
1p36欠失症候群

11 対肋骨 上口唇裂 内眼角贅皮 短い第5指

孤発性

1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.  >> 翻訳 (Google)

53
(80.9%)

Smith-Lemli-Opitz syndrome
----
Smith-Lemli-Opitz 症候群(SLOS)

内眼角贅皮 小肢症 小顎 短い母指 長い人中

常染色体劣性遺伝

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.  >> 翻訳 (Google)

54
(80.9%)

Neu-Laxova syndrome 1
----
Neu-Laxova 症候群1

上口唇裂 小肢症 小顎 指の橈側偏位 無眼瞼

常染色体劣性遺伝

Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PHGDH gene.  >> 翻訳 (Google)

55
(80.8%)

cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies
----
口蓋裂-心奇形-精神遅滞

上口唇裂 幅広い母指 眼瞼裂斜上 短い第5指

常染色体優性遺伝

55
(80.8%)

Simpson-Golabi-Behmel syndrome type 1
----
Simpson-Golabi-Behmel 症候群 1 型 (SGBS1)

内眼角贅皮 幅広い母指 短い指末節骨 短い足 粘膜下口唇裂

X連鎖劣性遺伝

Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 gene.  >> 翻訳 (Google)

57
(80.8%)

nevoid basal cell carcinoma syndrome
----
基底細胞母斑症候群 (BCNS)

上口唇裂 眼窩嚢胞 短い母指末節骨 短い第4中手骨 短い肋骨

常染色体優性遺伝 Heterogeneous

A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.  >> 翻訳 (Google)

58
(80.8%)

phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome
----
あざらし肢-欠指-難聴-洞性不整脈

尺骨湾曲 母指無形成/低形成 眼瞼裂斜下 腓骨低形成 長い人中

常染色体優性遺伝

Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families.  >> 翻訳 (Google)

59
(80.8%)

Marshall-Smith syndrome
----
Marshall- Smith 症候群

中手骨の遠位拡大 分厚い眉毛 短い下顎枝 短い人中 短い指末節骨

常染色体優性遺伝 孤発性

Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.  >> 翻訳 (Google)

60
(80.7%)

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

小顎 眼瞼裂斜上 短い指末節骨 薄い上口唇唇紅部

X連鎖劣性遺伝

60
(80.7%)

multiple congenital anomalies-hypotonia-seizures syndrome 1
----
先天多発形-筋緊張低下-けいれん症候群1

内眼角贅皮 小顎 短い指末節骨 長い人中

常染色体劣性遺伝

Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene.  >> 翻訳 (Google)

60
(80.7%)

Cornelia de Lange syndrome 3
----
症候群3 (CDLS3)

小顎 短い第5指 薄い上口唇唇紅部 長い睫毛

常染色体優性遺伝

Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the SMC3 gene.  >> 翻訳 (Google)

60
(80.7%)

Yunis-Varon syndrome
----
Yunis-Varon 症候群

小顎 眼瞼裂斜上 短い上口唇 短い指

常染色体劣性遺伝

Yunis-Varon syndrome is a rare condition that affects many different parts of the body. Signs and symptoms are generally present from birth and may include underdeveloped or absent collarbones (clavicles); large fontanelles; characteristic facial features; hypotonia (reduced muscle tone) and/or abnormalities of the fingers and toes. Affected people may also experience feeding difficulties, breathing problems, brain malformations, heart defects, skeletal abnormalities, developmental delay, and/or intellectual disability. Yunis-Varon syndrome is caused by changes (mutations) in the FIG4 gene and isinherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.  >> 翻訳 (Google)

60
(80.7%)

chromosome 15q24 deletion syndrome
----
Witteveen-Kolk 症候群

内眼角贅皮 小顎後退 平坦な人中 短い手掌 短い母指

常染色体優性遺伝 孤発性

15q24 microdeletion syndrome is a rare chromosomal anomaly characterized cytogenetically by a 1.7-6.1 Mb deletion in chromosome 15q24 and clinically by pre- and post-natal growth retardation, intellectual disability, distinct facial features, and genital, skeletal, and digital anomalies.  >> 翻訳 (Google)

60
(80.7%)

progeroid syndrome, Petty type
----
Fontain プロゲリア様症候群

小顎 眼瞼裂斜下 短い指末節骨 薄い上口唇唇紅部

常染色体優性遺伝

Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.  >> 翻訳 (Google)

66
(80.7%)

asphyxiating thoracic dystrophy 1
----
短肋骨性胸郭異形成 1+/- 多指症

尺骨低形成 短い肋骨 腎不全

常染色体劣性遺伝

An asphyxiating thoracic dystrophy associated with variation in the region 15q13.  >> 翻訳 (Google)

67
(80.5%)

atrioventricular defect-blepharophimosis-radial and anal defect syndrome
----
心房心室中隔欠損-瞼裂狭小-橈骨欠損

小顎 尺骨低形成 幅広い鼻梁 眼瞼裂狭小 第1中手骨無形成

常染色体劣性遺伝

Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is a rare, genetic multiple congenital anomaly syndrome characterized by atrioventricular septal defects and blepharophimosis, in addition to radial (e.g. aplastic radius, shortened ulna, fifth finger clinodactyly, absent first metacarpal and thumb) and anal (e.g. imperforate or anteriorly place anus, rectovaginal fistula) defects.  >> 翻訳 (Google)

68
(80.5%)

microgastria-limb reduction defect syndrome
----
小胃症-四肢減少連合

乏指症 停留精巣 尺骨低形成

孤発性

This syndrome is characterised by the association of microgastria with a limb reduction defect.  >> 翻訳 (Google)

69
(80.5%)

Sweeney-Cox syndrome
----
Sweeney-Cox 症候群

上眼瞼コロボーマ 小顎 短い人中 長い指

常染色体優性遺伝

70
(80.5%)

acro-renal-mandibular syndrome
----
先端腎-下顎症候群

内眼角贅皮 小顎 尺骨低形成 橈骨低形成 狭い口蓋

常染色体劣性遺伝

Acro-renal-mandibular syndrome is a very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.  >> 翻訳 (Google)

71
(80.5%)

Peters plus syndrome
----
Petersプラス 症候群

上口唇裂 小顎 眼瞼裂斜上 短い中足骨 短い手掌

常染色体劣性遺伝

Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.  >> 翻訳 (Google)

72
(80.4%)

microcephaly-micromelia syndrome
----
小頭-小肢症候群

前腕成長不良 口蓋裂 小顎 橈骨欠損 短い眼瞼裂

常染色体劣性遺伝

72
(80.4%)

tarp syndrome
----
TARP 症候群 (TARPS)

口蓋裂 小顎 橈骨低形成 短い眼瞼裂

X連鎖遺伝 X連鎖劣性遺伝

TARP syndrome is a rare developmental defect during embryogenesis syndrome characterized by Robin sequence (micrognathia, glossoptosis, and cleft palate), atrial septal defect, persistence of the left superior vena cava, and talipes equinovarus. The phenotype is variable, some patients present with further dysmorphic characteristics (e.g. hypertelorism, ear abnormalities) while others do not have any key findings. Additional features, such as syndactyly, polydactyly, or brain anomalies (e.g. cerebellar hypoplasia), have also been reported. The syndrome is almost invariably lethal with affected males either dying prenatally or living just a few months.  >> 翻訳 (Google)

72
(80.4%)

Seckel syndrome 1
----
Seckel 症候群1

口蓋裂 小顎 眼瞼裂斜下 近位橈骨低形成

常染色体劣性遺伝

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

75
(80.3%)

orofaciodigital syndrome IV
----
口腔顔指趾症候群 IV 型

内眼角贅皮 口蓋裂 小顎 短い指 短い脛骨

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)

76
(80.3%)

choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
----
Burn-McKeown 症候群

上口唇裂 下眼瞼コロボーマ 小顎

常染色体劣性遺伝

Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome.  >> 翻訳 (Google)

76
(80.3%)

oculo-auriculo-vertebral spectrum
----
片側顔面矮小症

上口唇裂 上眼瞼コロボーマ 小顎

常染色体優性遺伝

78
(80.2%)

Ulbright-Hodes syndrome
----
腎異形成-四肢奇形症候群

小顎 尺骨欠損 狭い口 短い中手骨 薄い唇紅部縁

常染色体劣性遺伝

Ulbright-Hodes syndrome is characterised by renal dysplasia, growth retardation, phocomelia or mesomelia, radiohumeral fusion, rib abnormalities, anomalies of the external genitalia and a potter-like facies. The syndrome has been described in three infants (one pair of sibs and an unrelated case), all of whom died shortly after birth from respiratory distress resulting from pulmonary hypoplasia and oligohydramnios caused by renal dysplasia. The mode of transmission appears to be autosomal recessive.  >> 翻訳 (Google)

79
(80.2%)

phocomelia, Schinzel type
----
尺骨および腓骨欠損-重度四肢欠損症

乏指症 先天性鎖骨偽関節 内眼角贅皮 尺骨欠損 狭い口蓋

常染色体劣性遺伝

Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder.  >> 翻訳 (Google)

80
(80.2%)

skeletal defects, genital hypoplasia, and intellectual disability
----
骨格奇形-性器低形成-精神遅滞

尺骨低形成 母指欠損 狭い口 薄い唇紅部縁

常染色体劣性遺伝

81
(80.1%)

lethal faciocardiomelic dysplasia
----
顔心四肢異形成, 致死性

小顎 尺骨低形成 狭い口 短い第5指

常染色体劣性遺伝

Lethal faciocardiomelic dysplasia is an extremely rare polymalformative syndrome.  >> 翻訳 (Google)

82
(80.1%)

hyperphosphatasia with intellectual disability syndrome 1
----
高ホスファターゼ症-精神遅滞症候群1

上口唇裂 下顎突出 眼瞼裂斜上 短い指末節骨

常染色体劣性遺伝

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

83
(80.0%)

Temple-Baraitser syndrome
----
Temple-Baraitser 症候群

内眼角贅皮 幅広い母指 短い指末節骨 長い人中

常染色体優性遺伝

Temple-Baraitser syndrome is a rare developmental anomalies syndrome characterized by severe intellectual disability and distal hypoplasia of digits, particularly of thumbs and halluces, with nail aplasia or hypoplasia. Facial dysmorphism with a pseudo-myopathic appearance has been reported, which may include high anterior hairline or low frontal hairline with central cowlick, flat forehead, ptosis, hypertelorism, downslanting palpebral fissures, epicanthal folds, ears with thick helices, broad depressed nasal bridge with anteverted nares, short columella, long philtrum, high-arched palate, broad mouth with thick vermilion border of the upper or the lower lip and downturned corners. Marked hypotonia, seizures and global developmental delay have been reported, associated with autistic spectrum disorder manifestations in some patients.  >> 翻訳 (Google)

84
(80.0%)

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

小顎 橈骨低形成 球状の鼻 眼瞼裂狭小 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 SLX4 gene.  >> 翻訳 (Google)

85
(80.0%)

Richieri Costa-Pereira syndrome
----
Robin シークェンス-下顎裂-四肢奇形

下歯槽隆起裂 小顎後退 橈骨低形成 狭い口 短い母指

常染色体劣性遺伝

Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.  >> 翻訳 (Google)

86
(79.9%)

LADD syndrome
----
涙耳歯指趾症候群 (LADD)

Stensen 管の異常 尺骨低形成 橈骨低形成 母指基節骨欠損 眼瞼裂斜下

常染色体優性遺伝

Lacrimoauriculodentodigital (LADD) syndrome is a multiple congenital anomaly syndrome characterized by hypoplasia, aplasia or atresia of the lacrimal system; anomalies of the ears and hearing loss; hypoplasias, apalsias or atresias of the salivary glands; dental anomalies and digital malformations.  >> 翻訳 (Google)

87
(79.9%)

microphthalmia with limb anomalies
----
無眼球-四肢奇形

上口唇裂 下顎後退 乏指症 眼瞼裂斜下 腓骨低形成

常染色体劣性遺伝

Microphthalmia with limb anomalies, also known as ophthalmo-acromelic syndrome (OAS), is a rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.  >> 翻訳 (Google)

88
(79.8%)

short-rib thoracic dysplasia 7 with or without polydactyly
----
短肋骨胸郭異形成7 +/- 多指症

内眼角贅皮 口蓋裂 短い指末節骨 短い肋骨 短い長管骨

常染色体劣性遺伝

An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.  >> 翻訳 (Google)

89
(79.8%)

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

停留精巣 橈骨低形成 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 RAD51C gene.  >> 翻訳 (Google)

89
(79.8%)

IVIC syndrome
----
IVIC 症候群

手根骨低形成 橈骨低形成 直腸膣瘻 短い第1中手骨

常染色体優性遺伝

IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.  >> 翻訳 (Google)

91
(79.7%)

multiple congenital anomalies-hypotonia-seizures syndrome 3
----
多発先天奇形-筋緊張低下-けいれん症候群3

尺骨低形成 歯の異常 長い人中

常染色体劣性遺伝

Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome is a rare congenital disorder of glycosylation characterized by neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase.  >> 翻訳 (Google)

92
(79.7%)

Cohen syndrome
----
Cohen 症候群

小顎 眼瞼裂斜下 短い中手骨 短い中足骨 短い人中

常染色体劣性遺伝

Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.  >> 翻訳 (Google)

92
(79.7%)

van Maldergem syndrome 2
----
Van Maldergem 症候群2

テント状上口唇唇紅部 内眼角贅皮 小顎 短い第4中手骨 短い第4中足骨

常染色体劣性遺伝

Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene.  >> 翻訳 (Google)

92
(79.7%)

Andersen-Tawil syndrome
----
Andersen 心調律異常性周期性麻痺

眼瞼裂狭小 短い下顎枝 短い中足骨 短い手掌 薄い上口唇唇紅部

常染色体優性遺伝

Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.  >> 翻訳 (Google)

92
(79.7%)

van Maldergem syndrome 1
----
Van Maldergem 症候群 1

テント状上口唇唇紅部 内眼角贅皮 小顎 短い第4中手骨 短い第4中足骨

常染色体劣性遺伝

Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene.  >> 翻訳 (Google)

92
(79.7%)

Cri-du-chat syndrome
----
猫泣症候群

内眼角贅皮 小顎後退 短い中手骨 短い中足骨 短い人中

常染色体優性遺伝 孤発性

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.  >> 翻訳 (Google)

97
(79.7%)

Meier-Gorlin syndrome 6
----
Meier-Gorlin 症候群6

分厚い唇紅部縁 小顎後退 眼瞼裂斜下 短い指中節骨

常染色体優性遺伝

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

97
(79.7%)

Kabuki syndrome 2
----
歌舞伎症候群2

下口唇小孔 内眼角贅皮 小顎 短い第5指

X連鎖優性遺伝

99
(79.6%)

trichorhinophalangeal syndrome, type III
----
毛髪鼻指骨症候群 III 型

疎な外側眉毛 短い中足骨 短い指 短い足 薄い上口唇唇紅部

常染色体優性遺伝

A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature.  >> 翻訳 (Google)

99
(79.6%)

glycosylphosphatidylinositol biosynthesis defect 18
----
Glycosylphosphatidylinositol 生合成障害18

深い人中 短い指末節骨 短い第4中足骨 高位の弓形眉毛

常染色体劣性遺伝