1
(95.9%)

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

小顎 尺骨低形成 橈骨低形成 眼瞼裂 非正中口唇裂

常染色体劣性遺伝

Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) 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 syndrome
----
肢端顔異骨症1, Nager 型 (AFD1)

小顎後退 橈骨低形成 母指無形成/低形成 眼瞼裂 非正中口唇裂

常染色体優性遺伝

A congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.  >> 翻訳 (Google)

3
(90.5%)

Alagille syndrome
----
Alagille 症候群 1 (AGS)

小顎 尺骨低形成 眼瞼裂斜下 短い人中 短い指末節骨

A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.  >> 翻訳 (Google)

4
(89.8%)

Syndactyly-telecanthus-anogenital and renal malformations syndrome

橈骨低形成 眼瞼裂 薄い上口唇唇紅部

X連鎖優性遺伝

This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.  >> 翻訳 (Google)

5
(89.5%)

Acrofrontofacionasal dysostosis

小肢症 幅広い母指 眼瞼裂 短い指末節骨 非正中口唇裂

常染色体劣性遺伝

A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.  >> 翻訳 (Google)

6
(88.3%)

Cenani-Lenz syndrome

乏趾症 尺骨低形成 眼瞼裂斜下 短い人中 短い母指

常染色体劣性遺伝

Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.  >> 翻訳 (Google)

7
(87.9%)

Distal trisomy 5q

小顎 尺骨低形成 母指欠損 眼瞼裂斜下 長い人中

Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).  >> 翻訳 (Google)

8
(87.8%)

Cleft lip/palate

小顎 指の重なり 潜在眼球 片側性口唇裂 短い長管骨

Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.  >> 翻訳 (Google)

9
(87.6%)

Bartsocas-Papas syndrome
----
Bartsocas-Papas 症候群

小顎 正中口唇裂 母指欠損 眼瞼裂

常染色体劣性遺伝

Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.  >> 翻訳 (Google)

9
(87.6%)

Goldenhar syndrome
----
片側顔面矮小症

上眼瞼コロボーマ 小顎 母指無形成/低形成 非正中口唇裂

常染色体優性遺伝

Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies.  >> 翻訳 (Google)

9
(87.6%)

Choanal atresia
----
後鼻孔閉鎖

下眼瞼コロボーマ 両側性口唇裂 小顎 母指欠損

Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.  >> 翻訳 (Google)

12
(87.3%)

Orofaciodigital syndrome type 10

内眼角外方偏位 小顎 短い第4指 近位橈骨低形成 長い人中

常染色体優性遺伝

Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.  >> 翻訳 (Google)

13
(86.8%)

Microtia
----
小耳症

下眼瞼コロボーマ 両側性口唇裂 小さい手 小顎後退

A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal.  >> 翻訳 (Google)

14
(86.8%)

Renal agenesis
----
腎低異形成/無形成1

大きな手 小顎後退 正中口唇裂 潜在眼球 短い第4中手骨

Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively; see these terms), accompanied by absent ureter(s).  >> 翻訳 (Google)

15
(86.4%)

Acro-renal-mandibular syndrome

小顎 尺骨低形成 橈骨低形成 眼瞼裂斜下 短い人中

常染色体劣性遺伝

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)

16
(86.1%)

Oculocerebrocutaneous syndrome
----
眼大脳皮膚症候群

口腔裂 眼瞼裂 短い指末節骨 肋骨欠損

孤発性

Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations.  >> 翻訳 (Google)

17
(85.1%)

Fanconi anemia
----
Fanconi 貧血, 相補性A群(FANCA)

内眼角贅皮 口蓋裂 小顎 尺骨低形成 指の無形成/低形成

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.  >> 翻訳 (Google)

18
(85.0%)

MOMO syndrome
----
MOMO 症候群

分厚い上口唇唇紅部 大きな手 大腿骨弯曲 眼瞼裂 短い胸骨

常染色体優性遺伝 常染色体劣性遺伝

MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) 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)

19
(84.9%)

Kabuki syndrome
----
歌舞伎症候群 1

下口唇小孔 小顎 無眼瞼 短い指中節骨

Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.  >> 翻訳 (Google)

20
(84.4%)

Jacobsen syndrome
----
Jacobsen 症候群

小顎 平坦な人中 眼瞼裂 短い趾

孤発性

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)

21
(84.2%)

W syndrome
----
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
----
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
----
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
----
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)

31
(83.2%)

17q24.2 microdeletion syndrome

上肢成長不全 小顎 眼瞼裂斜下 薄い上口唇唇紅部

32
(83.1%)

Trichorhinophalangeal syndrome type 1 and 3

小顎 疎な睫毛 短い中足骨 短い指末節骨 長い人中

Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses, as well as severe generalized shortening of all phalanges, metacarpals and metatarsal bones.  >> 翻訳 (Google)

32
(83.1%)

8q24.3 microdeletion syndrome

内眼角贅皮 小顎後退 短い大腿骨 短い第5指中節骨 薄い上口唇唇紅部

32
(83.1%)

Interatrial communication

内眼角贅皮 小顎 平坦な人中 短い母指末節骨 短い長管骨

Interauricular communication is a congenital malformation characterized by a communication between the atrial chambers of the heart.  >> 翻訳 (Google)

35
(83.1%)

CHARGE syndrome
----
CHARGE 症候群

上口唇裂 小顎 眼瞼裂 短指症候群

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)

36
(83.0%)

Intellectual disability, Wolff type

小顎後退 幅広い母指 眼瞼裂斜上 短い指末節骨 非正中口唇裂

Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.  >> 翻訳 (Google)

37
(82.8%)

3M syndrome
----
3M 症候群 1

分厚い眉毛 小肢症 尺骨低形成 長い人中

常染色体優性遺伝

A primordial growth disorder characterized by low birth weight, reduced birth length, severe postnatal growth restriction, a spectrum of minor anomalies (including facial dysmorphism) and normal intelligence.  >> 翻訳 (Google)

38
(82.6%)

Isolated split hand-split foot malformation

両側性口唇裂 小顎後退 指の重なり 眼瞼裂斜上 腓骨低形成

Split hand-split foot malformation (SHFM) refers to a spectrum of genetically and clinically heterogenous terminal limb defect (see this term) characterized by hypoplasia/ absence of central rays of the hands and feet (that can occur in one to all four digits), median clefts of the hands and/ or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/ toe to a lobster claw-like appearance of the hands and feet. SHFM can be an isolated malformation or can be a feature in various syndromes (ADULT syndrome, EEC syndrome; see these terms). SHFM usually follows an autosomal dominant pattern of inheritance with incomplete penetrance, but autosomal recessive and rarely X-linked inheritance have also been reported.  >> 翻訳 (Google)

39
(82.2%)

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

小顎 眼瞼裂斜下 短い人中 短い指末節骨 短い第1中手骨

常染色体劣性遺伝

A very rare acrofacialdyosotosis 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)

39
(82.2%)

Isolated oxycephaly

小顎 幅広い母指 平坦な人中 眼瞼裂狭小 短い指

Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull.  >> 翻訳 (Google)