1001
(62.4%)

Leprosy
----
ハンセン病

口唇炎 外反(眼瞼) 尺側鷲手 背部痛

A chronic infectious disease affecting primarily the skin and peripheral nervous system.  >> 翻訳 (Google)

1002
(62.4%)

Glossopalatine ankylosis

奇肢症 小顎 無舌

Glossopalatine ankylosis is a disorder belonging to the group of oromandibular-limb hypogenesis syndromes (OLHS) and is characterised by the presence of an intraoral band of variable thickness attaching the tongue to the hard palate or maxillary alveolar ridge.  >> 翻訳 (Google)

1003
(62.4%)

Spondyloenchondrodysplasia

小肢症 歯の異常

Spondyloenchondrodysplasia (SPENCD) is a very rare genetic skeletal dysplasia characterized clinically by skeletal anomalies (short stature, platyspondyly, short broad ilia) and enchondromas in the long bones or pelvis. SPENCD may have a heterogeneous clinical spectrum with neurological involvement (spasticity, mental retardation and cerebral calcifications) or autoimmune manifestations, such as immune thrombocytopenic purpura, systemic lupus erythematosus (see these terms) hemolytic anemia and thyroiditis.  >> 翻訳 (Google)

1003
(62.4%)

Localized scleroderma
----
限局性強皮症

Gingival recession 片側萎縮

Localized scleroderma is the skin localized form of scleroderma (see this term) characterized by fibrosis of the skin causing cutaneous plaques or strips.  >> 翻訳 (Google)

1003
(62.4%)

Poliomyelitis
----
灰白髄炎

片側萎縮 耳下腺炎 顔面非対称

Poliomyelitis is a viral infection caused by any of three serotypes of human poliovirus, which is part of the family of enteroviruses.  >> 翻訳 (Google)

1006
(62.3%)

Mesomelic dysplasia, Kantaputra type
----
四肢中部短縮性異形成, Kantaputra 型 (MMDK; MDK)

四肢中部短縮 第5指弯指 肋骨の異常

常染色体優性遺伝

Mesomelic dysplasia Kantaputra type (MDK) is a rare skeletal disease characterized by symmetric shortening of the middle segments of limbs and short stature.  >> 翻訳 (Google)

1007
(62.3%)

Omodysplasia

四肢近位短縮 骨格異形成

Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs.  >> 翻訳 (Google)

1007
(62.3%)

Osteocraniostenosis
----
細い骨異形成

子宮内成長遅滞 小肢症

常染色体優性遺伝

Osteocraniostenosis is a lethal skeletal dysplasia characterized by a cloverleaf skull anomaly, facial dysmorphism, limb shortness, splenic hypo/aplasia and radiological anomalies including thin tubular bones with flared metaphyses and deficient calvarial mineralization.  >> 翻訳 (Google)

1007
(62.3%)

Spondyloepiphyseal dysplasia, Kimberley type
----
脊椎骨端異形成 , Kimberley 型

小肢症 扁平脊椎

常染色体優性遺伝

Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.  >> 翻訳 (Google)

1007
(62.3%)

Coxoauricular syndrome
----
股耳症候群

小肢症 難聴

Coxoauricular syndrome is an extremely rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.  >> 翻訳 (Google)

1007
(62.3%)

Multiple epiphyseal dysplasia due to collagen 9 anomaly

小肢症 歩行障害

Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.  >> 翻訳 (Google)

1007
(62.3%)

Heart defects-limb shortening syndrome

四肢中部短縮/四肢近位短縮性四肢短縮 肋骨の異常

常染色体劣性遺伝

A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs) and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990.  >> 翻訳 (Google)

1007
(62.3%)

Becker nevus syndrome
----
Becker 母斑症候群

小肢症 陰嚢異常

A rare, syndromic, benign, epidemal nevus syndrome characterized by the association of a Becker nevus (i.e. circumscribed, unilateral, irregularly shaped, hyperpigmented macules, with or without hypertrichosis and/or acneiform lesions, occuring predominantly on the anterior upper trunk or scapular region) with ipsilateral breast hypoplasia or other, typically hypoplastic, skeletal, cutaneous, and/or muscular defects, such as pectoralis major hypoplasia, supernumerary nipples, vertebral defects, scoliosis, limb asymmetry, odontomaxillary hypoplasia and lipoatrophy.  >> 翻訳 (Google)

1007
(62.3%)

Monomelic amyotrophy

片側萎縮 筋虚弱

孤発性

Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms.  >> 翻訳 (Google)

1007
(62.3%)

Nevus of Ota
----
太田母斑

片側萎縮 緑内障

Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian and African populations, usually present at birth and characterized by a usually unilateral, bluish gray, patchy, speckled pigmentation (that may progressively enlarge and darken) affecting the skin of the face along the distribution of the ophthalmic and maxillary divisions of the trigeminal nerve (periorbital region, temple, forehead, malar area, nose). In 2/3 cases the ipsilateral sclera is affected. Nevus of Ota usually remains stable once adulthood is reached but an increased risk of glaucoma and uveal melanoma may be observed. Extracutaneous lesions may also occur in cornea, retina, tympanum, nasal mucosa, pharynx, palate. Nevus of Ota occurs as solitary conditions but seldom may occur together with the nevus of Ito or nevus spilus.  >> 翻訳 (Google)

1007
(62.3%)

Ollier disease
----
内軟骨腫症

小肢症 視力障害(霧視、かすみ目)

Enchondromatosis is a rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.  >> 翻訳 (Google)

1007
(62.3%)

Mixed germ cell tumor

尿閉 片側萎縮

1007
(62.3%)

Duchenne muscular dystrophy
----
筋ジストロフィー, Duchenne 型

片側萎縮 遺尿

X連鎖劣性遺伝

Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.  >> 翻訳 (Google)

1019
(62.3%)

Acrocapitofemoral dysplasia
----
肢端大腿骨頭異形成

大頭 小肢症 短い手掌

常染色体劣性遺伝

A rare skeletal dysplasi, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.  >> 翻訳 (Google)

1020
(62.2%)

Familial scaphocephaly syndrome, McGillivray type

下顎突出 合趾症 幅広い母趾趾骨 眼瞼裂斜上 高口蓋

常染色体優性遺伝

Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis (see this term) syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.  >> 翻訳 (Google)

1021
(62.2%)

Intellectual disability-myopathy-short stature-endocrine defect syndrome

口蓋の異常 眼瞼裂斜下 第5指弯指 頭蓋顔面過骨症

常染色体劣性遺伝

Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985.  >> 翻訳 (Google)

1021
(62.2%)

Allan-Herndon-Dudley syndrome

両側性単一手掌横線 屈指 眼瞼裂斜上 開口 頬骨未発達

X連鎖遺伝 X連鎖劣性遺伝 X連鎖優性遺伝

An X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.  >> 翻訳 (Google)

1021
(62.2%)

Classical Ehlers-Danlos syndrome

くも指 内眼角贅皮 舌の異常 頬突出

常染色体優性遺伝

Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility.  >> 翻訳 (Google)

1024
(62.2%)

Multiple myeloma
----
多発性骨髄腫

Rotator cuff tear 下顎痛 外反(眼瞼) 舌炎

常染色体劣性遺伝 体細胞突然変

Multiple myeloma (MM) is a malignant tumor of plasma cell characterized by overproduction of abnormal plasma cells in the bone marrow and skeletal destruction. The clinical features are bone pain, renal impairment, immunodeficiency, anemia and presence of abnormal immunoglobulins (Ig).  >> 翻訳 (Google)

1025
(62.1%)

Spondyloepimetaphyseal dysplasia with multiple dislocations

小肢症 平坦な頬 細い中手骨

常染色体優性遺伝

Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.  >> 翻訳 (Google)

1026
(62.1%)

47,XYY syndrome

Finger clinodactyly 平坦な頬 橈尺骨癒合

47, XYY syndrome is a sex chromosome aneuploidy where males receive an additional Y chromosome, and is characterized clinically by tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder.  >> 翻訳 (Google)

1027
(62.1%)

Deafness-small bowel diverticulosis-neuropathy syndrome

咽頭の異常 短い手掌

常染色体劣性遺伝

Deafness-small bowel diverticulosis-neuropathy syndrome is characterised by progressive sensorineural deafness, progressive sensory neuropathy and gastrointestinal abnormalities (progressive loss of gastric motility, small bowel diverticulosis).  >> 翻訳 (Google)

1027
(62.1%)

Marinesco-Sjögren syndrome

小頭 短い手掌

常染色体劣性遺伝

Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development.  >> 翻訳 (Google)

1027
(62.1%)

Proximal renal tubular acidosis
----
近位尿細管性アシドーシス

小さい手 小頭

常染色体優性遺伝 常染色体劣性遺伝

Proximal renal tubular acidosis (pRTA) is a tubular kidney disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.  >> 翻訳 (Google)

1030
(62.0%)

Paraplegia-intellectual disability-hyperkeratosis syndrome

円錐骨端 小顎 短指症候群 額傾斜

X連鎖遺伝 X連鎖劣性遺伝

A rare syndrome characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis.  >> 翻訳 (Google)

1031
(62.0%)

3q26 microduplication syndrome

分厚い眉毛 大きな頬 小顎

3q26 microduplication syndrome is a rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations.  >> 翻訳 (Google)

1032
(61.9%)

Hydranencephaly
----
水無脳症

合指趾症 小頭 正中口唇裂

A rare cerebral malformation characterized by an almost or complete lack of cortex, specifically the cerebral hemispheres, with the cranium and meninges completely intact. In most cases, death occurs in utero or in the first weeks of life. Developmental delay, drug-resistant seizures, spastic diplegia, severe growth failure, deafness and blindness are typical.  >> 翻訳 (Google)

1033
(61.9%)

Joubert syndrome with renal defect

口蓋裂 多指症 脳瘤 高位の弓形眉毛

常染色体劣性遺伝 Heterogeneous

Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.  >> 翻訳 (Google)

1033
(61.9%)

Joubert syndrome with ocular defect

口蓋裂 多指症 脳瘤 高位の弓形眉毛

Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy.  >> 翻訳 (Google)

1033
(61.9%)

Joubert syndrome with hepatic defect

口腔裂 大頭 軸後性多指症 高位の弓形眉毛

常染色体劣性遺伝 Heterogeneous

Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).  >> 翻訳 (Google)

1036
(61.9%)

Fuhrmann syndrome
----
腓骨無形成または低形成-大腿骨湾曲-多指症/合指症/乏指症

アザラシ肢 短指症候群

常染色体劣性遺伝

Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.  >> 翻訳 (Google)

1037
(61.9%)

Hypertrichosis-acromegaloid facial appearance syndrome

下口唇唇紅部外反 手の異常 歯肉過成長 眼瞼裂狭小

Hypertrichosis-acromegaloid facial appearance syndrome (HAFF) is a very rare multiple congenital abnormality syndrome manifesting from birth with progressive hypertrichosis congenita terminalis (thick scalp hair extending onto the forehead with generalized increased body hair) associated with a typical acromegaloid facial appearance (thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large philtrum, and prominent mouth with full lips) appearing during childhood. HAFF seems to belong to a spectrum of phenotypes with the clinically overlapping acromegaloid facial appearance syndrome and hypertrichotic osteochondrodysplasia, Cantù type (see these terms).  >> 翻訳 (Google)

1037
(61.9%)

Bathing suit ichthyosis

口唇外反 外反(眼瞼) 掌蹠過角化症

Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI; see this term) characterized by the presence of large dark scales in specific areas of the body.  >> 翻訳 (Google)

1039
(61.8%)

Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome

前頭突出, 額突出 小顎 眼窩縫合早期癒合

常染色体優性遺伝

Craniosynostosis, Dandy-Walker malformation and hydrocephalus is a malformation disorder characterized by sagittal craniosynostosis (see this term), Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay. The inheritance pattern appears to be autosomal dominant.  >> 翻訳 (Google)

1040
(61.7%)

Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome

短い趾 短指症候群 粗な顔貌

常染色体劣性遺伝

Retinitis pigmentosa - intellectual disability - deafness - hypogenitalism is an extremely rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome (see this term) by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993.  >> 翻訳 (Google)

1041
(61.7%)

8p23.1 duplication syndrome

合趾症 長い人中 高位の弓形眉毛

8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (incl. prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly).  >> 翻訳 (Google)

1042
(61.7%)

Prolidase deficiency
----
プロリダーゼ欠損症

くも指 低い前部毛髪線 外反膝 小顎 齲歯

常染色体劣性遺伝

Prolidase deficiency is an inherited disorder of peptide metabolism characterized by severe skin lesions, recurrent infections (involving mainly the skin and respiratory system), dysmorphic facial features, variable cognitive impairment, and splenomegaly.  >> 翻訳 (Google)

1043
(61.7%)

Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

下顎突出 分厚い下口唇唇紅部 眼瞼裂狭小

常染色体劣性遺伝

A rare syndrome characterised by the association of blepharophimosis and ptosis, V-esotropia, and weakness of extraocular and frontal muscles with syndactyly of the toes, short stature, prognathism, and hypertrophy and fusion of the eyebrows.  >> 翻訳 (Google)

1043
(61.7%)

Xq25 microduplication syndrome

下顎突出 内眼角贅皮 分厚い唇紅部縁 平坦な頬

1045
(61.7%)

Hypertelorism-microtia-facial clefting syndrome

二分した鼻尖 小頭 正中口唇口蓋裂 母指球筋萎縮

常染色体劣性遺伝

Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.  >> 翻訳 (Google)

1046
(61.6%)

Coats disease
----
Coats 病

アザラシ肢 網膜血管芽腫

Coats disease (CD) is an idiopathic disorder characterized by retinal telangiectasia with deposition of intraretinal or subretinal exudates, potentially leading to retinal detachment and unilateral blindness. CD is classically an isolated and unilateral condition affecting otherwise healthy young children.  >> 翻訳 (Google)

1047
(61.6%)

Maternal uniparental disomy of chromosome 1

大泉門閉鎖遅延 平坦な人中 手掌横線 骨端点状石灰化

Maternal uniparental disomy of chromosome 1 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)

1048
(61.6%)

DEND syndrome

Clinodactyly of the 4th finger 目立つ前頭縫合隆起 長い人中

DEND syndrome is a very rare, generally severe form of neonatal diabetes mellitus (NDM, see this term) characterized by a triad of developmental delay, epilepsy, and neonatal diabetes.  >> 翻訳 (Google)

1048
(61.6%)

Peripheral pulmonary stenosis

Clinodactyly of the thumb 卵形の顔 短頭 長い人中

Peripheral pulmonary stenosis is a rare congenital anomaly of the great arteries that may occur at single or multiple sites, in isolation or in association with other congenital heart defects (valvular pulmonary stenosis, atrial, or ventricular septal defects or tetralogy of Fallot) and genetic syndromes (Williams, Alagile syndrome). Clinical presentation is variable and includes heart murmurs, dyspnea, syncope, chest pain and pulmonary hypertension-associated symptoms.  >> 翻訳 (Google)

1048
(61.6%)

ALG13-CDG

内転母指 小頭 短い下顎 長い人中

X連鎖劣性遺伝 X連鎖優性遺伝

A form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatomegaly, edema of the extremities, intractable seizures, recurrent infections and increased bleeding tendency. The disease is caused by mutations in the gene ALG13 (Xq23).  >> 翻訳 (Google)

1048
(61.6%)

Autosomal recessive spondylocostal dysostosis

口蓋裂 小頭 屈指 腕長増加 長い人中

A rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.  >> 翻訳 (Google)

1052
(61.6%)

Proteus-like syndrome

下顎突出 反張膝 眼瞼裂斜下 開放咬合

Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease.  >> 翻訳 (Google)

1053
(61.6%)

Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome

下顎突出 内反膝 狭い口 眼瞼裂斜下

常染色体優性遺伝

A developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.  >> 翻訳 (Google)

1054
(61.5%)

Spondylometaphyseal dysplasia, Kozlowski type
----
脊椎骨幹端異形成

外反膝 歯状突起低形成 短指症候群 高い額

常染色体優性遺伝

Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.  >> 翻訳 (Google)

1055
(61.5%)

Pili torti-onychodysplasia syndrome

口蓋裂 唇裂 皮膚性合指症 睫毛欠損

A rare ectodermal dysplasia syndrome characterized by congenital onychodystrophy (particularly of the distal nail) and severe hypotrichosis with alopecia involving the eyebrows, eyelashes and body hair. Scalp, beard, pubic and axillary hair is brittle and shows a twisting pattern on electron microscopy. There have been no further descriptions in the literature since 1991.  >> 翻訳 (Google)

1056
(61.4%)

Camptodactyly-joint contractures-facial skeletal defects syndrome

小顎 屈指 狭い口

Camptodactyly-joint contractures-facial skeletal defects syndrome is characterised by the association of camptodactyly, multiple eye defects (fibrosis of the medial rectus muscle, severe myopia, ptosis and exophthalmos), scoliosis, flexion contractures and facial anomalies (arched eyebrows, facial asymmetry with an abnormal skull shape, a prominent nose, small mouth, low-set and dysplastic ears, and a low nuchal hairline).  >> 翻訳 (Google)

1056
(61.4%)

Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome

小顎 屈指 狭い口

Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome is characterised by a hypoplastic corpus callosum, microcephaly, severe intellectual deficit, preauricular skin tags, camptodactyly, growth retardation, and recurrent bronchopneumonia. It has been described in four patients in two families. Transmission is autosomal recessive.  >> 翻訳 (Google)

1056
(61.4%)

Congenital muscular dystrophy, Ullrich type

内転母指 口蓋の異常 小顎

Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence.  >> 翻訳 (Google)

1056
(61.4%)

Galloway-Mowat syndrome
----
ギャロウェイ・モワト症候群

内転母指 小顎 歯の異常

A rare syndrome characterized by the association of nephrotic syndrome and central nervous system anomalies.  >> 翻訳 (Google)

1056
(61.4%)

Growth delay due to insulin-like growth factor type 1 deficiency

口の異常 小顎 歯萌出遅延 第5指弯指

常染色体劣性遺伝

Growth delay due to insulin-like growth factor I deficiency is characterised by the association of intrauterine and postnatal growth retardation with sensorineural deafness and intellectual deficit.  >> 翻訳 (Google)

1056
(61.4%)

Rhombencephalosynapsis

小顎後退 狭い口 短い指骨

Rhombencephalosynapsis (RS) is a rare malformation of the cerebellum characterised by the association of agenesis (total or partial) of the vermis and fusion of the cerebellar hemispheres.  >> 翻訳 (Google)

1062
(61.3%)

Goldberg-Shprintzen megacolon syndrome

口蓋裂 合指症 小頭 疎な眉毛

常染色体劣性遺伝

A rare multiple congenital anomalies/dysmorphic syndrome characterized by Hirschsprung disease, facial dysmorphism (sloping forehead, high arched eyebrows, long eyelashes, telecanthus/hypertelorism, ptosis, prominent ears, thick earlobes, prominent nasal bridge, thick philtrum, everted lower lip vermillion and pointed chin), global developmental delay, intellectual disability and variable cerebral abnormalities (focal or generalized polymicrogyria, or hypoplastic corpus callosum).  >> 翻訳 (Google)

1063
(61.2%)

Macrocephaly-spastic paraplegia-dysmorphism syndrome

下顎突出 分厚い眉毛 大頭 薄い上口唇唇紅部

常染色体劣性遺伝

Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.  >> 翻訳 (Google)

1064
(61.2%)

Fibrodysplasia ossificans progressiva
----
進行性骨化性線維異形成 (FOP)

母趾趾骨無形成/低形成 短指症候群 開口障害 (牙関緊急)

常染色体優性遺伝

Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.  >> 翻訳 (Google)

1065
(61.1%)

Vascular Ehlers-Danlos syndrome
----
Ehlers-Danlos 症候群, 血管型

先天性股関節脱臼 内眼角贅皮 漏斗胸 薄い唇紅部縁

Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.  >> 翻訳 (Google)

1066
(61.1%)

Christianson syndrome

下顎突出 内転母指 分厚い眉毛 狭い顔

X連鎖優性遺伝

Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.  >> 翻訳 (Google)

1067
(61.1%)

Neutral lipid storage disease with ichthyosis

口唇外反 外反(眼瞼) 肩帯筋虚弱

常染色体劣性遺伝

1068
(61.1%)

McKusick-Kaufman syndrome
----
水子宮膣症候群

中手骨の異常 口蓋裂 短指症候群

常染色体劣性遺伝

McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.  >> 翻訳 (Google)

1069
(61.0%)

Fibular dimelia-diplopodia syndrome

脛骨欠損 顔の異常

Fibular dimelia-diplopodia syndrome is a rare developmental anomaly.  >> 翻訳 (Google)

1069
(61.0%)

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

幅広い鼻梁 第3趾骨無形成

常染色体優性遺伝 常染色体劣性遺伝

This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).  >> 翻訳 (Google)

1071
(60.9%)

Isolated brachycephaly

中手骨癒合 幅広い額 短指症候群 短頭

Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.  >> 翻訳 (Google)

1072
(60.9%)

Pseudodiastrophic dysplasia
----
偽変形性異形成

四肢近位短縮 平坦な頬 指趾骨脱臼

常染色体劣性遺伝

Pseudodiastrophic dysplasia is characterized by rhizomelic shortening of the limbs and severe clubfoot deformity, in association with elbow and proximal interphalangeal joint dislocations, platyspondyly, and scoliosis. It has been described in about 10 patients. An autosomal recessive inheritance has been suggested. Pseudodiastrophic dysplasia differs from diastrophic dysplasia (see this term) on the basis of clinical, radiographic, and histopathologic findings. Clubfoot can be treated by surgical therapy, and neonatal contractures and scoliosis can be relieved by physical therapy. Several of the reported patients died in the neonatal period or during infancy.  >> 翻訳 (Google)

1072
(60.9%)

IMAGe syndrome
----
胎内発育遅滞-精神遅滞-骨幹端異形成-副腎低形成-性器奇形

くも指 前頭突出, 額突出 小肢症

常染色体優性遺伝 常染色体劣性遺伝

IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.  >> 翻訳 (Google)

1072
(60.9%)

DYRK1A-related intellectual disability syndrome

くも指 狭い額 肢端四肢中部短縮

常染色体優性遺伝

1072
(60.9%)

Nephroblastoma
----
ウィルムス腫瘍1

片側萎縮 粗な顔貌 長い指

A rare malignant renal tumor, typically affecting the pediatric population, characterized by an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.  >> 翻訳 (Google)

1076
(60.9%)

Spondyloepimetaphyseal dysplasia, matrilin-3 type

四肢成長不全 平坦な顔

常染色体劣性遺伝

Spondyloepimetaphyseal dysplasia, matrilin-3 type is characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands.  >> 翻訳 (Google)

1076
(60.9%)

Thoracic dysplasia-hydrocephalus syndrome
----
胸郭異形成-水頭症症候群

四肢成長不全 落ちくぼんだ鼻梁

常染色体劣性遺伝

Thoracic dysplasia-hydrocephalus syndrome is an extremely rare primary bone dysplasia syndrome characterized by short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus, and developmental delay. There have been no further descriptions in the literature since 1987.  >> 翻訳 (Google)

1076
(60.9%)

Hemiparkinsonism-hemiatrophy syndrome

片側萎縮 片側顔面萎縮

Hemiparkinsonism-hemiatrophy syndrome is a rare parkinsonian disorder characterized by unilateral body atrophy and slowly progressive, ipsilateral, hemiparkinsonian signs (bradykinesia, rigidity, and tremor). Patients typically present with unilateral, action-induced dystonia, in upper or lower limbs, that progresses and becomes bilateral or with tremor which occurs predominantly at rest and progresses to hemiparkinsonism. Scoliosis, scapular winging, raised shoulders, brisk reflexes and extensor plantar responses are frequently associated.  >> 翻訳 (Google)

1076
(60.9%)

Recessive X-linked ichthyosis

四肢中部短縮 無嗅覚

X連鎖劣性遺伝 X連鎖優性遺伝

Recessive X-linked ichthyosis (RXLI) is a genodermatosis belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin.  >> 翻訳 (Google)

1076
(60.9%)

Mucopolysaccharidosis type 3

片側萎縮 頭蓋顔面過骨症

Mucopolysaccharidosis type III (MPS III) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses and characterised by severe and rapid intellectual deterioration.  >> 翻訳 (Google)

1076
(60.9%)

Superficial siderosis
----
脳表ヘモジデリン沈着症

無嗅覚 片側萎縮

Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria.  >> 翻訳 (Google)

1076
(60.9%)

Hemimegalencephaly
----
片側巨脳症

片側萎縮 顔面非対称

Hemimegalencephaly is a rare cerebral malformation characterized by overgrowth of all or part of a cerebral hemisphere, often with ipsilateral severe cortical dysplasia or dysgenesis, white matter hypertrophy and dilated lateral ventricle, presenting in early infancy with progressive hemiparesis, severe psychomotor retardation and intractable seizures. Hemimegalencephaly may be an isolated finding or associated with other syndromes such as angioosteohypertrophic syndrome, epidermal nevus syndrome and Ito hypomelanosis (see these terms). Management includes seizure control by antiepileptic medications and early hemispherectomy.  >> 翻訳 (Google)

1076
(60.9%)

Glioblastoma
----
神経膠芽腫

片側萎縮 顔面麻痺

Glioblastomas are malignant astrocytic tumors (grade IV according to the WHO classification).  >> 翻訳 (Google)

1084
(60.9%)

Orofaciodigital syndrome type 3

歯の異常 短い胸骨 軸後性多指症

常染色体劣性遺伝

Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit.  >> 翻訳 (Google)

1085
(60.8%)

Bloom syndrome
----
Bloom 症候群

副鼻腔炎 多指症 歯数の減少 number of teeth 結膜毛細血管拡張

常染色体劣性遺伝

Bloom syndrome is a rare disorder associated with pre- and postnatal growth deficiency, a telangiectatic erythematous rash of the face and other sun-exposed areas, insulin resistance and predisposition to early onset and recurrent cancer of multiple organ systems.  >> 翻訳 (Google)

1086
(60.8%)

Paternal uniparental disomy of chromosome 5

四肢近位短縮性腕短縮 後部斜頭 短い下肢

Paternal uniparental disomy of chromosome 5 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier.  >> 翻訳 (Google)

1087
(60.7%)

Cowden syndrome
----
カウデン症候群

大頭 巨舌 掌蹠過角化症 短指症候群 結膜過誤腫

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.  >> 翻訳 (Google)

1088
(60.7%)

Grant syndrome
----
Grant 症候群

口蓋の異常 小顎 長管骨湾曲

常染色体優性遺伝

Grant syndrome is a rare osteogenesis imperfecta-like disorder, described in two patients to date, characterized clinically by persistent wormian bones, blue sclera, mandibular hypoplasia, shallow glenoid fossa, and campomelia. There have been no further descriptions in the literature since 1986.  >> 翻訳 (Google)

1088
(60.7%)

Typical nemaline myopathy

外反膝 小顎 高口蓋

Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM; see this term) characterized by facial and skeletal muscle weakness and mild respiratory involvement.  >> 翻訳 (Google)

1088
(60.7%)

Menkes disease
----
Menkes 病

口蓋の異常 小顎 骨幹端の異常

X連鎖劣性遺伝

Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.  >> 翻訳 (Google)

1091
(60.6%)

Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome

両側性単一手掌横線 小顎 歯数の減少 number of teeth

常染色体優性遺伝

Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.  >> 翻訳 (Google)

1092
(60.6%)

Laurence-Moon syndrome
----
Laurence- Moon 症候群

内眼角贅皮 多指症 短指症候群 短頭

常染色体劣性遺伝

A very rare genetic multisystemic disorder characterized by pituitary dysfunction, ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinal dystrophy.  >> 翻訳 (Google)

1092
(60.6%)

Peters anomaly
----
Peters 奇形

両側性屈指 内眼角贅皮 小頭 短指症候群

Peters anomaly (PA) is a congenital corneal opacity disorder characterized by a central corneal leukoma that obstructs the pupil leading to visual loss as well as absence of the posterior corneal stroma and Descemet membrane.  >> 翻訳 (Google)

1094
(60.6%)

MEHMO syndrome
----
MEHMO 症候群

先細りの指 分厚い唇紅部縁 大きな頬 小頭

X連鎖劣性遺伝 ミトコンドリア遺伝

MEHMO syndrome is characterised by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism, and obesity. Growth delay and diabetes are also present. To date, it has been described in seven boys, all of whom died within the first two years of life. The causative gene has been localised to the 21.1-22.13p region of the X chromosome and the syndrome appears to result from mitochondrial dysfunction.  >> 翻訳 (Google)

1094
(60.6%)

Maternal uniparental disomy of chromosome X

外反肘 小頭 屈指 薄い唇紅部縁

A uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder.  >> 翻訳 (Google)

1096
(60.5%)

Camptodactyly syndrome, Guadalajara type 2

小頭 短い第2趾

常染色体劣性遺伝

Camptodactyly syndrome, Guadalajara type 2 is an extremely rare multiple congenital anomaly syndrome characterized by distinctive intrauterine growth retardation, skeletal dysplasia with multiple malformations including camptodactyly of all fingers, bilateral hallux valgus, short second, fourth and fifth toes, hypoplastic patella, microcephaly, low-set ears, short neck, cuboid-shaped vertebral bodies, pectus excavatum, hip dislocation, and hypoplastic pubic region and genitalia. Camptodactyly syndrome, Guadalajara type 2 has been described in two sisters and is most likely transmitted in an autosomal recessive manner. There have been no further descriptions in the literature since 1985.  >> 翻訳 (Google)

1096
(60.5%)

Symphalangism with multiple anomalies of hands and feet
----
指趾骨癒合-手足多発奇形

大頭 短い母趾末節骨 短指症候群

常染色体優性遺伝

Symphalangism with multiple anomalies of hands and feet is a rare, genetic, congenital limb malformation disorder characterized by bilateral symphalangism of hands and feet associated with cutaneous syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia of the thenar and hypothenar eminences. There have been no further descriptions in the literature since 1981.  >> 翻訳 (Google)

1098
(60.4%)

Apodia
----
無足症

小顎 舌癒着

1098
(60.4%)

Ectrodactyly-spina bifida-cardiopathy syndrome

口蓋の異常 小顎

1098
(60.4%)

Periodontal Ehlers-Danlos syndrome
----
Ehlers-Danlos 症候群, 歯周病型, 1

小顎 重度の歯周炎

Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.  >> 翻訳 (Google)