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)

39
(82.2%)

Yunis-Varon syndrome

小顎 眼瞼裂斜上 短い上口唇 短い指中節骨 第1中手骨無形成

常染色体劣性遺伝

42
(82.1%)

Polysyndactyly
----
多合指症

内眼角贅皮 口唇小孔 小顎 短い母指 腓骨低形成

常染色体優性遺伝

Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.  >> 翻訳 (Google)

43
(82.1%)

Gorlin-Chaudhry-Moss syndrome
----
Fontain プロゲリア様症候群

上眼瞼コロボーマ 上顎低形成 歯の異常 短い指末節骨

Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.  >> 翻訳 (Google)

44
(82.1%)

IVIC syndrome
----
IVIC 症候群

橈骨低形成 直腸膣瘻 短い母指 鎖骨無形成

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)

45
(82.0%)

Otomandibular syndrome
----
片側顔面矮小症

上眼瞼コロボーマ 唇裂 小顎 片側萎縮

A rare, otomandibular dysplasia characterized by asymmetric, predominantly unilateral hypoplasia of facial structures, typically involving the external ear, mandible, and ipsilateral facial soft tissues. It manifests with mild to severe facial asymmetry, micrognathia, microtia, slanted lip commissure and occlusal canting.  >> 翻訳 (Google)

46
(81.9%)

Progressive non-infectious anterior vertebral fusion

大きな手 小顎 眼瞼裂斜下 短い人中 近位橈骨-尺骨癒合

Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features.  >> 翻訳 (Google)

47
(81.8%)

Wiedemann-Rautenstrauch syndrome
----
Wiedemann-Rautenstrauch 症候群

大きな手 小顎 眼瞼裂斜上 短い大腿骨 薄い上口唇唇紅部

常染色体劣性遺伝

Wiedemann-Rautenstrauch syndrome is a very rare disorder with features of premature aging recognizable at birth, decreased subcutaneous fat, hypotrichosis, relative macrocephaly and dysmorphism.  >> 翻訳 (Google)

48
(81.8%)

Fraser syndrome
----
Fraser 症候群1

上口唇裂 慢性副鼻腔炎 潜在眼球 短指症候群

A rare clinical entity including as main characteristics cryptophthalmos and syndactyly.  >> 翻訳 (Google)

49
(81.7%)

Oculodentodigital dysplasia
----
眼歯指趾異形成 (ODDD)

小顎 正中口唇裂 潜在眼球 短い母趾 短指症候群

常染色体優性遺伝

Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.  >> 翻訳 (Google)

50
(81.6%)

Tessier number 7 facial cleft

小顎後退 平坦な人中 指の重なり 無眼瞼

51
(81.6%)

Occipital horn syndrome
----
後頭角症候群

変形した橈骨 眼瞼裂斜下 短い手掌 鎖骨無形成 長い人中

X連鎖劣性遺伝

Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.  >> 翻訳 (Google)

52
(81.6%)

Schinzel-Giedion syndrome

小顎 橈尺骨癒合 浅い眼窩 短い人中 短い指末節骨

常染色体優性遺伝

Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.  >> 翻訳 (Google)

53
(81.5%)

Simpson-Golabi-Behmel syndrome
----
シンプソン・ゴラビ・ベーメル症候群

上口唇裂 下顎突出 内眼角贅皮 幅広い母指 短い第2指

Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.  >> 翻訳 (Google)

54
(81.5%)

Distal monosomy 12q

小顎 正中口唇裂 眼瞼裂斜下 短い指中節骨

55
(81.3%)

Thrombocytopenia-absent radius syndrome
----
血小板減少-橈骨欠損症候群

両側性口唇裂 口蓋裂 小顎 尺骨無形成/低形成 橈骨欠損

常染色体劣性遺伝

Thrombocytopenia-absent radius (TAR) syndrome is a very rare congenital malformation syndrome characterized by bilateral radial aplasia and thrombocytopenia.  >> 翻訳 (Google)

56
(81.3%)

Microphthalmia with limb anomalies

上口唇裂 乏指症 小顎 眼瞼裂狭小 短い長管骨

常染色体劣性遺伝

A rare developmental disorder characterized by bilateral microphthalmia or anophthalmia, synostosis, syndactyly, oligodactyly and/or polydactyly.  >> 翻訳 (Google)

56
(81.3%)

Orofaciodigital syndrome type 2

内眼角外方偏位 小顎 正中口唇裂 無指 短い 脛骨

常染色体劣性遺伝

Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.  >> 翻訳 (Google)

56
(81.3%)

Hydrops fetalis
----
胎児水腫

Narrow palpebral fissure 両側性口唇裂 小顎 母指欠損 短い長管骨

Hydrops fetalis is a severe and challenging fetal condition usually defined as the excessive accumulation of fetal fluid within the fetal extravascular compartments and body cavities that manifests as edema, pleural and pericardial effusion and ascites. It is the end-stage of a wide variety of disorders. The cause may be immunologic (immune hydrops fetalis, IHF) or non immunologic (non-immune hydrops fetalis, NIHF), depending on the presence or absence of maternal antibodies against fetal red cell antigens (ABO incompatibility or rhesus (Rh) incompatibility).  >> 翻訳 (Google)

59
(81.3%)

Ulbright-Hodes syndrome

小顎 尺骨無形成/低形成 狭い口 短い中手骨 長い上口唇

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)

60
(81.2%)

Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome

尺骨低形成 母指無形成/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)

61
(81.0%)

X small rings

上肢成長不全 下肢発育不全 内眼角贅皮 薄い上口唇唇紅部

X small rings is a rare chromosome X structural anomaly, with highly variable phenotype, principally characterized by developmental delay, intellectual disability, short stature, craniofacial dysmorphism (incl. microcephaly, facial asymmetry, hypertelorism, long palpebral fissures, epicanthus, low-set or malrotated ears, broad nose with a flat nasal bridge, anteverted nares, long philtrum, thin upper lip, high arched palate, micrognathia) and skeletal anomalies (e.g. cubitus valgus, talipes equinovarus). Patients may also present heart malformations (e.g. ventricular septal defects, mitral valve stenosis), sacral dimple, soft tissue syndactyly, pigmented nevi, and seizures.  >> 翻訳 (Google)

62
(81.0%)

Roberts syndrome
----
Roberts 症候群

上口唇裂 口蓋裂 小顎 橈骨低形成 母指無形成/低形成

常染色体劣性遺伝

Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.  >> 翻訳 (Google)

63
(81.0%)

Acro-renal-ocular syndrome

内眼角贅皮 尺骨低形成 短い母指末節骨

A rare syndrome of multiple congenital anomalies characterized by radial ray malformations, renal abnormalities (mild malrotation, ectopia, horseshoe kidney, renal hypoplasia, vesico-ureteral reflux, bladder diverticula), and ophthalmological abnormalities (mainly colobomas, but also microphthalmia, ptosis, and Duane anomaly). The phenotype overlaps with other SALL4>/i> related disorders including Okihiro syndrome and Holt-Oram syndrome.  >> 翻訳 (Google)

64
(81.0%)

Juberg-Hayward syndrome
----
口唇口蓋裂-母指異常-小頭

口腔裂 橈骨低形成 眉毛の異常 短い母指

常染色体優性遺伝 常染色体劣性遺伝

Juberg-Hayward syndrome is a polymalformative syndrome that associates multiple skeletal anomalies with microcephaly, facial dysmorphism, urogenital anomalies and intellectual deficit.  >> 翻訳 (Google)

65
(80.8%)

Weaver syndrome
----
Weaver 症候群

大きな手 小顎 幅広い母指 眼瞼裂斜下 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)

66
(80.7%)

Distal monosomy 15q

小顎 眼瞼裂狭小 短い指 薄い上口唇唇紅部

孤発性

Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.  >> 翻訳 (Google)

66
(80.7%)

Non-distal monosomy 20q

内眼角贅皮 小顎後退 短い第5指中節骨 薄い上口唇唇紅部

66
(80.7%)

Coffin-Siris syndrome
----
コフィン・シリス症候群

内眼角贅皮 小顎 短い人中 短い指末節骨

Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.  >> 翻訳 (Google)

66
(80.7%)

Acroosteolysis dominant type

小顎 眼瞼裂斜下 短い指末節骨 長い人中

常染色体優性遺伝

A rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.  >> 翻訳 (Google)

70
(80.7%)

Keipert syndrome
----
鼻指聴覚症候群

上顎低形成 内眼角贅皮 幅広い指末節骨 短い指末節骨 誇張されたキューピッドの弓

常染色体優性遺伝

A rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.  >> 翻訳 (Google)

71
(80.7%)

Trisomy 8p

下顎後退 眼瞼裂斜上 短い第1中手骨 短い第4中足骨 薄い唇紅部縁

Trisomy 8p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with highly variable phenotype ranging from no dysmorphic features and only mild intellectual disability to patients with severe developmental delay, neonatal hypotonia, short stature, profound intellectual disability, mild dysmorphic features (e.g. mild ptosis, hypertelorism, down-slanting palpebral fissures, broad nasal bridge, short, prominent philtrum, abnormal dentition) and structural brain abnormalities. Autism, epilepsy, and spastic paraplegia have also been reported.  >> 翻訳 (Google)

72
(80.6%)

Rothmund-Thomson syndrome
----
Rothmund-Thomson 症候群

内眼角贅皮 小顎 尺骨の異常 母指無形成/低形成 短い人中

常染色体劣性遺伝

Rothmund-Thomson syndrome (RTS) is a genodermatosis presenting with a characteristic facial rash (poikiloderma) associated with short stature due to pre- and postnatal growth delay, sparse scalp hair, sparse or absent eyelashes and/or eyebrows, juvenile cataracts, skeletal abnormalities, radial ray defects, premature aging and a predisposition to certain cancers.  >> 翻訳 (Google)

73
(80.5%)

Fibulo-ulnar hypoplasia-renal anomalies syndrome

小顎 尺骨低形成 幅広い鼻梁 指の基節骨無形成 眼瞼裂斜下

常染色体劣性遺伝

Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.  >> 翻訳 (Google)

73
(80.5%)

Atrioventricular defect-blepharophimosis-radial and anal defect syndrome

小顎 尺骨低形成 幅広い鼻梁 母指無形成/低形成 眼瞼裂狭小

常染色体劣性遺伝

A rare, genetic multiple congenital anomalies 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)

75
(80.5%)

Pallister-Hall syndrome
----
Pallister-Hall 症候群

唇裂 小顎後退 橈側湾曲 眼瞼裂斜下 短い第4中手骨

常染色体優性遺伝

Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.  >> 翻訳 (Google)

75
(80.5%)

Turner syndrome
----
Turner 症候群

Abnormal forearm bone morphology 内眼角贅皮 唇裂 小顎 短い第4中手骨

Turner syndrome is a chromosomal disorder associated with the complete or partial absence of an X chromosome.  >> 翻訳 (Google)

77
(80.5%)

Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome

内眼角贅皮 小顎 母指の部分欠損 片側性橈骨無形成 長い人中

常染色体優性遺伝

78
(80.4%)

TARP syndrome
----
TARP 症候群 (TARPS)

口蓋裂 小顎 短い眼瞼裂 近位橈骨低形成

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)

79
(80.4%)

Trisomy 13
----
13番染色体トリソミー

Meromelia 小顎 指の重なり 正中口唇裂 睫毛の異常

Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.  >> 翻訳 (Google)

79
(80.4%)

Holoprosencephaly
----
全前脳症

Meromelia 内眼角贅皮 小顎 指の重なり 正中口唇裂

Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity.  >> 翻訳 (Google)

81
(80.4%)

Contractures-developmental delay-Pierre Robin syndrome

口蓋裂 小顎 橈尺骨癒合 眼瞼裂斜下 短い母指

82
(80.3%)

Treacher-Collins syndrome
----
トリーチャー・コリンズ症候群

上口唇裂 小顎 眼瞼裂

Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.  >> 翻訳 (Google)

83
(80.2%)

DOORS syndrome

11 対肋骨 内眼角贅皮 短い第5指 薄い上口唇唇紅部

常染色体劣性遺伝

DOORS syndrome (also known as DOOR syndrome) is a multiple congenital anomalies-intellectual disability syndrome characterized by sensorineural hearing loss (deafness), onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures.  >> 翻訳 (Google)

84
(80.1%)

Lethal faciocardiomelic dysplasia

小顎後退 尺骨低形成 狭い口 短い第5指

常染色体劣性遺伝

An extremely rare polymalformative syndrome.  >> 翻訳 (Google)

85
(80.0%)

Aarskog-Scott syndrome
----
Aarskog-Scott 症候群

上口唇裂 上顎低形成 内眼角贅皮 短い手掌 短い指

X連鎖劣性遺伝

A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.  >> 翻訳 (Google)

86
(79.8%)

Microcephalic osteodysplastic primordial dwarfism types I and III

分厚い唇紅部縁 大きな手 小顎 幅広い指末節骨 眼瞼裂斜下

Rare disorders characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although they were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.  >> 翻訳 (Google)

87
(79.8%)

Tetralogy of Fallot
----
ファロー四徴症

内眼角贅皮 小顎 橈尺骨癒合 片側性口唇裂 短指症候群

常染色体優性遺伝 多因子性遺伝

Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.  >> 翻訳 (Google)

88
(79.8%)

Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

小顎 橈尺骨癒合 眼瞼裂狭小 短い手掌 長い人中

Capra-DeMarco syndrome is characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.  >> 翻訳 (Google)

88
(79.8%)

Genitopatellar syndrome
----
性器膝蓋骨症候群

小顎 橈尺骨癒合 眼瞼裂狭小 短い手掌 長い人中

常染色体優性遺伝 常染色体劣性遺伝

Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency.  >> 翻訳 (Google)

88
(79.8%)

2q31.1 microdeletion syndrome

内眼角贅皮 小顎 尺骨の異常 短い手掌 長い人中

2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.  >> 翻訳 (Google)

91
(79.8%)

Duodenal atresia
----
十二指腸閉鎖

小顎 橈骨欠損 片側性口唇裂 短い眼瞼裂

常染色体劣性遺伝

Duodenal atresia is an embryopathy of the cranial intestine that leads to a complete absence of the duodenal lumen.  >> 翻訳 (Google)

92
(79.8%)

Acrodysostosis
----
先端骨形成不全症

下顎突出 内眼角贅皮 尺骨低形成 短い中手骨 開口

A rare primary bone dysplasia characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.  >> 翻訳 (Google)

93
(79.7%)

Hypertelorism-hypospadias-polysyndactyly syndrome

大きな泉門 幅広い母指 眼瞼裂 軸前性多指症 長い人中

常染色体劣性遺伝

Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.  >> 翻訳 (Google)

94
(79.6%)

Coffin-Lowry syndrome
----
Coffin-Lowry 症候群 (CLS)

上顎低形成 内眼角贅皮 分厚い下口唇唇紅部 短い中手骨 短い指末節骨

X連鎖優性遺伝 孤発性

Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.  >> 翻訳 (Google)

95
(79.6%)

Oculofaciocardiodental syndrome
----
小眼球, 症候群性2 (MCOPS2)

橈尺骨癒合 短い母指 長い人中 高位の弓形眉毛

Oculo-facio-cardio-dental syndrome (OFCD) is a very rare multiple congenital anomaly syndrome characterized by dental radiculomegaly, congenital cataract, facial dismorphism and congenital heart disease.  >> 翻訳 (Google)

96
(79.6%)

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

人中の異常 大きな手 小肢症 小顎 眼瞼の異常

Neu-Laxova syndrome (NLS) is a rare, multiple malformation syndrome characterised by severe intrauterine growth retardation (IUGR), severe microcephaly with a sloping forehead, severe ichthyosis (collodion baby type), and facial dysmorphism.  >> 翻訳 (Google)

97
(79.6%)

Moebius syndrome
----
Moebius 症候群

下口唇唇紅部外反 内眼角贅皮 小顎 尺骨の異常 母指無形成/低形成

常染色体優性遺伝 孤発性

A very rare congenital cranial dysinnervation disorder characterized by complete or incomplete facial paralysis in association with bilateral palsy of the abducens nerve causing impairment of ocular abduction. The syndrome also includes various other congenital anomalies.  >> 翻訳 (Google)

98
(79.5%)

Acrofacial dysostosis, Palagonia type

小顎 片側性口唇裂 眼瞼の異常 短い第4中手骨

常染色体優性遺伝

A very rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.  >> 翻訳 (Google)

99
(79.5%)

Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome

前頭洞の無形成/低形成 口蓋裂 眼瞼裂 短指症候群

常染色体劣性遺伝

Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome is a rare, genetic, orofacial clefting malformation syndrome characterized by severe frontonasal dysplasia with complete cleft palate, facial cleft, extreme microphtalmia and hypertelorism, frequently associated with eyelid colobomata, sparse or absent eyelashes/eyebrows, wide nasal bridge with hypoplastic alae nasi, low-set, posteriorly rotated ears and caudal appendage in the sacral region.  >> 翻訳 (Google)

100
(79.5%)

Oculoauriculofrontonasal syndrome
----
眼耳前頭鼻症候群

上眼瞼コロボーマ 小顎 幅広い人中

Oculoauriculofrontonasal syndrome is a rare dysostosis syndrome characterized by vertical, median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations, manifesting with highly variable craniofacial features which include hypertelorism, eyelid colobomas, orbital dystopia, epibulbar dermoids, nasal anomalies (e.g. wide nasal bridge, bifid nose, widely separated, slit-like nares, nasal bone dysplasia), auricular and middle ear dysplasia (microtia, aural stenosis, pre-auricular skin tags/pits), cleft lip/palate, mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated.  >> 翻訳 (Google)