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)