786
(66.2%)

mitochondrial complex V (ATP synthase) deficiency nuclear type 2
----
ミトコンドリア複合体V (ATP synthase) 欠乏症, 核型2

小顎後退 長い人中

常染色体劣性遺伝

A mitochondrial complex deficiency characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.  >> 翻訳 (Google)

786
(66.2%)

Gaucher disease perinatal lethal
----
Gaucher 病, 周生期致死性

上口唇唇紅部外反 小顎 狭い口

常染色体劣性遺伝

Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD).  >> 翻訳 (Google)

803
(66.2%)

SHORT syndrome
----
SHORT 症候群

内眼角外方偏位 小顎 拡大した骨端 指の橈側偏位 減歯症

常染色体優性遺伝

SHORT syndrome is a rare inherited condition of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, are manifestations of the disease.  >> 翻訳 (Google)

804
(66.2%)

X-linked spondyloepimetaphyseal dysplasia
----
脊椎骨端骨幹端異形成, X連鎖性

上顎低形成 短い手掌 短い鎖骨 長い尺骨

X連鎖劣性遺伝

X-linked form of spondyloepimetaphyseal dysplasia.  >> 翻訳 (Google)

805
(66.2%)

tricho-oculo-dermo-vertebral syndrome
----
関節拘縮症-外胚葉形成不全

上口唇裂 手関節拘縮 眼瞼裂狭小 短頭

常染色体劣性遺伝

806
(66.1%)

wrinkly skin syndrome
----
皺の多い皮膚症候群

内眼角贅皮 小頭 平坦な人中 深い手掌屈曲線 細い長管骨

常染色体劣性遺伝

Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).  >> 翻訳 (Google)

807
(66.1%)

chromosome 10q23 deletion syndrome
----
10q23 欠失症候群

くも指 大頭 眼瞼裂斜上 薄い上口唇唇紅部

連続遺伝子症候群

10q22.3q23.3 microdeletion syndrome is a rare partial autosomal monosomy characterized by a mild facial dysmorphism variably including macrocephaly, broad forehead, hypertelorism or hypotelorism, deep-set eyes, upslanting or downslanting palpebral fissures, low-set ears, flat nasal bridge, smooth philtrum, thin upper lip), cleft palate, cerebellar and cardiac malformations, psychomotor development delay, and behavioral abnormalities (attention deficit hyperactivity disorder, autism). Other rare features may include congenital breast aplasia, arachnodactyly, joint hyperlaxity, club feet, feeding difficulties, failure to thrive.  >> 翻訳 (Google)

807
(66.1%)

progeroid facial appearance with hand anomalies
----
早老顔貌-手奇形

くも指 小頭 眼瞼裂狭小 短い人中

常染色体優性遺伝

807
(66.1%)

syndactyly-telecanthus-anogenital and renal malformations syndrome
----
合趾-内眼角外方偏位-肛門性器および腎奇形 (STAR)

Craniosynostosis 内眼角外方偏位 第5指弯指 薄い上口唇唇紅部

X連鎖優性遺伝

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

807
(66.1%)

Fanconi anemia, complementation group S
----
Fanconi 貧血, 相補性S群

内眼角贅皮 分厚い上口唇唇紅部 小頭 近位母指

常染色体劣性遺伝

807
(66.1%)

Ehlers-Danlos syndrome, musculocontractural type 2
----
Ehlers-Danlos 症候群, 筋拘縮型2

くも指 眼瞼裂斜下 短頭 長い人中

常染色体劣性遺伝

Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene.  >> 翻訳 (Google)

807
(66.1%)

microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
----
精神遅滞, 常染色体優性36

テント状上口唇唇紅部 小頭 眼瞼裂斜下 第5指偏位

常染色体優性遺伝

807
(66.1%)

neurodevelopmental disorder with cerebellar atrophy and with or without seizures
----
神経発達障害-小脳萎縮+/-けいれん

内眼角贅皮 小頭 第5指弯指 長い人中

常染色体劣性遺伝

807
(66.1%)

KBG syndrome
----
KBG 症候群

内眼角外方偏位 小頭 手掌横線 指の橈側偏位 長い人中

常染色体優性遺伝

KBG syndrome is a rare condition characterised by a typical facial dysmorphism, macrodontia of the upper central incisors, skeletal (mainly costovertebral) anomalies and developmental delay.  >> 翻訳 (Google)

807
(66.1%)

neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
----
神経発達障害-失調歩行-表出言語欠損-大脳皮質白質減少

テント状上口唇唇紅部 先細りの指 小頭 手掌横線 眼瞼裂斜上

常染色体優性遺伝

807
(66.1%)

Pitt-Hopkins syndrome
----
Pitt-Hopkins 症候群 (PTHS)

先細りの指 小頭 手掌横線 眼瞼裂斜上 短い人中

常染色体優性遺伝

Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.  >> 翻訳 (Google)

807
(66.1%)

hypotonia, infantile, with psychomotor retardation and characteristic facies 2
----
筋緊張低下, 乳児-精神運動発達遅滞-特異顔貌2

先細りの指 内眼角贅皮 短頭 薄い上口唇唇紅部

常染色体劣性遺伝

Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene.  >> 翻訳 (Google)

807
(66.1%)

macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
----
Takenouchi-Kosaki 症候群

先細りの指 眼瞼裂斜下 薄い上口唇唇紅部 進行性小頭

常染色体優性遺伝

819
(66.1%)

holoprosencephaly 9
----
全前脳症9

上顎低形成 両側性口唇口蓋裂 平坦な頬 軸後性多指症

常染色体優性遺伝 孤発性

Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene.  >> 翻訳 (Google)

820
(66.1%)

RHYNS syndrome
----
RHYNS 症候群

分厚い頭蓋冠 橈側湾曲 短い大腿骨頸部 短指症候群

常染色体劣性遺伝

RHYNS syndrome is characterised by the association of retinitis pigmentosa, hypopituitarism, nephronophthisis, and skeletal dysplasia.  >> 翻訳 (Google)

821
(66.1%)

MEND syndrome
----
MEND 症候群

小顎後退 指の重なり 高口蓋

X連鎖劣性遺伝

822
(66.1%)

ophthalmomandibulomelic dysplasia
----
眼下顎四肢異形成

側頭骨下顎関節強直 橈側湾曲 腓骨低形成

常染色体優性遺伝

Ophthalmomandibulomelic dysplasia is characterized by complete blindness due to corneal opacities, difficult mastication due to temporomandibular fusion and anomalies of the arms.  >> 翻訳 (Google)

823
(66.0%)

schneckenbecken dysplasia
----
蝸牛様骨盤異形成

ダンベル型長管骨 口蓋裂 短い肋骨 短指症候群

常染色体劣性遺伝

Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.  >> 翻訳 (Google)

823
(66.0%)

spondyloepimetaphyseal dysplasia, Strudwick type
----
脊椎骨端骨幹端異形成, 先天性, Strudwick 型

口蓋裂 外反膝 歯状突起低形成 短指症候群

常染色体優性遺伝

Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).  >> 翻訳 (Google)

825
(66.0%)

craniofaciofrontodigital syndrome
----
頭蓋顔心骨格異形成

掌蹠弛緩性皮膚 椎体骨低形成 粗な顔貌 長い人中

常染色体優性遺伝 孤発性

Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).  >> 翻訳 (Google)

826
(66.0%)

Toriello-Lacassie-Droste syndrome
----
眼外胚葉症候群

下肢非対称 内眼角贅皮 眼瞼裂 頭頂突出

常染色体優性遺伝 体細胞突然変

Oculo-ectodermal syndrome (OES) is characterized by the association of epibulbar dermoids and aplasia cutis congenital.  >> 翻訳 (Google)

827
(65.9%)

Smith-McCort dysplasia 2
----
Smith-McCort 異形成 2

歯状突起低形成 短い中手骨 短い中足骨 短い頸部

常染色体劣性遺伝

Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene.  >> 翻訳 (Google)

828
(65.9%)

microcephaly 16, primary, autosomal recessive
----
小頭症16, 原発性, 常染色体劣性

内眼角外方偏位 内転母指 小顎 開口

常染色体劣性遺伝

828
(65.9%)

Seckel syndrome 5
----
Seckel 症候群 5

小顎 眼瞼裂斜下 第5指弯指 高口蓋

常染色体劣性遺伝

Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene.  >> 翻訳 (Google)

828
(65.9%)

cutis laxa, autosomal recessive, type 1B
----
弛緩性皮膚, 常染色体優性 IB 型

くも指 小顎 眼瞼裂斜下 高口蓋

常染色体劣性遺伝

An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13.  >> 翻訳 (Google)

828
(65.9%)

Warburg micro syndrome 3
----
Warburg マイクロ症候群 3

小顎 狭い口蓋 眼瞼裂狭小 第5指弯指

常染色体劣性遺伝

Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene.  >> 翻訳 (Google)

828
(65.9%)

Galloway-Mowat syndrome 3
----
Galloway-Mowat 症候群3

くも指 内眼角贅皮 小顎 狭い口

常染色体劣性遺伝

828
(65.9%)

Marfan syndrome
----
Marfan 症候群(MFS)

くも指 小顎 狭い口蓋 眼瞼裂斜下

常染色体優性遺伝

Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). It is caused by mutations in the FBN1 gene, which provides instructions for making a protein called fibrillin-1. Marfan syndrome is inherited in an autosomal dominant pattern. At least 25% of cases are due to a new (de novo) mutation. Treatment is based on the signs and symptoms in each person.  >> 翻訳 (Google)

834
(65.8%)

multicentric osteolysis, nodulosis, and arthropathy
----
多中心性骨融解-結節症-関節症

小顎 幅広い中手骨軸 指間(IP)関節びらん 歯肉過成長

常染色体劣性遺伝

A rare, autosomal recessive inherited syndrome caused by mutations in the MMP2 gene. It is characterized by the presence of multiple, painless subcutaneous nodules, osteolysis particularly in the hands and feet, osteoporosis, and arthropathy.  >> 翻訳 (Google)

835
(65.7%)

humerofemoral hypoplasia with radiotibial ray deficiency
----
上腕骨大腿骨低形成-橈脛骨側指放線欠損

母指欠損 目立つ眉間 肩甲骨低形成

常染色体劣性遺伝

836
(65.7%)

brachydactyly, type E, with atrial septal defect, type 2
----
E 型短指症- II 型心房中隔欠損

丸い顔 短い中足骨 短い第4中手骨

常染色体優性遺伝

836
(65.7%)

chondrodysplasia punctata, tibial-metacarpal type
----
点状軟骨異形成, 脛骨-中手骨型

小肢症 平坦な頬 短い第2中手骨 短い脛骨

常染色体優性遺伝

838
(65.7%)

Silverman-Handmaker type dyssegmental dysplasia
----
分節異常性異形成, Silverman-Handmaker 型

小顎 狭い口 短い長管骨

常染色体劣性遺伝

Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.  >> 翻訳 (Google)

839
(65.7%)

epiphyseal dysplasia, multiple, 2
----
骨端異形成, 多発性, 2

よたつき歩行 短い手掌

常染色体優性遺伝

Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A2 gene.  >> 翻訳 (Google)

839
(65.7%)

Lopes-Maciel-Rodan syndrome
----
Lopez-Maciel-Rodan 症候群

小さい手 短い足 近視

常染色体劣性遺伝

839
(65.7%)

hereditary spastic paraplegia 9A
----
痙性対麻痺 9A, 常染色体優性

尿意切迫 手根骨低形成

常染色体優性遺伝 表現促進

842
(65.7%)

pycnodysostosis
----
濃縮異骨症 (PKND; PYCD)

小顎 手の末節骨のの骨融解病変 狭い口蓋 短指症候群

常染色体劣性遺伝

Pycnodysostosis is a genetic lysosomal disease characterized by short stature, increased density of the bones (osteosclerosis/osteopetrosis), and brittle bones. Other features may include underdevelopment of the tips of the fingers with absent or small nails, an abnormal collarbone (clavicle), distinctive facial features including a large head with a small face and chin, underdeveloped facial bones, a high forehead, and dental abnormalities.Pycnodysostosis is an autosomal recessive condition caused by mutations in the gene that codes the enzyme cathepsin K (CTSK) on chromosome 1q21. The diagnosis of pycnodysostosis is based on physical features and X-ray findings. Molecular genetic testing is available. Treatment should address the symptoms found in each patient and may include orthopedic monitoring, treatment of fractures, appropriate dental care, and craniofacial surgery.  >> 翻訳 (Google)

843
(65.7%)

frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome
----
前頭鼻異形成3

上眼瞼コロボーマ 口蓋裂 短頭

常染色体劣性遺伝

844
(65.6%)

trichohepatoneurodevelopmental syndrome
----
毛髪肝神経発達障害症候群

巨舌 短い足 連続眉毛

常染色体劣性遺伝

845
(65.5%)

neurofibromatosis-Noonan syndrome
----
神経線維腫症-Noonan 症候群

内眼角贅皮 分厚い唇紅部縁 外反肘 平坦な頬

常染色体優性遺伝

Neurofibromatosis-Noonan syndrome (NFNS) is a RASopathy and a variant of neurofibromatosis type 1 (NF1) characterized by the combination of features of NF1, such as cafC)-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, optic nerve glioma and multiple neurofibromas; and Noonan syndrome (NS), such as short stature, typical facial features (hypertelorism, ptosis, downslanting palpebral fissures, low-set posteriorly rotated ears with a thickened helix, and a broad forehead), congenital heart defects and unusual pectus deformity. As these three entities have significant phenotypic overlap, molecular genetic testing is often necessary for a correct diagnosis (such as when cafC)-au-lait spots are present in patients diagnosed with NS).  >> 翻訳 (Google)

846
(65.5%)

mesomelic dwarfism, Nievergelt type
----
Nievergelt 症候群

中足骨癒合症 四肢中部短縮 橈尺骨癒合

常染色体優性遺伝

847
(65.5%)

hypophosphatemia, renal, with intracerebral calcifications
----
腎性低リン酸血症-脳内石灰化

早発性大泉門閉鎖 短い指末節骨

常染色体劣性遺伝

847
(65.5%)

craniosynostosis, Adelaide type
----
頭蓋骨縫合早期癒合, Adelaide 型

Craniosynostosis 指の全中節骨の短縮

常染色体優性遺伝

847
(65.5%)

brachydactyly, type A2, with microcephaly
----
短指症 A2 型-小頭

小頭 球状の先端を伴う母指低形成

常染色体劣性遺伝

847
(65.5%)

Feingold syndrome type 2
----
Feingold 症候群 2

小頭 短い指中節骨

常染色体優性遺伝

Feingold syndrome type 2 (FS2) is a rare inherited malformation syndrome characterized by skeletal abnormalities and mild intellectual disabilities similar to those seen in Feingold syndrome type 1 (FS1) but that lacks the manifestations of gastrointestinal atresia and short palpebral fissures.  >> 翻訳 (Google)

847
(65.5%)

bullous dystrophy, macular type
----
水泡性ジストロフィー 遺伝性斑型

小頭 短い指

X連鎖遺伝

Bullous dystrophy, macular type is a genetic disorder characterised by formation of bullae without traumatic origin, alopecia, hyperpigmentation, acrocyanosis, short stature, microcephaly, intellectual deficit, tapering fingers and nail abnormalities. Two families (one of whom was Dutch and the other Italian) have been described up to now, in which only males were affected. Transmission is X-linked recessive. The bullous dystrophy locus has been mapped to Xq26.3 in the Italian family and to Xq27.3 in the Dutch family.  >> 翻訳 (Google)

847
(65.5%)

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

大頭 短い母指

常染色体優性遺伝

Symphalangism with multiple anomalies of hands and feet is an exceedingly rare syndrome described in one family and characterized by proximal symphalangism and multiple hand and feet disorders (syndactyly, clinodactyly, hypoplasia of the thenar and hypothenar eminences, and a distinctive dermatoglyphic pattern). There have been no further descriptions in the literature since 1981.  >> 翻訳 (Google)

847
(65.5%)

Fanconi anemia complementation group D1
----
Fanconi 貧血, 相補群 D1 (FANCD1; FAD1)

小頭 短い母指

常染色体劣性遺伝

Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations is a rare cancer-predisposing syndrome, associated with the D1 subgroup of Fanconi anemia (FA), characterized by progressive bone marrow failure, cardiac, brain, intestinal or skeletal abnormalities and predisposition to various malignancies. Bone marrow suppression and the incidence of developmental abnormalities are less frequent than in other FA, but cancer risk is very high with the spectrum of childhood cancers including Wilms tumor, brain tumor (often medulloblastoma) and ALL/AML.  >> 翻訳 (Google)

847
(65.5%)

facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
----
Dandy-Walker 奇形-精神遅滞-巨頭-近視-短末節骨

大頭 指の全末節骨の短縮

常染色体劣性遺伝

Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome is characterised by Dandy-Walker malformation, severe intellectual deficit, macrocephaly, brachytelephalangy, facial dysmorphism and severe myopia. Three cases have been described. Transmission appears to be autosomal recessive.  >> 翻訳 (Google)

855
(65.4%)

Schwartz-Jampel syndrome
----
Schwartz-Jampel 症候群 I 型 (SJS1)

小顎 手関節拘縮 狭い口 眼瞼裂狭小 骨幹端拡大

常染色体劣性遺伝

Schwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities.  >> 翻訳 (Google)

855
(65.4%)

peroxisome biogenesis disorder 1A (Zellweger)
----
ペルオキシソーム生合成異常症1A (Zellweger)

内眼角贅皮 小顎 巨舌 手掌横線 骨端点状石灰化

常染色体劣性遺伝 Heterogeneous

857
(65.4%)

microcephaly 13, primary, autosomal recessive
----
小頭症13, 原発性常染色体劣性

丸い顔 小さい手 小顎

常染色体劣性遺伝

Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene.  >> 翻訳 (Google)

858
(65.4%)

acrocephalopolydactyly
----
尖頭多指異形成

内眼角贅皮 小肢症 軸後性多指症

常染色体劣性遺伝

Acrocephalopolydactyly, also known as Elejalde syndrome, is an extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.  >> 翻訳 (Google)

859
(65.4%)

colobomatous microphthalmia-rhizomelic dysplasia syndrome
----
小眼球/コロボーマ-骨格異形成症候群

内眼角贅皮 四肢近位短縮

常染色体優性遺伝 常染色体劣性遺伝

Colobomatous microphthalmia-rhizomelic dysplasia syndrome is a rare, genetic developmental defect during embryogenesis characterized by a range of developmental eye anomalies (including anophthalmia, microphthalmia, colobomas, microcornea, corectopia, cataract) and symmetric limb rhizomelia with short stature and contractures of large joints. Intellectual disability with autistic features, macrocephaly, dysmorphic features, urogenital anomalies (hypospadia, cryptorchidism), cutaneous syndactyly and precocious puberty may also be present.  >> 翻訳 (Google)

859
(65.4%)

chondrodysplasia punctata 2, X-linked dominant
----
点状軟骨異形成 2, X連鎖優性 (CDPX2)

平坦な頬 片側萎縮 眼瞼裂斜下

X連鎖優性遺伝

861
(65.4%)

Prieto syndrome
----
Prieto X連鎖性精神遅滞症候群

11 対肋骨 内眼角贅皮 指の橈側偏位 歯の異常

X連鎖劣性遺伝

This syndrome is characterised by intellectual deficit associated with facial dysmorphism, patella luxation, and abnormal growth of the teeth.  >> 翻訳 (Google)

862
(65.4%)

neurodevelopmental disorder and language delay with or without structural brain abnormalities

内眼角贅皮 小頭 手掌横線 短い人中

常染色体優性遺伝

862
(65.4%)

autism spectrum disorder due to AUTS2 deficiency
----
精神遅滞, 常染色体優性26

手掌屈曲線減少 眼瞼裂斜下 短い人中 短頭

常染色体優性遺伝

Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.  >> 翻訳 (Google)

862
(65.4%)

Teebi-Shaltout syndrome
----
Teebi-Shaltout 症候群

内眼角外方偏位 小頭 平坦な人中 手掌横線

常染色体劣性遺伝

Teebi-Shaltout syndrome is a rare, genetic, development defect during embryogenesis malformation syndrome characterized by association of characteristic facial features (including abnormal head shape with narrow forehead, hypertelorism, telecanthus, small earlobes, broad nasal bridge and tip, underdeveloped ala nasi, small/wide mouth and high/cleft palate), ectodermal dysplasia (including oligodontia with delayed dentition, slow growing hair and reduced sweating) and skeletal abnormalities including camptodactyly and caudal appendage. Short stature and abnormal palmar creases are additional clinical features.  >> 翻訳 (Google)

865
(65.4%)

spondyloepimetaphyseal dysplasia, matrilin-3 type
----
脊椎骨端骨幹端異形成, matrilin-3 関連

小肢症 後部肋骨カッピング 短い長管骨

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)

866
(65.3%)

hereditary spastic paraplegia 50
----
痙性対麻痺50, 常染色体劣性

下顎突出 内転母指 幅広い口 短い人中

常染色体劣性遺伝

Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene.  >> 翻訳 (Google)

866
(65.3%)

syndromic X-linked intellectual disability Snyder type
----
精神遅滞, X連鎖性, 症候群性, Snyder-Robinson 型

下顎突出 口蓋裂 指関節過伸展 短い人中

X連鎖劣性遺伝

Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome, including also hypotonia, an unsteady gait, osteoporosis, kyphoscoliosis and facial asymmetry. Severe generalized psychomotor evolving to moderate to profound global intellectual disability is also observed.  >> 翻訳 (Google)

868
(65.3%)

cardiac anomalies - developmental delay - facial dysmorphism syndrome
----
精神遅滞-特異顔貌+/-心奇形

Clinodactyly 下口唇唇紅部外反 眼瞼裂斜上 短頭

常染色体優性遺伝

869
(65.3%)

heart and brain malformation syndrome
----
心および脳奇形症候群

分厚い下口唇唇紅部 小頭 握り手

常染色体劣性遺伝

870
(65.2%)

chromosome 1q41-q42 deletion syndrome
----
1q41-q42 欠失症候群

上口唇裂 内反尖足 小頭 眼瞼裂斜上

常染色体優性遺伝 孤発性

1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.  >> 翻訳 (Google)

871
(65.2%)

microcephaly-deafness-intellectual disability syndrome
----
小頭-難聴症候群

下口唇唇紅部外反 小顎

常染色体優性遺伝

Microcephaly-deafness-intellectual disability syndrome is characterised by microcephaly, deafness, intellectual deficit and facial dysmorphism (facial asymmetry, prominent glabella, low-set and cup-shaped ears, protruding lower lip, micrognathia). It has been described in a mother and her son. The mode of inheritance is probably autosomal dominant.  >> 翻訳 (Google)

871
(65.2%)

Meier-Gorlin syndrome 8
----
Meier-Gorlin 症候群8

分厚い唇紅部縁 小顎 狭い口

常染色体劣性遺伝

871
(65.2%)

Hurler-Scheie syndrome
----
Hurler-Scheie 症候群

分厚い唇紅部縁 小顎 落ちくぼんだ鼻梁

常染色体劣性遺伝

Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.  >> 翻訳 (Google)

871
(65.2%)

ALG1-CDG
----
先天性グリコシル化異常症 Ik 型 (CDG1K)

小顎 薄い唇紅部縁

常染色体劣性遺伝

A severe form of congenital disorders of N-linked glycosylation characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly. Additional features include altered blood coagulation with a high probability of hemorrhages or thromboses, nephrotic syndrome, ascites, hepatomegaly, cardiomyopathy, ocular manifestations (strabismus, nystagmus), and immunodeficiency. The disease is caused by loss-of-function mutations in the gene ALG1 (16p13.3).  >> 翻訳 (Google)

871
(65.2%)

muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
----
筋ジストロフィー-ジストログリカン症 (先天性, 脳眼奇形), A型, 3 (MDDGA3)

下口唇唇紅部外反 小顎

常染色体劣性遺伝 Heterogeneous

An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.  >> 翻訳 (Google)

876
(65.2%)

aspartylglucosaminuria
----
アスパルチルグルコサミン尿 (AGU)

分厚い下口唇唇紅部 前頭洞低形成 幅広い口

常染色体劣性遺伝

Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).  >> 翻訳 (Google)

877
(65.2%)

osteogenesis imperfecta, type 18
----
骨形成不全症, XVIII 型

大腿骨弯曲 小顎 歯の異常 長い睫毛

常染色体劣性遺伝

Osteogenesis imperfecta type XVIII (OI18) is characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life ({1:Doyard et al., 2018}).  >> 翻訳 (Google)

877
(65.2%)

peroxisome biogenesis disorder 10A (Zellweger)
----
ペルオキシソーム生合成異常症10A (Zellweger)

内眼角贅皮 小顎 骨端点状石灰化 高口蓋

常染色体劣性遺伝

877
(65.2%)

bone marrow failure syndrome 3
----
骨髄不全症候群3

内眼角贅皮 小顎 減歯症 骨幹端異形成

常染色体劣性遺伝

Any bone marrow failure syndrome in which the cause of the disease is a mutation in the DNAJC21 gene.  >> 翻訳 (Google)

880
(65.2%)

mandibulofacial dysostosis with ptosis, autosomal dominant
----
下顎顔異骨症-眼瞼下垂, 常染色体優性

不正咬合 小顎 手関節拘縮 眼瞼裂斜下

常染色体優性遺伝

881
(65.2%)

craniometadiaphyseal dysplasia, wormian bone type
----
頭蓋骨幹端骨幹異形成

副鼻腔欠損 外反膝 眼瞼裂斜下 高口蓋

常染色体劣性遺伝

Craniometadiaphyseal dysplasia, wormian bone type is an extremely rare craniotubular bone dysplasia syndrome described in fewer than 10 patients to date. Clinical manifestations include macrocephaly, frontal bossing, malar hypoplasia, prominent mandible and dental hypoplasia. Other skeletal anomalies include abnormal bone modeling in tubular bones, multiple wormian bones and deformities of chest, pelvis and elbows. An increased risk of fractures is noted.  >> 翻訳 (Google)

882
(65.1%)

Smith-McCort dysplasia 1
----
Smith-McCort 異形成 1

小頭 短い中手骨 肩甲骨低形成

常染色体劣性遺伝

Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene.  >> 翻訳 (Google)

883
(65.1%)

autosomal dominant primary microcephaly
----
小頭症, 常染色体優性

オーバーバイト 小頭 幅広い母指 眼瞼裂斜上

常染色体優性遺伝

Autosomal dominant form of microcephaly (disease).  >> 翻訳 (Google)

883
(65.1%)

hypertelorism-hypospadias-polysyndactyly syndrome
----
肢端前頭顔鼻異骨症, 重症型

多指症 幅広い母指 眼瞼裂斜下 短頭 高口蓋

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)

885
(65.1%)

Ito hypomelanosis
----
低色素症, 伊藤

内眼角贅皮 分厚い下口唇唇紅部 多指症 小頭

Heterogeneous 体細胞モザイク

Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines.  >> 翻訳 (Google)

885
(65.1%)

severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
----
Bainbridge-Ropers 症候群

くも指 下口唇唇紅部外反 小頭 眼瞼裂斜下

常染色体優性遺伝

887
(65.0%)

short stature-valvular heart disease-characteristic facies syndrome
----
不均衡型低身長-眼瞼下垂-心臓弁膜症

歯の異常 短い下肢 短い手掌

常染色体優性遺伝

Short stature-valvular heart disease-characteristic facies syndrome is characterised by severe short stature with disproportionately short legs, small hands, clinodactyly, valvular heart disease and dysmorphism (ptosis, high-arched palate, abnormal dentition). It has been described in a mother and two daughters. This syndrome is probably transmitted as an autosomal dominant trait.  >> 翻訳 (Google)

888
(65.0%)

Boomerang dysplasia
----
ブーメラン型異形成

橈骨欠損 腓骨無形成 鼻翼未発達

常染色体優性遺伝

Boomerang dysplasia (BD) is a rare lethal skeletal dysplasia characterized by severe short-limbed dwarfism, dislocated joints, club feet, distinctive facies and diagnostic x-ray findings of underossified and dysplastic long tubular bones, with a boomerang-like bowing.  >> 翻訳 (Google)

888
(65.0%)

laurin-Sandrow syndrome
----
Laurin-Sandrow 症候群 (LSS)

橈骨欠損 短い足 顔の異常

常染色体優性遺伝

Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.  >> 翻訳 (Google)

890
(64.9%)

chromosome 15q25 deletion syndrome
----
15q25 欠失症候群

上口唇裂 眼瞼裂斜下 短い頸部 長い指

常染色体優性遺伝

891
(64.9%)

Jaberi-Elahi syndrome
----
Jaberi-Elahi 症候群

小頭 握り手 歯の異常 疎な睫毛

常染色体劣性遺伝

891
(64.9%)

Alkuraya-Kucinskas syndrome
----
Alkiraya-Kucinskas 症候群

内転母指 大頭 握り手 眼瞼裂斜上 高口蓋

常染色体劣性遺伝

893
(64.9%)

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

手根骨低形成 歯状突起低形成 顔の異常

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)

894
(64.9%)

RIN2 syndrome
----
MACS 症候群

分厚い下口唇唇紅部 手掌横線 眼瞼裂斜下 短指症候群 胸骨の異常

常染色体劣性遺伝

RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly have also been reported.  >> 翻訳 (Google)

895
(64.9%)

hypochondroplasia
----
軟骨低形成症

四肢無形成/低形成 平坦な頬 短い長管骨 短指症候群

常染色体優性遺伝

Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.  >> 翻訳 (Google)

896
(64.9%)

floating-Harbor syndrome
----
Floating-Harbor 症候群

平坦な人中 指の指骨のの円錐骨端 短い頸部 第5指弯指 長い睫毛

常染色体優性遺伝

Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.  >> 翻訳 (Google)

897
(64.9%)

facial hemiatrophy
----
片側顔面萎縮, 進行性

歯萌出遅延 眼瞼裂狭小 短い下顎枝

孤発性

Progressive hemifacial atrophy (PHA) is a rare acquired disorder, characterized by unilateral slowly progressive atrophy of the skin and soft tissues of half of the face leading to a sunken appearance. Muscles, cartilage and the underlying bony structures may also be involved.  >> 翻訳 (Google)

897
(64.9%)

blepharophimosis - intellectual disability syndrome, SBBYS type
----
Ohdo 症候群, SBBYS バリアント (SBBYSS)

小歯 小顎 逆内眼角贅皮

常染色体優性遺伝

Blepharophimosis-intellectual disability syndrome, SBBYS type is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested.  >> 翻訳 (Google)

897
(64.9%)

myopathy, lactic acidosis, and sideroblastic anemia 1
----
ミオパチー-乳酸性アシドーシス- 鉄芽球性貧血1

二重睫毛 小顎 高口蓋

常染色体劣性遺伝

Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause of the disease is a mutation in the PUS1 gene.  >> 翻訳 (Google)

897
(64.9%)

chromosome 22q11.2 microduplication syndrome
----
22q11.2 重複症候群

内眼角贅皮 小顎 高口蓋

常染色体優性遺伝 孤発性

The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication syndrome.  >> 翻訳 (Google)