21
(84.2%)

W syndrome
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Pallister W 症候群

上口唇小孔 尺骨低形成 眼瞼裂斜下

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)

22
(84.2%)

Omphalocele
----
臍帯ヘルニア

小顎 橈骨欠損 潜在眼球 短い大腿骨 長い人中

Omphalocele is an embryopathy classified in the group of abdominal celosomias and is characterized by a large hernia of the abdominal wall, centered on the umbilical cord, in which the protruding viscera are protected by a sac.  >> 翻訳 (Google)

23
(84.2%)

Brachydactyly type A1
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短指症, A1型 (BDA1)

尺骨低形成 短い指中節骨 短い足 短指症候群

Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges.  >> 翻訳 (Google)

24
(83.9%)

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

上口唇裂 内眼角贅皮 小顎 短い母指 短い長管骨

常染色体優性遺伝 孤発性

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)

25
(83.9%)

Branchioskeletogenital syndrome
----
Elsahy-Waters 症候群

上肢奇肢症 下顎突出 眼瞼裂 短い人中

常染色体劣性遺伝

Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.  >> 翻訳 (Google)

26
(83.9%)

Atelosteogenesis type II
----
アテロオステオジェネシス II 型

上肢成長不全 内眼角贅皮 小顎 短い中手骨 薄い上口唇唇紅部

常染色体劣性遺伝

A rare, lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.  >> 翻訳 (Google)

27
(83.7%)

Duane retraction syndrome
----
デュアン眼球後退症候群

下口唇唇紅部外反 小顎 橈骨低形成 母指無形成/低形成 逆内眼角贅皮

A congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia.  >> 翻訳 (Google)

28
(83.6%)

Holoprosencephaly-radial heart renal anomalies syndrome

尺骨低形成 正中口唇裂 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)

29
(83.2%)

Mycophenolate mofetil embryopathy

口腔裂 小顎 眼瞼裂 短い手掌

Mycophenolate mofetil (MMF) embryopathy is a malformative syndrome due to the teratogenic effect of MMF, an effective immunosuppressive agent widely used for the prevention of organ rejection after organ transplantation.  >> 翻訳 (Google)

30
(83.2%)

Cornelia de Lange syndrome
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コルネリア・デ・ランゲ症候群

小顎 橈尺骨癒合 眼瞼炎 短い第1中手骨 長い人中

Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.).  >> 翻訳 (Google)