1098
(60.4%)

Microcephaly-cervical spine fusion anomalies syndrome

小顎 歯形態異常 額傾斜

常染色体劣性遺伝

Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive.  >> 翻訳 (Google)

1098
(60.4%)

Lipodystrophy due to peptidic growth factors deficiency

小顎 狭い口

常染色体劣性遺伝

Deficiency of the peptidic growth factors is characterized by loss of subcutaneous fat layers on the limbs, lipodystrophy in the face and trunk and scleroderma-like skin disorders (thickened skin on the palms and soles and skin pigment changes on the limbs and trunk).  >> 翻訳 (Google)

1098
(60.4%)

Splenogonadal fusion-limb defects-micrognathia syndrome

口蓋の異常 小顎

常染色体優性遺伝

Splenogonadal fusion-limb defects-micrognatia syndrome is a rare dysostosis syndrome characterized by abnormal fusion of the spleen with the gonad (or more rarely with remnants of the mesonephros), limb abnormalities (consisting of amelia or severe reduction defects leading to upper and/or lower rudimentary limbs) and orofacial abnormalities such as cleft palate, bifid uvula, microglossia and mandibular hypoplasia. It could also be associated with other malformations such as cryptorchidism, anal stenosis/atresia, hypoplastic lungs and cardiac malformations.  >> 翻訳 (Google)

1098
(60.4%)

Microcephalic primordial dwarfism, Montreal type

口蓋の異常 小顎

常染色体劣性遺伝

A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by severe short stature and craniofacial dysmorphism (microcephaly, narrow face with flat cheeks, ptosis, prominent nose with a convex ridge, low-set ears with small or absent lobes, high-arched/cleft palate, micrognathia), associated with premature graying and loss of scalp hair, redundant, dry and wrinkled skin of the palms, premature senility and varying degrees of intellectual disability. Cryptorchidism and skeletal anomalies may also be observed. There have been no further descriptions in the literature since 1970.  >> 翻訳 (Google)

1098
(60.4%)

Taurodontism
----
タウロドント

小顎 狭い口蓋

Taurodontism is a dental anomaly characterized by an elongated pulp chamber, displaced toward the apical floor of the tooth with no constriction at the level of the cemento-enamel junction, and short roots. It most frequently affects permanent molar teeth. Taurodontism increases the risk of pulp exposure. It can be isolated or associated with certain syndromes such as Down syndrome, amelogenesis imperfecta, and Klinefelter syndrome (see these terms).  >> 翻訳 (Google)

1098
(60.4%)

Adult-onset nemaline myopathy

小顎 高口蓋

A rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset.  >> 翻訳 (Google)

1098
(60.4%)

Childhood-onset nemaline myopathy

小顎 高口蓋

Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.  >> 翻訳 (Google)

1098
(60.4%)

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

小顎 高口蓋

1098
(60.4%)

Bilateral polymicrogyria

小顎 幅広い口

Bilateral polymicrogyria is a rare cerebral malformation due to abnormal neuronal migration defined as a cerebral cortex with many excessively small convolutions. It presents with developmental delay, intellectual disability, seizures and various neurological impairments and may be isolated or comprise a clinical feature of many genetic syndromes. It may also be associated with perinatal cytomegalovirus infection.  >> 翻訳 (Google)

1098
(60.4%)

Congenital myasthenic syndrome
----
先天性筋無力症候群

小顎後退 高口蓋

Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness.  >> 翻訳 (Google)

1111
(60.3%)

Disorder of sex development-intellectual disability syndrome

外反膝 短い人中 短い頸部 連続眉毛

常染色体劣性遺伝

Verloes-Gillerot-Fryns syndrome is a rare association of malformations.  >> 翻訳 (Google)

1112
(60.3%)

Neurofibroma
----
神経線維腫

偽関節 外反(眼瞼) 大頭 腫脹神経線維腫 舌結節

1113
(60.3%)

Ring chromosome 8 syndrome

内眼角贅皮 口蓋の異常 小頭 指偏位

Chromosome 8-derived supernumerary ring/marker is a rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome (see this term).  >> 翻訳 (Google)

1113
(60.3%)

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

内眼角外方偏位 大頭 狭い口 軸後性多指症

A syndrome that is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.  >> 翻訳 (Google)

1113
(60.3%)

17p13.3 microduplication syndrome

前頭突出, 額突出 狭い口 眼瞼裂斜下 第5指弯指

17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.  >> 翻訳 (Google)

1113
(60.3%)

Hepatic fibrosis-renal cysts-intellectual disability syndrome

両頭頂径狭小 眼瞼裂狭小 第5指弯指 舌根沈下

常染色体劣性遺伝

Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.  >> 翻訳 (Google)

1113
(60.3%)

Congenital contractural arachnodactyly
----
先天性拘縮性くも指症

くも指 眼瞼裂狭小 脳瘤 高口蓋

常染色体優性遺伝

Congenital contractural arachnodactyly (CCA, Beals syndrome) is a connective tissue disorder characterized by multiple flexion contractures, arachnodactyly, severe kyphoscoliosis, abnormal pinnae and muscular hypoplasia.  >> 翻訳 (Google)

1113
(60.3%)

Oculocerebral hypopigmentation syndrome, Cross type

くも指 外反(眼瞼) 小頭 狭い口

常染色体劣性遺伝

Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.  >> 翻訳 (Google)

1113
(60.3%)

Juvenile polyposis syndrome
----
大腸ポリープ症, 若年型 (PJI)

ばち指 大頭 狭い口 眼瞼裂斜下

A rare condition characterized by the presence of juvenile hamartomatous polyps in the gastrointestinal (GI) tract.  >> 翻訳 (Google)

1113
(60.3%)

De Barsy syndrome

内眼角贅皮 内転母指 狭い口 短頭

De Barsy syndrome (DBS) is characterized by facial dysmorphism (down-slanting palpebral fissures, a broad flat nasal bridge and a small mouth) with a progeroid appearance, large and late-closing fontanel, cutis laxa (CL), joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit and developmental delay, and corneal clouding and cataract.  >> 翻訳 (Google)

1121
(60.2%)

Thoraco-abdominal enteric duplication

屈指 肋骨欠損

Thoraco-abdominal enteric duplication is a rare, syndromic intestinal malformation characterized by single or multiple smooth-walled, often tubular, cystic lesions, which on occasion contain ectopic gastric mucosa, located in the thorax (usually in the posterior mediastinum and to the right of the midline) and in the abdomen. Infants usually present with respiratory distress and older patients with heartburn, abdominal pain, vomiting and/or melena. Vertebral anomalies in the lower cervical spine, with CNS involvement, are frequently present and complications, such as bowel obstruction, perforation and intussusception, have also been reported.  >> 翻訳 (Google)

1122
(60.2%)

Fabry disease
----
Fabry 病

分厚い下口唇唇紅部 大腿骨の異常 結膜毛細血管拡張 胸痛

X連鎖遺伝 X連鎖劣性遺伝

Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.  >> 翻訳 (Google)

1123
(60.2%)

Dysosteosclerosis
----
異骨硬化症

椎体骨低形成 歯エナメル質異常 骨幹端の異常

常染色体劣性遺伝 X連鎖劣性遺伝

Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.  >> 翻訳 (Google)

1124
(60.1%)

Radioulnar synostosis-developmental delay-hypotonia syndrome

大頭 橈尺骨癒合 歯の異常

常染色体劣性遺伝

Radioulnar synostosis-developmental delay-hypotonia syndrome, also known as Der Kaloustian-McIntosh-Silver syndrome, is an extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay, and dysmorphic facial features (long face, prominent nose and ears).  >> 翻訳 (Google)

1125
(60.1%)

Mucopolysaccharidosis type 6

分厚い下口唇唇紅部 副鼻腔炎 巨舌 骨幹端の異常

常染色体劣性遺伝

Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.  >> 翻訳 (Google)

1126
(60.1%)

Craniometaphyseal dysplasia

下顎後退 内眼角外方偏位 幅広い鼻梁 骨幹端の異常

Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.  >> 翻訳 (Google)

1127
(60.1%)

Cleft palate-stapes fixation-oligodontia syndrome

内眼角外方偏位 口蓋裂 手根骨癒合 手関節の異常

常染色体劣性遺伝

Cleft palate - stapes fixation - oligodontia is characterized by cleft soft palate, severe oligodontia of the deciduous teeth, absence of the permanent dentition, bilateral conductive deafness due to fixation of the footplate of the stapes, short halluces with a wide space between the first and second toes, and fusion of carpal and tarsal bones. It has been described in two sisters of Swedish extraction. An autosomal recessive mode of inheritance is likely. There have been no further descriptions in the literature since 1971.  >> 翻訳 (Google)

1128
(60.0%)

Spondylo-ocular syndrome

扁平足 眉毛の異常 短い頸部 長い人中

常染色体劣性遺伝

Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.  >> 翻訳 (Google)

1129
(60.0%)

Chronic myeloid leukemia
----
慢性骨髄性白血病

下眼瞼浮腫 乾燥性 副鼻腔炎 掌蹠過角化症

体細胞突然変

Chronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases.  >> 翻訳 (Google)

1130
(60.0%)

Deafness-epiphyseal dysplasia-short stature syndrome

前頭突出, 額突出 大腿骨骨端の異常 尖った下顎 短指症候群 鼻涙管閉塞

常染色体劣性遺伝

This syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit).  >> 翻訳 (Google)

1131
(59.9%)

Fetal minoxidil syndrome

小顎 第5指弯指 落ちくぼんだ鼻梁

Fetal minoxidil syndrome is characterized by a group of symptoms that may be observed in a fetus or newborn when the mother has taken minoxidil during pregnancy. Minoxidil is used in the treatment of malignant renal hypertension and as a topical solution to induce scalp hair growth. Hypertrichosis that gradually diminishes during the first six postnatal months has been reported. Additional reported features include cardiac (congenital great vessel transposition and pulmonary valve stenosis), neurodevelopmental (caudal regression sequence) (see these terms), gastrointestinal, renal, and limb malformations. Conclusive studies are however not available.  >> 翻訳 (Google)

1131
(59.9%)

Microphthalmia-microtia-fetal akinesia syndrome

前頭突出, 額突出 小顎 指骨の指関節癒合症

1131
(59.9%)

Severe X-linked intellectual disability, Gustavson type

三指節母指 反復性上気道感染症 小顎

X連鎖遺伝 X連鎖劣性遺伝

Severe X-linked intellectual disability, Gustavson type is characterised by X-linked mental retardation, microcephaly, optical atrophy with impaired vision or blindness, a severe hearing defect, facial dysmorphology, spasticity, epileptic seizures and restricted joint movement. It has been described in seven children from two generations of a Swedish family. All patients died in during early childhood.  >> 翻訳 (Google)

1134
(59.9%)

Central diabetes insipidus
----
中枢性尿崩症

Clinodactyly 副鼻腔炎 眼瞼皮膚弛緩症 顔面麻痺

Central diabetes insipidus (CDI) is a hypothalamus-pituitary disease characterized by polyuria and polydipsia due to a vasopressin (AVP) deficiency. It can be inherited or acquired (hereditary CDI and acquired CDI; see these terms).  >> 翻訳 (Google)

1135
(59.8%)

Oromandibular dystonia

口唇の異常 眼瞼スパスム 開口障害 (牙関緊急)

A form of focal dystonia, affecting the lower part of the face and jaws. It is characterized by sustained or repetitive involuntary jaw and tongue movements and facial grimacing caused by involuntary spasms of the masticatory, facial, pharyngeal, lingual, and lip muscles.  >> 翻訳 (Google)

1136
(59.7%)

Duplication of the pituitary gland

下顎後退 口蓋裂 幅広い口 足底皮膚の異常

Duplication of the pituitary gland is a rare midline cerebral malformation disorder characterized by duplicated pituitary stalks and/or glands within duplicated sella. Patients may present various degrees of facial dysmorphism and endocrine abnormalities, including precocious puberty, hypogonadism, hypothyroidism and/or hyperprolactinemia, as well as associated congenital anomalies, such as clift lip/palate, bifid nasal bridge/tongue/uvula, hypothalamic enlargement with or without hamartoma, nasopharyngeal tumors, corpus callosum agenesis/hypoplasia, basilar artery duplication, and/or vertebral defects (in particular, duplication of the odontoid process).  >> 翻訳 (Google)

1137
(59.7%)

Megalencephaly
----
巨脳症

外反膝 大きな手 尖った下顎 泉門と頭蓋骨縫合の異常

1138
(59.7%)

Tibial hemimelia
----
脛骨欠損

三指節母指 小肢症 短頭

常染色体優性遺伝 常染色体劣性遺伝

Tibial hemimelia is a rare congenital anomaly characterized by deficiency of the tibia with a relatively intact fibula.  >> 翻訳 (Google)

1139
(59.6%)

Astley-Kendall dysplasia

小肢症 頭蓋骨骨化の異常

A rare, lethal skeletal dysplasia characterized by short limbed dwarfism, osteogenesis imperfecta, and punctate calcification within cartilage. It has been described in less than ten cases.  >> 翻訳 (Google)

1139
(59.6%)

Dysplastic cortical hyperostosis

四肢成長不全 小頭

Dysplastic cortical hyperostosis is an extremely rare primary bone dysplasia with increased bone density characterized by lethal neonatal dwarfism with hydrops, narrow chest and short limbs with extensive cortical thickening of all long bones, ribs, clavicles and scapulae, and coronal clefts in vertebral bodies.  >> 翻訳 (Google)

1139
(59.6%)

Hemidystonia-hemiatrophy syndrome

副鼻腔の異常 四肢近位短縮性下肢短縮

Hemidystonia-hemiatrophy (HD-HA) is a rare dystonia, usually caused by a static cerebral injury occurring at birth or during infancy, that is characterized by a combination of hemidystonia (HD), involving one half of the body, and hemiatrophy (HA) on the same side as the HD.  >> 翻訳 (Google)

1139
(59.6%)

Idiopathic hemiconvulsion-hemiplegia syndrome

大頭 片側萎縮

1139
(59.6%)

Congenital varicella syndrome
----
先天性水痘症候群

小肢症 小頭

Fetal varicella syndrome (CVS) is an acquired developmental anomaly syndrome characterized by skin, neurological, ocular, limbs and growth defects secondary to maternal Varicella-Zoster Virus (VZV) infection.  >> 翻訳 (Google)

1139
(59.6%)

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

小肢症 小頭

常染色体劣性遺伝

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome is characterised by multiple fractures in the prenatal period, microcephaly and bilateral cataracts. It has been described in three infants all of whom died in utero or a few hours after birth. The mode of inheritance appears to be autosomal recessive.  >> 翻訳 (Google)

1145
(59.6%)

Qazi-Markouizos syndrome

先細りの指 幅広い人中 漏斗胸 開口

常染色体劣性遺伝

A rare disorder characterized principally by non-progressive central hypotonia, chronic constipation, severe psychomotor retardation, abnormal dermatoglyphics, dysharmonic skeletal maturation and disproportionate muscle fibres. Seizures or an abnormal electroencephalograph were also reported. To date, the syndrome has been reported in three unrelated Puerto Rican boys.  >> 翻訳 (Google)

1146
(59.6%)

Aneurysmal bone cyst

側弯 歯未萌出 短い長管骨 (手) 長い指 顔面非対称

1147
(59.5%)

Zellweger-like syndrome without peroxisomal anomalies

両側性単一手掌横線 内眼角贅皮 小頭 高口蓋

Zellweger-like syndrome without peroxisomal anomalies is an extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome (see this term), such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive.  >> 翻訳 (Google)

1147
(59.5%)

Pachyonychia congenita
----
先天性爪肥厚症

小頭 掌蹠水泡 歯の異常 眼瞼炎

Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.  >> 翻訳 (Google)

1147
(59.5%)

KID syndrome
----
KID症候群

Dandy-Walker 奇形 掌蹠過角化症 睫毛の異常 舌の異常

A rare congenital ectodermal disorder characterized by vascularizing keratitis, hyperkeratotic skin lesions and hearing loss.  >> 翻訳 (Google)

1150
(59.5%)

Dental ankylosis
----
永久歯臼歯の二次性遺残

下顎突出 歯エナメル質異常 第5指弯指

常染色体優性遺伝

A rare disorder characterized by the fusion of the tooth to the bone, preventing both eruption and orthodontic movement.  >> 翻訳 (Google)

1150
(59.5%)

Microcephaly-glomerulonephritis-marfanoid habitus syndrome

くも指 下顎突出 高口蓋

常染色体劣性遺伝

This syndrome is characterised by intellectual deficit, marfanoid habitus, microcephaly, and glomerulonephritis.  >> 翻訳 (Google)

1150
(59.5%)

Autosomal recessive centronuclear myopathy

下顎後退 狭い口 翼状肩甲骨 長い指

An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.  >> 翻訳 (Google)

1150
(59.5%)

Familial thoracic aortic aneurysm and aortic dissection

くも指 下顎後退 高狭口蓋

Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.  >> 翻訳 (Google)

1154
(59.5%)

17q11.2 microduplication syndrome

小頭 平坦な頬 疎な睫毛 薄い唇紅部縁

17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.  >> 翻訳 (Google)

1154
(59.5%)

Xeroderma pigmentosum
----
色素性乾皮症

口唇炎 小頭 眼瞼炎 頭蓋顔面過骨症

Xeroderma pigmentosum (XP) is a rare genodermatosis characterized by extreme sensitivity to ultraviolet (UV)-induced changes in the skin and eyes, and multiple skin cancers. It is subdivided into 8 complementation groups, according to the affected gene: classical XP (XPA to XPG) and XP variant (XPV) (see these terms).  >> 翻訳 (Google)

1156
(59.5%)

Fragile X syndrome
----
脆弱X症候群

Pierre-Robin シークェンス 下顎突出 指関節過伸展

X連鎖優性遺伝

Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.  >> 翻訳 (Google)

1157
(59.5%)

Combined pituitary hormone deficiencies, genetic forms

多指趾症 正中口唇口蓋裂 落ちくぼんだ鼻梁 頚椎可動性減少

Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy.  >> 翻訳 (Google)

1158
(59.5%)

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome

下顎後退 口蓋裂 大頭 眼瞼裂斜下

X連鎖劣性遺伝

Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome is a developmental anomalies syndrome characterized by coloboma of the iris and optic nerve, facial dysmorphism (high forehead, microretrognathia, low-set ears), intellectual deficit, agenesis of the corpus callosum (ACC), sensorineural hearing loss, skeletal anomalies and short stature.  >> 翻訳 (Google)

1159
(59.4%)

Cooper-Jabs syndrome

平坦な頬 肋骨欠損 近位母指

常染色体劣性遺伝

A rare multiple congenital anomalies/dysmorphic syndrome characterized by auditory canal atresia (resulting in moderate conductive hearing loss) associated with intellectual disability, ventricular septal defect, umbilical hernia, anteriorly displaced anus, various skeletal anomalies (such as mild clubfoot, long fifth fingers, proximally placed thumbs), and craniofacial dysmorphism which includes brachycephaly, prominent forehead, flattened occiput, midface hypoplasia, anteverted nares, and low set, posteriorly rotated ears with overlapping superior helix. There have been no further descriptions in the literature since 1987.  >> 翻訳 (Google)

1160
(59.4%)

Hypomandibular faciocranial dysostosis
----
下顎低形成性顔頭蓋異骨症

三角頭蓋 上顎頬骨低形成 口蓋裂 眼瞼裂斜下

常染色体劣性遺伝

Hypomandibular faciocranial dysostosis is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia with persistent buccopharyngeal membrane, severe hypoglossia with glossoptosis, severe mandibular hypoplasia, and low set ears) associated with laryngeal hypoplasia and craniosynostosis. Other variable features include cleft palate, optic nerve coloboma and choanal stenosis.  >> 翻訳 (Google)

1161
(59.4%)

Encephalocraniocutaneous lipomatosis
----
脳頭蓋皮膚脂肪腫症

歯牙腫 片側肥大 眼瞼の異常 頭蓋顔面過骨症

体細胞モザイク 孤発性

A rare, genetic skin disease characterized by the ocular, cutaneous, and central nervous system anomalies. Typical clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous system lipomas, leading sometimes to seizures, spasticity, and intellectual disability. Nevus psiloliparus, focal dermal hypo- or aplasia, eyelid skin tags, colobomas, abnormal intracranial vessels, hemispheric atrophy, porencephalic cyst, and hydrocephalus have also been associated.  >> 翻訳 (Google)

1161
(59.4%)

Endophthalmitis
----
眼内炎

副鼻腔炎 感覚ニューロパチーによる遠位の骨髄炎又は壊死 (足) 眼瞼炎 重度の歯周炎

1163
(59.3%)

Alpha-1-antitrypsin deficiency
----
α1アンチトリプシン欠乏症

くも指 副鼻腔炎 結膜炎

常染色体劣性遺伝

A hereditary disease that develops in adulthood and is characterized by chronic liver disorders (cirrhosis), respiratory disorders (emphysema), and rarely panniculitis.  >> 翻訳 (Google)

1164
(59.3%)

Paramedian nasal cleft

内眼角外方偏位 小頭 片側性口唇裂

Paramedian nasal cleft is a rare developmental defect during embryogenesis characterized by a unilateral or bilateral coloboma of the nose, ranging in severity from a small notch, resulting in minor deviation of the nasal septum, to variable-sized clefts of the nasal ala which may be associated with small cysts or sinuses in the nasal midline. Defect may be isolated or may occur in association with cleft lip and/or other craniofacial anomalies (e.g. hypertelorism, broadening of nasal root, midline cleft). Dorsum and apex of nose are usually well preserved.  >> 翻訳 (Google)

1164
(59.3%)

Thomas syndrome
----
口唇口蓋裂-Potter シークェンス-心奇形

上口唇裂 眼瞼裂斜下 長頭

Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.  >> 翻訳 (Google)

1164
(59.3%)

Triopia

正中口唇裂 泉門と頭蓋骨縫合の異常 眼瞼裂狭小

1164
(59.3%)

Pai syndrome
----
上口唇正中裂-鼻中隔ポリープ

仙骨部陥凹 正中口唇裂 眼瞼裂斜下 脳瘤

常染色体優性遺伝

Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development.  >> 翻訳 (Google)

1164
(59.3%)

Cerebrofaciothoracic dysplasia
----
頭蓋顔面形態異常-骨格奇形-精神遅滞症候群

上口唇裂 内眼角贅皮 短頭

常染色体劣性遺伝

Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.  >> 翻訳 (Google)

1169
(59.3%)

Von Voss-Cherstvoy syndrome
----
DK-あざらし肢奇形症候群

アザラシ肢 血小板減少

常染色体劣性遺伝

Von Voss-Cherstvoy syndrome is a very rare disorder with phocomelia of upper limbs, encephalocele, variable brain anomalies, urogenital abnormalities, and thrombocytopenia.  >> 翻訳 (Google)

1169
(59.3%)

Mirror polydactyly-vertebral segmentation-limbs defects syndrome

アザラシ肢 裂手

A rare disorder characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.  >> 翻訳 (Google)

1171
(59.3%)

6p22 microdeletion syndrome

内眼角贅皮 口蓋の異常 合指症 頭蓋骨の異常

6p22 microdeletion syndrome is a newly described syndrome associated with a variable clinical phenotype including developmental delay, facial dysmorphism, short neck and diverse malformations.  >> 翻訳 (Google)

1171
(59.3%)

9q21.13 microdeletion syndrome

Craniosynostosis 口角下垂 多指趾症 長い眼瞼裂

1173
(59.3%)

Severe intellectual disability and progressive spastic paraplegia

寛骨臼異形成 小頭 幅広い口 短い人中

Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.  >> 翻訳 (Google)

1174
(59.2%)

Alopecia-intellectual disability syndrome

小頭 異常な鼻形態 眉毛の無形成/低形成 短指症候群 裂手

An extremely rare genetic syndromic intellectual disability described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.  >> 翻訳 (Google)

1175
(59.2%)

Congenital pseudoarthrosis of the clavicle

先天性鎖骨偽関節 頸肋

常染色体優性遺伝

Congenital pseudoarthrosis of the clavicle is a rare benign condition, characterized by a painless mass or swelling over the clavicle.  >> 翻訳 (Google)

1176
(59.2%)

Short stature, Brussels type

三角形の顔 小顎後退 骨端骨化遅延

常染色体劣性遺伝

This syndrome is characterised by short stature presenting in the neonatal period associated with osteochondrodysplastic lesions and facial dysmorphism.  >> 翻訳 (Google)

1177
(59.2%)

OSLAM syndrome
----
OSLAM 症候群

橈尺骨癒合 第5指弯指 齲歯

常染色体優性遺伝

OSLAM syndrome is characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangy, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia.  >> 翻訳 (Google)

1178
(59.1%)

Curry-Jones syndrome
----
Curry-Jones 症候群

Craniosynostosis 幅広い母指 軸前性多指症 顔面非対称

体細胞モザイク

Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.  >> 翻訳 (Google)

1179
(59.1%)

Lipoid proteinosis
----
類脂質蛋白症

分厚い下口唇唇紅部 大脳石灰化 歯肉の異常 眼瞼炎

常染色体劣性遺伝

Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.  >> 翻訳 (Google)

1180
(59.0%)

Proximal symphalangism

中手骨指骨癒合 側弯 短指症候群 鼻の異常

Proximal symphalangism is a very rare, genetic bone disorder characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive hearing loss in some patients.  >> 翻訳 (Google)

1181
(58.9%)

Cleft hard palate
----
硬口蓋裂

小顎 目立つ額

1181
(58.9%)

Microcephalic primordial dwarfism-insulin resistance syndrome

小顎 頬突出

1181
(58.9%)

Maternal uniparental disomy of chromosome 9

小顎 長い顔

Maternal uniparental disomy of chromosome 9 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.  >> 翻訳 (Google)

1181
(58.9%)

Monosomy 21

小顎 目立つ鼻梁

Monosomy 21 is a chromosomal anomaly characterized by the loss of variable portions of a segment of the long arm of chromosome 21 that leads to an increased risk of birth defects, developmental delay and intellectual deficit.  >> 翻訳 (Google)

1181
(58.9%)

X-linked lissencephaly with abnormal genitalia

小顎 目立つ額

X連鎖遺伝 X連鎖劣性遺伝

X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.  >> 翻訳 (Google)

1181
(58.9%)

Pulmonary agenesis

小顎 耳介前皮膚肉柱

A rare, non-syndromic respiratory or mediastinal malformation characterized by unilateral complete absence of lung tissue, bronchi, and pulmonary vessels. It may be isolated or associated with congenital malformations, most commonly with heart anomalies. Presentation is highly variable including airway narrowing, stridor, respiratory distress, recurrent respiratory tract infections, and pulmonary hypertension.  >> 翻訳 (Google)

1181
(58.9%)

Autosomal recessive polycystic kidney disease
----
常染色体劣性嚢胞腎

小顎 落ちくぼんだ鼻梁

A rare, genetic hepatorenal fibrocystic syndrome characterized by cystic dilatation and ectasia of renal collecting tubules, and a ductal plate malformation of the liver resulting in congenital hepatic fibrosis. Clinical presentation, whilst typically in utero or at birth, is variable and in the most severe cases includes Potter-sequence, oligohydramnios, pulmonary hypoplasia, and massively enlarged echogenic kidneys.  >> 翻訳 (Google)

1181
(58.9%)

Infant acute respiratory distress syndrome

小顎 短い鼻

多因子性遺伝 孤発性

Infant acute respiratory distress syndrome is a lung disorder that affects premature infants caused by developmental insufficiency of surfactant production and structural immaturity of the lungs. The symptoms usually appear shortly after birth and may include tachypnea, tachycardia, chest wall retractions (recession), expiratory grunting, nasal flaring and cyanosis during breathing efforts.  >> 翻訳 (Google)

1181
(58.9%)

Tricuspid atresia
----
三尖弁閉鎖

小顎 短い鼻中隔

Tricuspid atresia is (TA) a rare congenital heart malformation characterized by the congenital agenesis of tricuspid valve leading to severe hypoplasia of right ventricle (functionally univentricular). TA is associated with normally related or transposed great vessels (TGV, see this term), an obligatory interatrial connection that is crucial for survival (patent foramen ovale or atrial septal defect, osteum secondum type), ventricular septal defect (in 90% cases), pulmonary outflow obstruction - pulmonary atresia, stenosis or hypoplasia (usually in TA with normally related vessels but also in TGV), aortic coarctation and/or aortic arch interruption (usually in TA with TGV)(see these terms).  >> 翻訳 (Google)

1181
(58.9%)

Bronchopulmonary dysplasia
----
気管支肺異形成症

小顎 短い鼻

Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome (see these terms) in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.  >> 翻訳 (Google)

1181
(58.9%)

Myelomeningocele
----
脊髄髄膜瘤

小顎 顔面麻痺

1192
(58.9%)

Hypospadias-intellectual disability, Goldblatt type syndrome

三角頭蓋 口蓋の異常 第5指弯指 連続眉毛

常染色体劣性遺伝

Hypospasdias – intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial dysmorphism, joint laxity and beaked nails.  >> 翻訳 (Google)

1192
(58.9%)

Muckle-Wells syndrome
----
Muckle-Wells 症候群

口蓋の異常 大頭 屈指 結膜炎

常染色体優性遺伝

Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).  >> 翻訳 (Google)

1192
(58.9%)

Cronkhite-Canada syndrome
----
ポリープ症-皮膚色素沈着-禿頭-指爪異常

先細りの指 大頭 溝舌 眉毛の無形成/低形成

孤発性

Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.  >> 翻訳 (Google)

1195
(58.8%)

Naxos disease
----
Naxos 病

ばち状化 上口唇裂

常染色体劣性遺伝

A recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.  >> 翻訳 (Google)

1196
(58.8%)

17q12 microduplication syndrome

口蓋裂 合趾症 脊椎の異常 連続眉毛

常染色体優性遺伝

17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.  >> 翻訳 (Google)

1197
(58.8%)

Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome

大頭 尖った下顎 指尖の異常 眼瞼裂斜下

1197
(58.8%)

15q11q13 microduplication syndrome

内眼角贅皮 大頭 第5指弯指

常染色体優性遺伝 Heterogeneous 多因子性遺伝 孤発性

The 15q11-q13 microduplication (dup15q11-q13) syndrome is characterized by neurobehavioral disorders, hypotonia, cognitive deficit, language delay and seizures. Prevalence is unknown.  >> 翻訳 (Google)

1197
(58.8%)

15q13.3 microdeletion syndrome

内眼角贅皮 小頭 第5指弯指

常染色体優性遺伝

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.  >> 翻訳 (Google)

1197
(58.8%)

X-linked intellectual disability, Turner type

先細りの指 大頭 眼瞼裂斜下 長い顔

X連鎖遺伝 X連鎖優性遺伝

X-linked intellectual disability, Turner type is characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.  >> 翻訳 (Google)