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)

101
(79.5%)

Poland syndrome
----
Poland 症候群

唇裂 尺骨の異常 短い指 短い肋骨 網膜過誤腫

常染色体優性遺伝

Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly.  >> 翻訳 (Google)

102
(79.4%)

Cranioectodermal dysplasia

下口唇唇紅部外反 内眼角贅皮 四肢近位短縮 短い指 短い肋骨

Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).  >> 翻訳 (Google)

103
(79.4%)

Spondyloperipheral dysplasia-short ulna syndrome

はと胸 小肢症 尺骨低形成 短い中手骨

常染色体優性遺伝

Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralization of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability.  >> 翻訳 (Google)

104
(79.3%)

Ring chromosome 7 syndrome

下顎突出 内眼角贅皮 短い人中 短い第5指

Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis).  >> 翻訳 (Google)

105
(79.2%)

Phocomelia, Schinzel type

乏指症 口蓋裂 小顎 尺骨欠損

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)

106
(79.1%)

Hypoglossia-hypodactyly syndrome

内眼角外方偏位 唇裂 小顎 指の無形成/低形成 短い指末節骨

常染色体優性遺伝 孤発性

A rare disease characterized by the association of aglossia (absence of tongue), adactylia (absence of fingers or toes) and limb, craniofacial and other, less frequent malformations.  >> 翻訳 (Google)

107
(79.1%)

Aminopterin/methotrexate embryofetopathy

内眼角贅皮 小肢症 小顎 母指無形成/低形成 非正中口唇裂

A syndrome of developmental anomalies characterized by growth deficiency, facial dysmorphism and skull, limb and neural defects secondary to maternal exposure to aminopterin or methotrexate (MTX) during pregnancy.  >> 翻訳 (Google)

108
(79.0%)

Ruvalcaba syndrome
----
Ruvalcaba 症候群

小肢症 眼瞼裂斜下 短い中手骨 短い指 薄い唇紅部縁

常染色体優性遺伝

Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissures, microstomia, beaked nose, narrow maxilla), very short stature, narrow thoracic cage with pectus carinatum, hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.  >> 翻訳 (Google)

109
(79.0%)

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

内眼角贅皮 小顎 橈骨無形成/低形成 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)

110
(78.9%)

Saethre-Chotzen syndrome
----
Saethre-Chotzen 症候群 (SCS)

上顎低形成 内眼角贅皮 口蓋裂 短い指 近位橈骨-尺骨癒合

常染色体優性遺伝

Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.  >> 翻訳 (Google)

111
(78.8%)

Oligodontia
----
部分性無歯症

小顎 幅広い母指 片側性口唇裂 短指症候群 長い睫毛

Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth.  >> 翻訳 (Google)

112
(78.7%)

Blomstrand lethal chondrodysplasia

内眼角外方偏位 小顎 短い中手骨 長い人中

常染色体劣性遺伝

Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.  >> 翻訳 (Google)

113
(78.6%)

Brachytelephalangy-dysmorphism-Kallmann syndrome

内眼角外方偏位 短い指末節骨 薄い上口唇唇紅部

常染色体優性遺伝

Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome ; see this term). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986.  >> 翻訳 (Google)

113
(78.6%)

Char syndrome
----
Char 症候群 (CHAR)

眼瞼裂斜下 短い人中 短い第5指中節骨

常染色体優性遺伝

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism (wide-set eyes, downslanting palpebral fissures, mild ptosis, flat midface, flat nasal bridge and upturned nasal tip, short philtrum with a triangular mouth, and thickened, everted lips) and hand anomalies (aplasia or hypoplasia of the middle phalanges of the fifth fingers).  >> 翻訳 (Google)

113
(78.6%)

Hypertrichotic osteochondrodysplasia, Cantu type

内眼角贅皮 短い指末節骨 長い人中

常染色体優性遺伝

Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.  >> 翻訳 (Google)

113
(78.6%)

Distal 22q11.2 microdeletion syndrome

眼瞼裂狭小 短い手掌 短い指末節骨 薄い上口唇唇紅部

Distal 22q11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 22, with a highly variable phenotype characterized by prematurity, pre- and post-natal growth retardation, developmental delay (particularly speech), mild intellectual disability, variable cardiac defects, and minor skeletal anomalies (such as clinodactyly). Dysmorphic features include prominent forehead, arched eyebrows, deep set eyes, narrow upslanting palpebral fissures, ear abnormalities, hypoplastic alae nasi, smooth philtrum, down-turned mouth, thin upper lip, retro/micrognatia and pointed chin. For certain very distal deletions, there is a risk of developing malignant rhabdoid tumours.  >> 翻訳 (Google)

117
(78.4%)

Ulnar hypoplasia-split foot syndrome

尺骨低形成 裂手

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)

117
(78.4%)

Upper limb mesomelic dysplasia
----
尺骨低形成

尺骨低形成 橈側湾曲 腓骨無形成

常染色体優性遺伝

This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.  >> 翻訳 (Google)

117
(78.4%)

Mesomelic dwarfism, Reinhardt-Pfeiffer type

小肢症 尺骨低形成 斜視

常染色体優性遺伝

A rare disorder characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.  >> 翻訳 (Google)

120
(78.4%)

Acromegaly
----
先端巨大症

下顎突出 分厚い下口唇唇紅部 大きな手 眼瞼浮腫 短い第5中手骨

An acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.  >> 翻訳 (Google)