689
(67.7%)

epiphyseal dysplasia, Baumann type
----
骨端異形成, Baumann 型

中手骨無形成 手根骨無形成 関節指間

常染色体劣性遺伝

689
(67.7%)

multiple epiphyseal dysplasia type 1
----
骨端異形成, 多発性, 1 (MED1)

短い中手骨 関節拘縮

常染色体優性遺伝 Heterogeneous

Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.  >> 翻訳 (Google)

703
(67.6%)

mucopolysaccharidosis type 7
----
ムコ多糖症 VII

中手骨の近位の先細り 分厚い眉毛 歯状突起低形成 歯肉過成長

常染色体劣性遺伝

Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses.  >> 翻訳 (Google)

704
(67.6%)

dyssegmental dysplasia-glaucoma syndrome
----
分節異常性異形成-緑内障

口蓋裂 小肢症 短い長管骨

常染色体劣性遺伝

This syndrome is characterised by Kniest dysplasia, spine abnormalities and severe dwarfism. Glaucoma has also been reported. The syndrome has been described in two unrelated children.  >> 翻訳 (Google)

705
(67.6%)

mesomelic dwarfism-cleft palate-camptodactyly syndrome
----
四肢中部短縮および湾曲

口蓋裂 四肢中部短縮性下肢短縮 小顎 屈指

常染色体劣性遺伝

Mesomelic dwarfism-cleft palate-camptodactyly syndrome is characterised by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. It has been described in a brother and sister born to consanguineous parents. Transmission is autosomal recessive.  >> 翻訳 (Google)

706
(67.6%)

microphthalmia, syndromic 1
----
小眼球, 症候群性 1

上口唇裂 口腔裂 指の橈側偏位 短い鎖骨

X連鎖遺伝

707
(67.6%)

microcephalic osteodysplastic primordial dwarfism, type 3
----
小頭骨異形成原発性小人症 III

分厚い上口唇唇紅部 大腿骨骨頭骨端低形成 小顎 第5指弯指

常染色体劣性遺伝

708
(67.6%)

distal arthrogryposis type 5D
----
関節拘縮症, 遠位, 5D型

内転母指 口蓋裂 小顎 高位の弓形眉毛

常染色体劣性遺伝

Distal arthrogryposis type 5D is a rare subtype of distal arthrogryposis syndrome characterized by arthrogryposis multiplex congenita affecting the hands, feet, ankle, shoulders and/or neck, with camptodactyly of the fingers and limited knee and hip extension, associated with asymmetric ptosis and, less frequently, other ocular manifestations (e.g. ophthalmoplegia, strabismus). Affected individuals frequently have a bulbous nose, furrowed tongue, micro/retrognathia, a short neck, congenital hip dislocation, club feet, scoliosis and short stature.  >> 翻訳 (Google)

709
(67.5%)

short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
----
低身長, 四肢近位短縮性-小頭-小顎-発達遅滞

口蓋裂 四肢近位短縮 小顎

常染色体優性遺伝

710
(67.5%)

acromelic frontonasal dysostosis
----
肢端短縮性前頭鼻異骨症 (AFND)

上口唇裂 合指趾症 眼瞼裂斜下 短頭

常染色体優性遺伝

Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.  >> 翻訳 (Google)

711
(67.4%)

lethal polymalformative syndrome, Boissel type
----
成長遅滞-発達遅滞-顔貌異常

下顎後退 口蓋裂 巨舌 短指症候群

常染色体劣性遺伝

712
(67.4%)

Jawad syndrome
----
Jawad 症候群

下顎後退 目立つ鼻 短い第5指中節骨

常染色体劣性遺伝

Jawad syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly wih facial dysmorphism (sloping forehead, prominent nose, mild retrognathia), moderate to severe, non-progressive intellectual disability and symmetrical digital malformations of variable degree, including brachydactyly of the fifth fingers with single flexion crease, clinodactyly, syndactyly, polydactyly and hallux valgus. Congenital anonychia and white café au lait-like spots on the skin of hands and feet are also associated.  >> 翻訳 (Google)

712
(67.4%)

sclerosteosis 2
----
硬化性骨症2

下顎突出 短い指

常染色体優性遺伝 常染色体劣性遺伝

Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene.  >> 翻訳 (Google)

714
(67.4%)

craniosynostosis-anal anomalies-porokeratosis syndrome
----
CDAGS 症候群

口蓋裂 疎な睫毛 短い肋骨

常染色体劣性遺伝

Craniosynostosis - anal anomalies - porokeratosis, or CDAGS, is a very rare condition characterized by craniosynostosis and clavicular hypoplasia, (C), delayed closure of the fontanel (D), anal anomalies (A), genitourinary malformations (G) and skin eruption (S).  >> 翻訳 (Google)

714
(67.4%)

LEOPARD syndrome 1
----
LEOPARD 症候群 1

内眼角贅皮 口蓋裂 肋骨欠損

常染色体優性遺伝

Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24.  >> 翻訳 (Google)

716
(67.4%)

Greenberg dysplasia
----
Greenberg 異形成

小肢症 小顎 歯不正配列 眼窩領域の異常 軸後性多指症

常染色体劣性遺伝

A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.  >> 翻訳 (Google)

717
(67.4%)

osteogenesis imperfecta type 10
----
骨形成不全 X 型

小肢症 小顎 浅い眼窩 象牙質形成不全

常染色体劣性遺伝

Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINH1 gene.  >> 翻訳 (Google)

718
(67.4%)

hereditary spastic paraplegia 16
----
痙直性対麻痺 15, X連鎖性, 複雑性

上顎低形成 短い指末節骨 顔面筋緊張低下

X連鎖劣性遺伝

A hereditary spastic paraplegia that has material basis in variation in the chromosome region Xq11.2.  >> 翻訳 (Google)

719
(67.4%)

mucolipidosis type III
----
ムコリピドーシス III α/β

手根骨低形成 短い肋骨 短い長管骨 粗な顔貌

常染色体劣性遺伝

Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.  >> 翻訳 (Google)

719
(67.4%)

Dyggve-Melchior-Clausen disease
----
Dyggve-Melchior-Clausen 病

手根骨低形成 短い中足骨 粗な顔貌 肩甲骨低形成

常染色体劣性遺伝

Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias.  >> 翻訳 (Google)

721
(67.3%)

LEOPARD syndrome 2
----
LEOPARD 症候群 2

下顎突出 内眼角贅皮 分厚い下口唇唇紅部 外反肘

常染色体優性遺伝

Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the RAF1 gene.  >> 翻訳 (Google)

721
(67.3%)

Noonan syndrome 5
----
Noonan 症候群 5

下顎突出 内眼角贅皮 分厚い唇紅部縁 外反肘

常染色体優性遺伝

Any Noonan syndrome in which the cause of the disease is a mutation in the RAF1 gene.  >> 翻訳 (Google)

723
(67.3%)

Adams-Oliver syndrome 1
----
Adams-Oliver 症候群1

上口唇裂 口蓋裂 小頭 短指症候群

常染色体優性遺伝

Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene.  >> 翻訳 (Google)

724
(67.3%)

autosomal recessive cutis laxa type 2A
----
弛緩性皮膚, 常染色体劣性, IIA 型

先天性股関節脱臼 平坦な頬 眼瞼裂斜下 長い人中

常染色体劣性遺伝

An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.  >> 翻訳 (Google)

725
(67.3%)

lethal congenital contracture syndrome 9
----
致死性先天性関節拘縮症候群9

内転母指 小顎 薄い上口唇唇紅部

常染色体劣性遺伝

Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene.  >> 翻訳 (Google)

725
(67.3%)

congenital contractures of the limbs and face, hypotonia, and developmental delay
----
先天性四肢および顔拘縮-筋緊張低下-発達遅滞

すぼめた口唇 内転母指 小顎 長い人中

常染色体優性遺伝

725
(67.3%)

nephrotic syndrome, type 11
----
ネフローゼ症候群11型

くも指 口蓋裂 小顎 平坦な人中

常染色体劣性遺伝

Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene.  >> 翻訳 (Google)

725
(67.3%)

polymicrogyria with or without vascular-type ehlers-danlos syndrome

小顎 平坦な人中 細い指 薄い唇紅部縁

常染色体劣性遺伝

725
(67.3%)

Galloway-Mowat syndrome 7

くも指 口蓋裂 小顎 平坦な人中

常染色体劣性遺伝

725
(67.3%)

cerebellar atrophy, visual impairment, and psychomotor retardation;
----
小脳萎縮-視力障害-精神運動発達遅滞

小顎 目立つ指尖パッド 短い上口唇

常染色体劣性遺伝

725
(67.3%)

Mullegama-Klein-Martinez syndrome

口蓋裂 小顎 第5指弯指 薄い上口唇唇紅部

X連鎖遺伝

725
(67.3%)

recombinant 8 syndrome
----
組換え染色体8症候群

小顎 歯の異常 第5指弯指 薄い上口唇唇紅部

常染色体優性遺伝

Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.  >> 翻訳 (Google)

725
(67.3%)

neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
----
神経発達傷害-進行性小頭症-痙性-脳奇形

小顎 平坦な人中 長い指 高口蓋

常染色体劣性遺伝

734
(67.2%)

syndromic X-linked intellectual disability Siderius type
----
Siderius X連鎖性精神遅滞症候群

唇裂 大きな手 眼瞼裂斜上 胸部後弯

X連鎖劣性遺伝

735
(67.2%)

short-rib thoracic dysplasia 15 with polydactyly
----
短肋骨性胸郭異形成 15-多指症

内眼角贅皮 副口腔小帯 短い肋骨 短指症候群

常染色体劣性遺伝

736
(67.2%)

Tukel syndrome
----
Tukel 症候群

先天性外眼筋線維症 手根骨無形成 軸後性乏指趾症

常染色体劣性遺伝

737
(67.2%)

atypical glycine encephalopathy
----
グリシン脳症, 正常血清グリシン

上向きの鼻孔 下顎後退 握り手 長い睫毛

常染色体劣性遺伝

Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE.  >> 翻訳 (Google)

738
(67.2%)

brachydactyly type E2
----
短指症 E2 型

乏歯症 短い中手骨 短い中足骨

常染色体優性遺伝

Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene.  >> 翻訳 (Google)

738
(67.2%)

pseudopseudohypoparathyroidism
----
偽性偽性副甲状腺機能低下症 (PPHP)

大きな頬 歯萌出遅延 短い中手骨 短い中足骨

常染色体優性遺伝

Pseudopseudohypoparathyroidism (pseudo-PHP) is a disease characterized by a constellation of clinical features collectively termed Albright hereditary osteodystrophy (AHO) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP).  >> 翻訳 (Google)

738
(67.2%)

pseudohypoparathyroidism type 1C
----
偽性副甲状腺機能低下症 Ic 型 (PHP1C)

大きな頬 歯萌出遅延 短い中手骨 短い中足骨

常染色体優性遺伝

Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO), but normal activity of the stimulatory protein G (Gs alpha).  >> 翻訳 (Google)

738
(67.2%)

metaphyseal chondrodysplasia, Kaitila type
----
骨幹端軟骨異形成, Kaitila 型

狭い口蓋 短い中手骨 短い中足骨 短い趾

常染色体劣性遺伝

Metaphyseal chondrodysplasia, Kaitila type is a rare multiple metaphyseal dysplasia disease characterized by disproportionate short stature, short limbs and digits, tracheobronchial malacia and progressive thoracolumbar scoliosis. Radiographic imaging shows progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. There have been no further descriptions in the literature since 1982.  >> 翻訳 (Google)

742
(67.2%)

Sifrim-Hitz-Weiss syndrome
----
Sifrim-Hitz-Weiss 症候群

内眼角贅皮 短い大腿骨頸部 短い鎖骨 粗な顔貌

常染色体優性遺伝

743
(67.1%)

holoprosencephaly-craniosynostosis syndrome
----
全前脳症, semilobar-頭蓋骨縫合早期癒合

冠状縫合早期癒合 椎体骨低形成 短い指末節骨

常染色体劣性遺伝

Holoprosencephaly-craniosynostosis syndrome is a rare developmental defect during embryogenesis syndrome characterized by the association of primary craniosynostosis (usually involving the coronal and metopic sutures) with holoprosencephaly (ranging from alobar to, most commonly, semilobar) and various skeletal anomalies (typically, hand and feet anomalies including fifth digit clinodactyly, hypoplastic phalanges and cone-shaped epiphyses, small vertebral bodies, scoliosis, coxa valga and/or flexion deformities of hips). Craniofacial asymmetry, microcephaly, brachy/plagiocephaly, short stature and psychomotor delay are additional common features.  >> 翻訳 (Google)

744
(67.1%)

Gabriele de Vries syndrome
----
Gabriele-de Vries 症候群

分厚い下口唇唇紅部 平坦な頬 眼瞼裂斜下 長い指

常染色体優性遺伝

745
(67.0%)

short-rib thoracic dysplasia 14 with polydactyly
----
短肋骨性胸郭異形成 14-多指症

口蓋裂 小肢症 短い肋骨

常染色体劣性遺伝

An asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23.  >> 翻訳 (Google)

746
(67.0%)

genito-palato-cardiac syndrome
----
性器口蓋心症候群

上口唇裂 口蓋裂 小顎

常染色体劣性遺伝

Genitopalatocardiac syndrome is a rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.  >> 翻訳 (Google)

746
(67.0%)

Mayer-Rokitansky-Küster-Hauser syndrome type 2
----
MURCS 連合 (ミューラー管無形成-腎無形成-頚胸椎体節奇形)

上口唇裂 口蓋裂 小顎

孤発性

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 2, a form of MRKH syndrome, is characterized by congenital aplasia of the uterus and upper 2/3 of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. The acronym MURCS (MCllerian duct aplasia, Renal dysplasia, Cervical Somite anomalies) is also used.  >> 翻訳 (Google)

746
(67.0%)

Vici syndrome
----
Vici 症候群

上口唇裂 口蓋裂 小顎

常染色体劣性遺伝

Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.  >> 翻訳 (Google)

749
(67.0%)

Eiken syndrome
----
Eiken 症候群

腓骨低形成 骨格異形成

常染色体劣性遺伝

Eiken syndrome is a rare familial skeletal dysplasia characterized by multiple epiphyseal dysplasia, with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family.  >> 翻訳 (Google)

750
(66.9%)

psychomotor retardation, epilepsy, and craniofacial dysmorphism
----
精神運動発達遅滞-てんかん-頭蓋顔面形態異常

幅広い下顎 幅広い口 幅広い母指 短い手掌

常染色体劣性遺伝

751
(66.9%)

Koolen de Vries syndrome
----
Koolen- de Vries 症候群

くも指 上口唇裂 内眼角贅皮 小頭

常染色体優性遺伝 連続遺伝子症候群

Monosomy 17q21.31 (17q21.31 microdeletion syndrome) is a chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior.  >> 翻訳 (Google)

752
(66.9%)

XY type gonadal dysgenesis-associated anomalies syndrome
----
性腺異発生, XY 型-その他の奇形

上口唇裂 口腔裂 肢端短縮

常染色体劣性遺伝

Gonadal dysgenesis with multiple anomalies is an association syndrome described only once in two sisters aged 1 1/2 and 8 1/2 years. They had a 46,XY karyotype, cleft lip and palate, preauricular pits, and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal, and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. The mode of inheritance is most likely autosomal recessive.  >> 翻訳 (Google)

753
(66.8%)

thumb deformity (disease)
----
母指変形

心血管系 母指無形成/低形成

753
(66.8%)

acrorenal syndrome
----
先端腎症候群

乏指症

常染色体優性遺伝

Acrorenal syndrome comprises a wide spectrum of congenital malformative disorders characterized by the co-occurrence of distal limb anomalies (usually bilateral cleft feet and/or hands) and renal defects (e.g. unilateral or bilateral agenesis), that can be associated with a variety of other anomalies such as those of genitourinary tract (genital anomalies, ureteral hypoplasias, vesicoureteral reflux), abdominal well defects, intestinal atresias, and lung malformations. Familial cases have been reported in which an autosomal recessive inheritance was suspected.  >> 翻訳 (Google)

753
(66.8%)

XK aprosencephaly
----
無前脳症候群

乏指症

常染色体劣性遺伝

XK aprosencephaly is a very rare syndromic type of cerebral malformation characterized by aprosencephaly (absence of telencephalon and diencephalon), oculo-facial anomalies (i.e. ocular hypotelorism or cyclopia, malformation/absence of nasal structures, cleft lip), preaxial limb defects (i.e. hypoplastic hands, absent halluces) and various other anomalies including ambiguous genitalia, imperforate anus, and vertebral anomalies. The syndrome is thought to have an autosomal recessive mode of inheritance.  >> 翻訳 (Google)

753
(66.8%)

tetramelic monodactyly
----
全四肢単指趾症

単指 裂手

常染色体優性遺伝

Tetramelic monodactyly is a rare, genetic, congenital limb malformation disorder characterized by the presence of a single digit on all four extremities. Malformation is typically isolated however, aplastic and hypoplastic defects in the remaining skeletal parts of hands and feet have been reported. There have been no further descriptions in the literature since 1992.  >> 翻訳 (Google)

753
(66.8%)

heart-hand syndrome, Slovenian type
----
心手症候群, スロベニア型

手の中節骨無形成 短指症候群

常染色体優性遺伝

Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.  >> 翻訳 (Google)

753
(66.8%)

split hand-foot malformation 6
----
裂手/裂足奇形６

乏指症 裂手

常染色体劣性遺伝

Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene.  >> 翻訳 (Google)

753
(66.8%)

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
----
無指趾骨-半脊椎

手足の無指趾骨 泌尿生殖器異常

常染色体劣性遺伝

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis is an extremely rare congenital limb malformation syndrome, described in only 3 patients to date, and characterized by the association of hypoplasia or aplasia of the hand and foot phalanges, hemivertebrae and various urogenital and/or intestinal abnormalities (i.e. dysgenesis of the urogenital tract and rectum). There have been no further descriptions in the literature since 1991.  >> 翻訳 (Google)

753
(66.8%)

Karsch-Neugebauer syndrome
----
裂手-先天性眼振-眼底変化-白内障

単指 斜視

常染色体優性遺伝

Karsch-Neugebauer syndrome is a rare syndrome characterized by split-hand and split-foot deformity and ocular abnormalities, mainly a congenital nystagmus.  >> 翻訳 (Google)

753
(66.8%)

mesoaxial synostotic syndactyly with phalangeal reduction
----
合指症, 軸中骨癒合性-指骨減少

手掌横線 母指無形成/低形成 母趾末節骨無形成/低形成

常染色体劣性遺伝

Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.  >> 翻訳 (Google)

753
(66.8%)

angioosteohypertrophic syndrome
----
Klippel-Trenaunay-Weber 症候群

乏指症 緑内障

孤発性

Angio-osteohypertrophic (AOH) syndrome is a congenital vascular bone syndrome (CVBS) characterized by the presence of a vascular malformation in a limb, mainly of the arteriovenous type, which results in overgrowth of the affected limb.  >> 翻訳 (Google)

763
(66.7%)

metaphyseal chondrodysplasia, Jansen type
----
骨幹端軟骨異形成, Jansen 型

小顎 後鼻孔狭窄 歯不正配列 短い長管骨 第5指弯指

常染色体優性遺伝

Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.  >> 翻訳 (Google)

764
(66.7%)

vitamin K-dependent clotting factors, combined deficiency of, type 1
----
ビタミンK依存性凝固, 混合性欠乏症1

短い指末節骨 鼻出血

常染色体劣性遺伝

Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z.  >> 翻訳 (Google)

764
(66.7%)

skeletal dysplasia-intellectual disability syndrome
----
精神遅滞-骨格異形成-外直筋麻痺

幅広い鼻梁 短い指中節骨

X連鎖遺伝

Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked.  >> 翻訳 (Google)

764
(66.7%)

X-linked chondrodysplasia punctata 1
----
点状軟骨異形成 1, Ｘ連鎖性劣性型 (CDPX1)

短い指末節骨 短い鼻中隔

X連鎖劣性遺伝

Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones.  >> 翻訳 (Google)

764
(66.7%)

osteochondritis dissecans (disease)
----
低身長-骨年齢促進 +/- 早期発症骨関節炎 +/- 離断性骨軟骨炎

前頭突出, 額突出 短い母指

常染色体優性遺伝

Osteochondritis dissecans (OCD) is a rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis.  >> 翻訳 (Google)

764
(66.7%)

spondylometaphyseal dysplasia, Golden type
----
脊椎骨幹端異形成, X連鎖性

短い指 粗な顔貌

X連鎖遺伝 X連鎖優性遺伝

Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base.  >> 翻訳 (Google)

769
(66.6%)

short-rib thoracic dysplasia 8 with or without polydactyly
----
短肋骨異形成8 +/- 多指症

短い肋骨 短い長管骨 短指症候群 落ちくぼんだ鼻梁

常染色体劣性遺伝

An asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36.  >> 翻訳 (Google)

770
(66.5%)

Joubert syndrome 10
----
Joubert 症候群10

内眼角贅皮 大頭 深い人中 軸後性多指趾症

X連鎖劣性遺伝

Any Joubert syndrome in which the cause of the disease is a mutation in the OFD1 gene.  >> 翻訳 (Google)

770
(66.5%)

Alazami-Yuan syndrome
----
Alazami-Yuan 症候群

小頭 幅広い母趾 薄い上口唇唇紅部 長い睫毛

常染色体劣性遺伝

770
(66.5%)

congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
----
先天性心奇形-顔貌異常-知的発達障害

Clinodactyly 内眼角贅皮 小頭 薄い上口唇唇紅部

常染色体優性遺伝

770
(66.5%)

megalencephaly-capillary malformation-polymicrogyria syndrome
----
巨脳症-毛細血管奇形-多小脳回症候群

内眼角贅皮 合指趾症 平坦な人中 進行性大頭

体細胞突然変 孤発性

Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is a polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.  >> 翻訳 (Google)

770
(66.5%)

sialuria
----
シアル酸尿

内眼角贅皮 前頭突出, 額突出 薄い上口唇唇紅部 長い母趾

常染色体優性遺伝

Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.  >> 翻訳 (Google)

775
(66.5%)

developmental malformations-deafness-dystonia syndrome
----
ジストニア, 若年発症

上口唇裂 口蓋裂 肩甲骨低形成

常染色体優性遺伝

Developmental malformations-deafness-dystonia syndrome is characterised by the association of midline malformations, sensory hearing loss, and a delayed-onset generalised dystonia syndrome.  >> 翻訳 (Google)

776
(66.5%)

connective tissue disorder due to lysyl hydroxylase-3 deficiency
----
骨脆弱性-関節拘縮-動脈破裂-難聴

大腿骨骨頭骨端低形成 平坦な頬 母指球筋萎縮 浅い眼窩 長い人中

常染色体劣性遺伝

Connective tissue disorder due to lysyl hydroxylase-3 deficiency is a rare, genetic disease, caused by lack of lysyl hydrohylase 3 (LH3) activity, characterized by multiple tissue and organ involvement, including skeletal abnormalities (club foot, progressive scoliosis, osteopenia, pathologic fractures), ocular involvement (flat retinae, myopia, cataracts) and hair, nail and skin anomalies (coarse, abnormally distributed hair, skin blistering, reduced palmar creases, hypoplastic nails). Patients also present intrauterine growth retardation, facial dysmorphism (flat facial profile, low-set ears, shallow orbits, short and upturned nose, downturned corners of mouth) and joint flexion contractures. Growth and developmental delay, bilateral sensorineural deafness, friable diaphragm and later-onset spontaneous vascular ruptures are additional reported features.  >> 翻訳 (Google)

777
(66.4%)

acrodysostosis 2 with or without hormone resistance
----
肢端異骨症2 +/- ホルモン抵抗性

下顎突出 平坦な頬 短い中手骨 短い中足骨

常染色体優性遺伝

Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene.  >> 翻訳 (Google)

778
(66.3%)

Al-Raqad syndrome
----
Al-Raqad 症候群

小頭 狭い口 短指症候群 薄い上口唇唇紅部

常染色体劣性遺伝

779
(66.3%)

severe combined immunodeficiency due to DNA-PKcs deficiency
----
免疫不全24 +/- 神経学的異常

小頭 指の重なり 薄い上口唇唇紅部

常染色体劣性遺伝

Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.  >> 翻訳 (Google)

780
(66.3%)

velocardiofacial syndrome
----
口蓋帆心顔症候群

下顎後退 手の異常 眼瞼裂狭小 粘膜下硬口蓋裂

常染色体優性遺伝

A chromosomal disease that has material basis in deletion polymorphisms at chromosome location 22q11 and is characterized by variable developmental problems and schizoid features.  >> 翻訳 (Google)

781
(66.3%)

arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
----
関節拘縮-口蓋裂-頭蓋骨縫合早期癒合-知的発達障害

口蓋裂 小顎 短指症候群

常染色体優性遺伝

781
(66.3%)

Loeys-Dietz syndrome 2
----
Loeys-Dietz 症候群2型

口蓋裂 小顎 短指症候群

常染色体優性遺伝 Heterogeneous

A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2.  >> 翻訳 (Google)

783
(66.2%)

otofacioosseous-gonadal syndrome
----
耳顔骨性腺症候群

内眼角贅皮 平坦な頬 短い母趾

常染色体劣性遺伝

783
(66.2%)

chromosome 16p13.3 duplication syndrome
----
16p13.3 重複症候群

平坦な頬 眼瞼裂斜上 短い趾

常染色体優性遺伝 孤発性

16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioural problems.  >> 翻訳 (Google)

785
(66.2%)

cleft palate-stapes fixation-oligodontia syndrome
----
口蓋裂-難聴-乏歯症

短い母趾 軟口蓋裂

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)

786
(66.2%)

cortical blindness-intellectual disability-polydactyly syndrome
----
皮質盲-精神遅滞-軸後性多指症

小顎後退 長い人中

常染色体劣性遺伝

This syndrome is characterised by cortical blindness, intellectual deficit, and polydactyly.  >> 翻訳 (Google)

786
(66.2%)

faciothoracogenital syndrome
----
顔胸性器症候群

小顎 薄い上口唇唇紅部

常染色体劣性遺伝

786
(66.2%)

trismus-pseudocamptodactyly syndrome
----
遠位関節拘縮症 7 型

小顎 深い人中 顔面非対称

常染色体優性遺伝

786
(66.2%)

cataract - congenital heart disease - neural tube defect syndrome
----
頭蓋顔面異常-白内障-先天性心疾患-仙骨部神経管異常-成長および発達遅滞

分厚い下口唇唇紅部 小顎 短い人中

常染色体劣性遺伝

Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.  >> 翻訳 (Google)

786
(66.2%)

Keppen-Lubinsky syndrome
----
Keooen-Lubinsky 症候群

小顎 短い人中 開口

常染色体優性遺伝

786
(66.2%)

faciocardiorenal syndrome
----
顔心腎症候群

人中低形成 口蓋裂 小顎

常染色体劣性遺伝

Faciocardiorenal syndrome is a very rare syndrome characterized by intellectual deficit, horseshoe kidney, and congenital heart defects.  >> 翻訳 (Google)

786
(66.2%)

chromosome 1p35 deletion syndrome
----
1p35 欠失症候群

小顎 狭い口 薄い上口唇唇紅部

常染色体優性遺伝

786
(66.2%)

Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
----
Klippel-Feil 症候群 4, 常染色体劣性, ネマリンミオパチー-顔貌異常

小顎 薄い上口唇唇紅部 高口蓋

常染色体劣性遺伝

786
(66.2%)

congenital muscular dystrophy with intellectual disability and severe epilepsy
----
先天性グリコシル化異常症 Iu

小顎 薄い上口唇唇紅部 高口蓋

常染色体劣性遺伝

786
(66.2%)

Perlman syndrome
----
Perlman 症候群

テント状上口唇唇紅部 小顎 開口

常染色体劣性遺伝

Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.  >> 翻訳 (Google)

786
(66.2%)

X-linked lissencephaly with abnormal genitalia
----
滑脳症, X連鎖性, 2

小顎 薄い上口唇唇紅部 高口蓋

X連鎖遺伝

X-linked lissencephaly with abnormal genitalia (XLAG) is a severe neurological disorder that only manifests in genotypic males and includes lissencephaly with posterior-to-anterior gradient and only moderate increase in thickness of the cortex, absent corpus callosum, neonatal-onset severe epilepsy, hypothalamic dysfunction including defective temperature regulation, and ambiguous genitalia with micropenis and cryptorchidism. XLAG differs considerably from classical lissencephaly, as the resulting cortical thickness is only 6-7 mm in XLAG, rather than 15-20 mm seen in classical lissencephaly due to mutations of the PAFAH1B1 or DCX genes. In 2002, mutations in the X-linked aristaless-related homeobox gene (ARX ; Xp21.3) were identified in individuals with XLAG and in some of their female relatives. Mouse Arx and human ARX are highly expressed in both dorsal and ventral telencephalon, including the neocortical ventricular zone and germinal zone of the ganglionic eminence, with less intense signals in the subventricular zone, cortical plate, hippocampus, basal ganglia and ventral thalamus. Arx-deficient mice showed deficient tangential migration and abnormal differentiation of GABAergic interneurons in the ganglionic eminence and neocortex, as well as abnormal testicular differentiation. These characteristics include some of the clinical features of XLAG in humans. The ARX mutations in XLAG patients were predominantly premature termination mutations (large deletions, frameshift, nonsense mutations, splice site mutations) while the missense mutations were less common and located essentially in the homeobox domain. Patients carrying nonconservative missense mutations within the homeobox, showed less severe XLAG, while conservative substitution in the homeodomain caused Proud syndrome (ACC with abnormal genitalia). A non conservative missense mutation near the C-terminal aristaless domain caused unusually severe XLAG with microcephaly and mild cerebellar hypoplasia. The ARX mutations are also associated with a spectrum of milder phenotypes, without macroscopic malformations of the brain, such as X-linked infantile spasms, a syndrome featuring mental retardation associated with distal dystonic movements (Partington syndrome), autistic features and nonsyndromicintellectual deficit.  >> 翻訳 (Google)

786
(66.2%)

cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
----
弛緩性皮膚, 常染色体劣性, IC型

小顎 平坦な頬 長い人中

常染色体劣性遺伝

A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13  >> 翻訳 (Google)

786
(66.2%)

pseudo-TORCH syndrome 1
----
偽TORCH 症候群 1

小顎後退 長い人中 高口蓋

常染色体劣性遺伝

786
(66.2%)

hypotonia, infantile, with psychomotor retardation and characteristic facies 1
----
筋緊張低下, 乳児-精神運動発達遅滞-特異顔貌

小顎 幅広い口 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 NALCN gene.  >> 翻訳 (Google)

786
(66.2%)

DYRK1A-related intellectual disability syndrome
----
精神遅滞, 常染色体優性 7

分厚い下口唇唇紅部 小顎 薄い上口唇唇紅部

常染色体優性遺伝

An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of DYRK1A on chromosome 21q22.13.  >> 翻訳 (Google)