701
(66.8%)

Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome

手形態異常 短い第5中手骨 顔の異常

常染色体優性遺伝

Patent ductus arteriosus - bicuspid aortic valve - hand anomalies syndrome is a very rare heart-hand syndrome (see this term) that is characterized by a variety of cardiovascular anomalies including patent arterial duct, bicuspid aortic valve and pseudocoarctation of the aorta in conjunction with hand anomalies such as brachydactyly and ulnar ray derivative i.e. fifth metacarpal hypoplasia. Transmission is most likely autosomal dominant.  >> 翻訳 (Google)

702
(66.8%)

Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome

母指無形成/低形成 脛骨無形成/低形成 腓骨の異常

Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.  >> 翻訳 (Google)

702
(66.8%)

Retiform hemangioendothelioma

Small finger 血管腫

702
(66.8%)

Camptobrachydactyly
----
屈短指症

母指無形成/低形成 膣中隔

常染色体優性遺伝

Camptobrachydactyly is an extremely rare brachydactyly syndrome, characterized by short broad hands and feet with brachydactyly associated with congenital flexion contractures of the proximal and/or distal interphalangeal joints of the fingers, as well as syndactyly of feet. Polydactyly, septate vagina and urinary incontinence were also occasionally reported. Camptobrachydactyly has been described in 18 members of 1 family, suggesting an autosomal dominant inheritance. There have been no further descriptions in the literature since 1972.  >> 翻訳 (Google)

702
(66.8%)

DK1-CDG

乾いた皮膚 無指

常染色体劣性遺伝

DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.  >> 翻訳 (Google)

702
(66.8%)

Diphallia
----
陰茎重複

母指欠損 鼠径ヘルニア

A rare, non-syndromic, urogenital tract malformation characterized by complete or partial penile duplication, ranging from only glans duplication to the presence of two penis shafts with either one (i.e. bifid phallus) or two (i.e. true diphallia) corpora cavernosum in each. Additional anomalies, such as urethra duplication, an abnormal voiding pattern, hypo- or epispadias, bifid/ectopic scrotum, bladder exstrophy or duplication, are frequently associated, but it may also present as an isolated anomaly. In severe cases, pubic symphysis diastasis, imperforate or duplicated anus, colon/ rectosigmoidal duplication, inguinal hernia and vertebral anomalies may be observed.  >> 翻訳 (Google)

702
(66.8%)

Pigmented villonodular synovitis
----
色素性絨毛結節性滑膜炎

Small finger 両眼隔離

Pigmented villonodular synovitis (PVNS) is a rare benign proliferative disorder of the synovial membrane primarily affecting young adults (with a peak age of onset in the second to fourth decade of life) characterized by proliferative, locally invasive tumor-like lesions, usually involving a single joint, tendon sheath or bursa (most commonly the joints of the knee and hip and rarely others such as the ankle, shoulder and temporomandibular joints). It presents with pain and limitation of motion along with swelling, heat and tenderness over the involved joint, eventually leading to arthritic degeneration and significant locomotor deficit, if left untreated. PVNS can recur in patients even after treatment.  >> 翻訳 (Google)

708
(66.7%)

Short stature-advanced bone age-early-onset osteoarthritis syndrome

短い母指 顔面中部後退

A rare, primary bone dysplasia characterized by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis.  >> 翻訳 (Google)

708
(66.7%)

Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome

前頭突出, 額突出 短い指末節骨

Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome is characterised by osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family.  >> 翻訳 (Google)

708
(66.7%)

Keutel syndrome
----
Keutel 症候群

短い指末節骨 長い顔

常染色体劣性遺伝

Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.  >> 翻訳 (Google)

711
(66.7%)

Lethal recessive chondrodysplasia

小肢症 小顎 巨舌 短い長管骨

Lethal recessive chondrodysplasia is an extremely rare lethal form of chondrodysplasia characterized by severe micromelic dwarfism, short and incurved limbs with normal hands and feet, facial dysmorphism (disproportionately large skull, frontal prominence, slightly flattened nasal bridge and short neck), muscular hypotonia, hyperlaxity of the extremities, and a narrow thorax. Most patients die of respiratory distress during the first hours or weeks of life. There have been no further descriptions in the literature since 1988.  >> 翻訳 (Google)

712
(66.5%)

Ulna metaphyseal dysplasia syndrome
----
尺骨骨幹端異形成症候群

尺骨の異常 橈骨無形成/低形成 歯の異常

常染色体優性遺伝

Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.  >> 翻訳 (Google)

712
(66.5%)

Camurati-Engelmann disease
----
Camurati-Engelmann 病 (CED)

尺骨の異常 橈骨無形成/低形成 齲歯

常染色体優性遺伝

Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.  >> 翻訳 (Google)

714
(66.5%)

3q29 microduplication syndrome

合趾症 大きな泉門 深い人中 眼瞼裂斜下

常染色体優性遺伝

3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.  >> 翻訳 (Google)

714
(66.5%)

Pyruvate dehydrogenase deficiency

三角頭蓋 内眼角贅皮 第4趾中節骨の骨融解病変 長い人中

Pyruvate dehydrogenase deficiency (PDHD) is a rare neurometabolic disorder characterized by a wide range of clinical signs with metabolic and neurological components of varying severity. Manifestations range from often fatal, severe, neonatal lactic acidosis to later-onset neurological disorders. Six subtypes related to the affected subunit of the PDH complex have been recognized with significant clinical overlap: PDHD due to E1-alpha, E1-beta, E2 and E3 deficiency, PDHD due to E3-binding protein deficiency, and PDH phosphatase deficiency (see these terms).  >> 翻訳 (Google)

714
(66.5%)

Okamoto syndrome
----
水腎症, 先天性-口蓋裂-顔貌異常-筋緊張低下-精神遅滞

テント状上口唇唇紅部 多指趾症 小頭 長い眼瞼裂

Okamoto syndrome is characterised by congenital hydronephrosis, intellectual deficit, growth retardation, cleft palate, generalised hypotonia and a characteristic face. Cardiac anomalies have also been reported. To date, 6 cases have been reported.  >> 翻訳 (Google)

717
(66.5%)

Dysmorphism-short stature-deafness-disorder of sex development syndrome

小顎 軟口蓋裂 高位の弓形眉毛

Dysmorphism-short stature-deafness-disorder of sex development syndrome is characterized by dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation. It has been described in two siblings. It is transmitted as an autosomal recessive trait.  >> 翻訳 (Google)

718
(66.5%)

Hypoplastic tibiae-postaxial polydactyly syndrome

母指無形成/低形成 短い脛骨 落ちくぼんだ鼻尖

Hypoplastic tibia-polydactyly syndrome is a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands.  >> 翻訳 (Google)

719
(66.5%)

Congenital fiber-type disproportion myopathy

テント状上口唇唇紅部 小顎 指屈曲拘縮 高口蓋

常染色体優性遺伝 常染色体劣性遺伝 X連鎖劣性遺伝 Heterogeneous

A rare genetic, congenital, non-dystrophic myopathy characterized by neonatal or infantile-onset hypotonia and mild to severe generalized muscle weakness.  >> 翻訳 (Google)

720
(66.5%)

Limb-mammary syndrome
----
四肢乳房症候群

唇裂 平坦な頬 眼瞼炎 第5指弯指

常染色体優性遺伝

Limb-mammary syndrome (LMS) is a rare disease belonging to the group of ectodermal dysplasias.  >> 翻訳 (Google)

721
(66.5%)

Immune thrombocytopenic purpura
----
血小板減少性紫斑病, 自己免疫性

橈骨欠損 歯肉出血

常染色体優性遺伝

Immune thrombocytopenic purpura (or immune thrombocytopenia; ITP) is an autoimmune coagulation disorder characterized by isolated thrombocytopenia (a platelet count <100,000/microL), in the absence of any underlying disorder that may be associated with thrombocytopenia.  >> 翻訳 (Google)

722
(66.4%)

Jackson-Weiss syndrome
----
Jackson-Weiss 症候群 (JWS)

下顎突出 口蓋の異常 短い中足骨

常染色体優性遺伝

Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients.  >> 翻訳 (Google)

723
(66.4%)

Brachydactyly-mesomelia-intellectual disability-heart defects syndrome

口蓋の異常 四肢中部短縮 小顎 短指症候群

Brachydactyly-mesomelia-intellectual disability-heart defects syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, thin habitus with narrow shoulders, mesomelic shortness of the arms, craniofacial dysmorphism (e.g. long lower face, maxillary hypoplasia, beak nose, short columella, prognathia, high arched palate, obtuse mandibular angle), brachydactyly (mostly involving middle phalanges) and cardiovascular anomalies (i.e. aortic root dilatation, mitral valve prolapse).  >> 翻訳 (Google)

723
(66.4%)

Osteoglosphonic dysplasia
----
中空骨異形成

四肢近位短縮 多発性歯未萌出 小顎 後鼻孔閉鎖 短指症候群

常染色体優性遺伝

A rare disorder characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.  >> 翻訳 (Google)

725
(66.3%)

Craniofrontonasal dysplasia-Poland anomaly syndrome

Sparse eyebrow 幅広い口 片側性短指趾症 頭蓋骨の無形成/低形成

Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterised by craniosynostosis, Poland anomaly (see this term), cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far.  >> 翻訳 (Google)

726
(66.3%)

Camptodactyly of fingers

三角形の顔 小顎 眼瞼裂斜下 短指症候群

常染色体優性遺伝

Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected.  >> 翻訳 (Google)

726
(66.3%)

Prominent glabella-microcephaly-hypogenitalism syndrome

小顎 目立つ鼻梁 短い眼瞼裂 短指症候群

常染色体劣性遺伝

Prominent glabella – microcephaly – hypogenitalism is a very rare syndrome described in two sibs and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions.  >> 翻訳 (Google)

728
(66.2%)

Silver-Russell syndrome
----
Silver-Russell 症候群 (SRS)

小顎 第5指弯指 薄い唇紅部縁

常染色体優性遺伝 孤発性

Silver-Russell syndrome is characterized by growth retardation with antenatal onset, characteristic facies and limb asymmetry.  >> 翻訳 (Google)

729
(66.2%)

Beemer-Ertbruggen syndrome

小顎 深い人中 球状の鼻

常染色体劣性遺伝

Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984.  >> 翻訳 (Google)

729
(66.2%)

3-hydroxyisobutyric aciduria
----
3-水酸化酪酸尿症

三角形の顔 小顎 長い人中

常染色体劣性遺伝

3 hydroxyisobutyric aciduria is characterised by ketoacidotic episodes, cerebral anomalies and facial dysmorphism. It is an organic aciduria that involves valine metabolism. Thirteen cases have been described in the literature so far. Transmission is thought to be autosomal recessive.  >> 翻訳 (Google)

729
(66.2%)

Polyvalvular heart disease syndrome

小顎 短い人中 高口蓋

Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.  >> 翻訳 (Google)

729
(66.2%)

X-linked intellectual disability, Najm type

小顎 幅広い額 長い人中

X連鎖優性遺伝

Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.  >> 翻訳 (Google)

729
(66.2%)

Micro syndrome
----
Warburg マイクロ症候群 1

小顎 短い人中 高口蓋

Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.  >> 翻訳 (Google)

734
(66.2%)

Tricho-retino-dento-digital syndrome

歯の異常 短い第5中手骨

常染色体優性遺伝

Tricho-retino-dento-digital syndrome is an autosomal dominant ectodermal dysplasia syndrome, characterized by uncombable hair syndrome (see this term), congenital hypotrichosis and dental abnormalities such as oligodontia (see this term) or hyperdontia, and associated with early-onset cataract, retinal pigmentary dystrophy, and brachydactyly with brachymetacarpia. Furthermore, hyperactivity and a mild intellectual deficit have been reported in affected patients.  >> 翻訳 (Google)

734
(66.2%)

Hydrocephalus-obesity-hypogonadism syndrome

短い第4中手骨 高狭口蓋

This syndrome is characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.  >> 翻訳 (Google)

736
(66.2%)

Shprintzen-Goldberg syndrome
----
Shprintzen 臍帯ヘルニア症候群

くも指 小顎 眼瞼裂斜下 骨幹端の異常 高狭口蓋

常染色体優性遺伝 孤発性

Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.  >> 翻訳 (Google)

737
(66.1%)

Trisomy 5p

中手骨の異常 内眼角贅皮 小顎

Trisomy 5p is a chromosomal abnormality resulting from the duplication of a segment of variable size of the short arm of chromosome 5, which usually involves the distal band 5p15. The clinical presentation is variable but is always associated with severe intellectual deficit.  >> 翻訳 (Google)

738
(66.1%)

MMEP syndrome

三指節母指 下顎突出 正中口唇裂

The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation (SHFM; see this term). It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies.  >> 翻訳 (Google)

739
(66.1%)

Ring chromosome 1 syndrome

小頭 眼瞼裂斜下 第5指弯指 長い人中

Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly.  >> 翻訳 (Google)

739
(66.1%)

White forelock with malformations
----
白髪前頭房-奇形

内眼角贅皮 深い人中 第5指弯指 長頭

常染色体劣性遺伝

White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.  >> 翻訳 (Google)

739
(66.1%)

Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome

アーモンド型眼瞼裂 前頭脳瘤 手の異常 第5指弯指 薄い上口唇唇紅部

739
(66.1%)

Cerebrooculonasal syndrome
----
大脳眼鼻症候群

内眼角贅皮 短頭 軸後性多指症 長い人中

常染色体優性遺伝

Cerebro-oculo-nasal syndrome is a multisystem malformation syndrome that has been reported in about 10 patients. The clinical features include bilateral anophthalmia, abnormal nares, central nervous system anomalies, and neurodevelopmental delay.  >> 翻訳 (Google)

739
(66.1%)

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

先細りの指 内眼角贅皮 短頭 薄い上口唇唇紅部

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.  >> 翻訳 (Google)

739
(66.1%)

Proximal 16p11.2 microduplication syndrome

くも指 小頭 疎な睫毛 薄い上口唇唇紅部

Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.  >> 翻訳 (Google)

739
(66.1%)

3q29 microdeletion syndrome

先細りの指 小頭 眼瞼裂斜下 短い人中

常染色体優性遺伝 孤発性

A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.  >> 翻訳 (Google)

739
(66.1%)

KBG syndrome
----
KBG 症候群

Finger clinodactyly 内眼角外方偏位 小頭 手掌横線 薄い上口唇唇紅部

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)

747
(66.1%)

GM1 gangliosidosis
----
GM1ガングリオシドーシス

下顎突出 屈指 巨舌 長い人中 骨幹形態異常

GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic features.  >> 翻訳 (Google)

748
(66.1%)

Distal trisomy 18q

大きな手 小顎 高口蓋

Distal trisomy 18q is a rare, partial autosomal trisomy characterized by a variable phenotype that includes hypotonia, motor delay, mild to severe intellectual disability, seizures, variable cerebral anomalies, finger/toe syndactyly, fifth finger clinodactyly, strabismus, short neck and dysmorphic facial features.  >> 翻訳 (Google)

749
(66.0%)

Spondylometaphyseal dysplasia, A4 type

小肢症 扁平脊椎 短い手掌

常染色体劣性遺伝

Spondylometaphyseal dysplasia, A4 type is a rare primary bone dysplasia disorder characterized by disproportionate short stature, severe femoral neck deformity, marked metaphyseal abnormalities and platyspondyly consisting of ovoid vertebral bodies that have an anterior tongue-like deformity.  >> 翻訳 (Google)

749
(66.0%)

Multiple epiphyseal dysplasia type 1

小肢症 歩行障害 短い手掌

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)

749
(66.0%)

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

乱視 四肢近位短縮 短い手掌

常染色体劣性遺伝

Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterised by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive.  >> 翻訳 (Google)

752
(66.0%)

Ring chromosome 4 syndrome

小頭 小顎 尺骨の異常 橈骨無形成/低形成

Ring chromosome 4 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies.  >> 翻訳 (Google)

753
(66.0%)

Noonan syndrome-like disorder with loose anagen hair

内眼角贅皮 深い人中 漏斗胸 短指症候群 肘異常

Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome (see this term); a distinctive hair anomaly described as loose anagen hair syndrome (see this term); frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis (see this term); and short stature, often associated with a GH deficiency and psychomotor delays.  >> 翻訳 (Google)

754
(65.9%)

9p13 microdeletion syndrome

内眼角贅皮 小顎後退 第5指弯指 高口蓋

9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).  >> 翻訳 (Google)

754
(65.9%)

CK syndrome

内眼角贅皮 小顎後退 長い指 高口蓋

X連鎖劣性遺伝

CK syndrome is a rare, genetic, X-linked syndromic intellectual disability disorder characterized by mild to severe intellectual disability, infancy-onset seizures, post-natal microcephaly, cerebral cortical malformations, dysmorphic facial features (including long, narrow face, almond-shaped palpebral fissures, epicanthic folds, high nasal bridge, malar flattening, posteriorly rotated ears, high arched palate, crowded teeth, micrognathia) and thin body habitus. Long and slim fingers/toes, strabismus, hypotonia, spasticity, optic disc atrophy, and behavioral problems (aggression, attention deficit hyperactivity disorder and irritability) are additional features.  >> 翻訳 (Google)

754
(65.9%)

Czeizel-Losonci syndrome

Radial deviation of the thumb 小顎 眼瞼裂斜上 高口蓋

常染色体優性遺伝

Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spinabifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia, and radial defects.There have been no further descriptions in the literature since 1987.  >> 翻訳 (Google)

754
(65.9%)

Neonatal Marfan syndrome
----
新生児 Marfan 症候群

くも指 小顎後退 眼瞼裂斜下 高狭口蓋

Neonatal Marfan syndrome is a rare, severe and life-threatening genetic disease, occuring during the neonatal period, characterized by classical Marfan syndrome manifestations in addition to facial dysmorphism (megalocornea, iridodonesis, ectopia lentis, crumpled ears, loose redundant skin giving a 'senile' facial appearance), flexion joint contractures, pulmonary emphysema, and a severe, rapidly progressive cardiovascular disease (including ascending aortic dilatation and severe mitral and/or tricuspid valve insufficiency). Additionally, skeletal manifestations (arachnodactyly, dolichostenomelia, pectus deformities) are also associated.  >> 翻訳 (Google)

758
(65.8%)

Night blindness-skeletal anomalies-dysmorphism syndrome

下顎後退 内眼角贅皮 口蓋の異常 短指症候群 第5指弯指

This syndrome is characterized by night blindness, skeletal abnormalities (sloping shoulders, joint hyperextensibility, minor radiological anomalies) and characteristic facies (periorbital anomalies, malar flatness, retrognathia).  >> 翻訳 (Google)

759
(65.7%)

Lamellar ichthyosis
----
葉状魚鱗癬

下口唇唇紅部外反 内眼角外方偏位 外反膝 後側弯 短指症候群

Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.  >> 翻訳 (Google)

760
(65.7%)

Odontochondrodysplasia
----
脊椎骨幹端異形成-象牙質形成不全

下顎後退 小肢症 歯萌出遅延 短い手掌

常染色体優性遺伝

Odontochondrodysplasia, also called Goldblatt syndrome, is a very rare syndrome associating chondrodysplasia with dentinogenesis imperfecta.  >> 翻訳 (Google)

761
(65.7%)

Congenital dyserythropoietic anemia type III

歯肉出血 短い中足骨

常染色体優性遺伝 常染色体劣性遺伝

Congenital dyserythropoietic anemia type III (CDA III) is a rare form of CDA (see this term) characterized by dyserythropoiesis, with big multinucleated erythroblasts in the bone marrow, and manifesting with mild to moderate anemia.  >> 翻訳 (Google)

762
(65.7%)

Grange syndrome
----
Grange 症候群

短い手掌 高血圧

常染色体優性遺伝 常染色体劣性遺伝

Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.  >> 翻訳 (Google)

762
(65.7%)

Geleophysic dysplasia

小さい手 緑内障 肢端短縮

A rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as happy'').  >> 翻訳 (Google)

762
(65.7%)

Syndactyly type 2

合指趾症 短い手掌 短い足

Syndactyly type 2 or synpolydactyly (SPD) is a rare congenital distal limb malformation characterized by the combination of syndactyly and polydactyly.  >> 翻訳 (Google)

762
(65.7%)

Colonic atresia
----
結腸閉鎖

手欠損 水頭症

X連鎖遺伝

Colonic atresia is a congenital intestinal malformation resulting in a non-latent segment of the colon and characterized by lower intestinal obstruction manifesting with abdominal distention and failure to pass meconium in newborns.  >> 翻訳 (Google)

762
(65.7%)

Achromatopsia
----
色覚異常

小さい手 網膜症

A rare autosomal recessive retinal disorder characterized by color blindness, nystagmus, photophobia, and severely reduced visual acuity due to the absence or impairment of cone function.  >> 翻訳 (Google)

767
(65.6%)

Dysmorphism-pectus carinatum-joint laxity syndrome

内眼角外方偏位 外反膝 平坦な頬 深い人中

Dysmorphism-pectus carinatum-joint laxity syndrome is characterised by joint laxity, pectus carinatum and facial dysmorphism (mild frontal bossing, a beaked nose with a low nasal bridge, malar hypoplasia, chubby cheeks, a striking philtrum and arched upper lips). It has been described in two siblings. The mode of transmission is unknown.  >> 翻訳 (Google)

768
(65.6%)

Gastroschisis
----
腹壁破裂

Meromelia 浅い眼窩 短指症候群

Gastroschisis is marked by viscera protruding, without a covering sac, from the fetal abdomen on the right lateral base of the umbilicus. It is due to defective embryo growth and other malformations are only exceptionally associated.  >> 翻訳 (Google)

769
(65.6%)

Vaginal atresia
----
膣閉鎖

Y字型中手骨 二分した鼻尖 潜在眼球

770
(65.6%)

Opsismodysplasia
----
骨成熟遅延性異形成

前頭突出, 額突出 幅広い母指 椎体骨低形成 短指症候群

常染色体劣性遺伝

Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.  >> 翻訳 (Google)

771
(65.6%)

Left ventricular noncompaction
----
左室緻密化障害

Pierre-Robin シークェンス 母指欠損

Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.  >> 翻訳 (Google)

772
(65.5%)

Craniosynostosis-fibular aplasia syndrome

口蓋の異常 口蓋裂 腓骨無形成

常染色体劣性遺伝

Craniosynostosis-fibular aplasia syndrome is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases. Intelligence is normal and an autosomal recessive mode of inheritance has been proposed. There have been no further reports in the literature since 1972.  >> 翻訳 (Google)

773
(65.5%)

Tetrasomy X

内眼角贅皮 橈尺骨癒合 歯の異常 短指症候群

Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX).  >> 翻訳 (Google)

774
(65.5%)

Amyotrophic lateral sclerosis
----
筋萎縮性側索硬化症

口内乾燥症 小さい手 舌線維束性収縮 開口障害 (牙関緊急)

A neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.  >> 翻訳 (Google)

775
(65.5%)

Sturge-Weber syndrome
----
Sturge-Weber 症候群

歯肉過成長 片側萎縮 結膜毛細血管拡張

常染色体優性遺伝 孤発性

Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.  >> 翻訳 (Google)

775
(65.5%)

Systemic sclerosis
----
全身性硬化症

乾燥性 片側萎縮 狭い口

Systemic sclerosis (SSc) is a generalized disorder of small arteries, microvessels and connective tissue, characterized by fibrosis and vascular obliteration in the skin and organs, particularly the lungs, heart, and digestive tract. There are two main subsets of SSc: diffuse cutaneous SSc (dcSSc) and limited cutaneous SSc (lcSSc) (see these terms). A third subset of SSc has also been observed, called limited Systemic Sclerosis (lSSc) or systemic sclerosis sine scleroderma (see these terms).  >> 翻訳 (Google)

777
(65.5%)

Cocaine embryofetopathy

短い指末節骨 脳瘤

Cocaine embryofetopathy is a group of clinical signs observed in newborns exposed in utero to cocaine, a short-acting central nervous system stimulant used as a recreational drug through inhalation of the powder or intravenous injection. Cocaine use during pregnancy is associated with intrauterine growth restriction, low birth weight, seizures, respiratory distress (decreased apnea density and periodic breathing), feeding difficulties, irritability and lability of state, decreased behavioral and autonomic regulation, poor alertness and orientation and cognitive impairment (impaired auditory information processing , visual-spatial delay and subtle language delay) in the offspring.  >> 翻訳 (Google)

777
(65.5%)

Aphalangy-syndactyly-microcephaly syndrome

小頭 短い指末節骨

常染色体優性遺伝 常染色体劣性遺伝

An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.  >> 翻訳 (Google)

777
(65.5%)

Adams-Oliver syndrome

小頭 手欠損 短い指末節骨

A rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.  >> 翻訳 (Google)

780
(65.4%)

Alacrimia-choreoathetosis-liver dysfunction syndrome

Lagopthalmos 指骨硬化症 肢端四肢中部短縮 顔面筋緊張低下

常染色体劣性遺伝

A rare, genetic, inborn error of metabolism disorder characterized by global developmental delay, hypotonia, choreoathetosis, hypo-/alacrimia, and liver dysfunction which manifests with elevated liver transanimases and hepatocyte cytoplasmic storage material or vacuolization on liver biposy. Additional features reported include acquired microcephaly, hypo-/areflexia, seizures, peripheral neuropathy, intellectual and language/speech disability, additional ocular anomalies and EEG and brain imaging abnomalities.  >> 翻訳 (Google)

781
(65.4%)

Syndromic X-linked intellectual disability due to JARID1C mutation

上顎低形成 短い手掌 高口蓋

X連鎖劣性遺伝

Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.  >> 翻訳 (Google)

782
(65.4%)

Axial spondylometaphyseal dysplasia

上向きの鼻孔 四肢近位短縮 眼瞼裂斜下

常染色体劣性遺伝

Axial spondylometaphyseal dysplasia is a rare type of spondylometaphyseal dysplasia characterized by metaphyseal changes of the truncal-juxtatruncal bones associated with retinal dystrophy. Patients typically present progressive postnatal growth failure with rhizomelic shortening of the limbs, a deformed, hypoplastic thorax and retinitis pigmentosa or pigmentary retinal degeneration. Radiographic findings include short ribs with flared, cupped anterior ends, mild platyspondyly, lacy ilia and metaphyseal dysplasia of the proximal femora.  >> 翻訳 (Google)

782
(65.4%)

Juvenile glaucoma
----
若年性緑内障

外反(眼瞼) 片側萎縮

A rare autosomal dominant open angle glaucoma, characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment.  >> 翻訳 (Google)

782
(65.4%)

Hypertrichosis cubiti

小肢症 眼瞼の異常 顔の異常

Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.  >> 翻訳 (Google)

782
(65.4%)

Linear nevus sebaceus syndrome

内眼角外方偏位 片側萎縮 顔面非対称

体細胞モザイク

Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).  >> 翻訳 (Google)

782
(65.4%)

Neurofibromatosis type 1
----
神経線維腫症1型

片側萎縮 眼瞼の異常 顔面非対称

常染色体優性遺伝

Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.  >> 翻訳 (Google)

787
(65.4%)

Tetraamelia-multiple malformations syndrome

4肢無肢症 口腔裂 小顎 狭い口

Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.  >> 翻訳 (Google)

788
(65.4%)

Spondyloepiphyseal dysplasia congenita
----
脊椎骨端異形成, 先天型

口蓋裂 小肢症

常染色体優性遺伝

Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.  >> 翻訳 (Google)

788
(65.4%)

Septo-optic dysplasia spectrum

口蓋裂 片側萎縮

常染色体優性遺伝 常染色体劣性遺伝

Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.  >> 翻訳 (Google)

790
(65.4%)

3q13 microdeletion syndrome

内眼角贅皮 手の異常 泉門と頭蓋骨縫合の異常 長い人中

常染色体優性遺伝

3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present.  >> 翻訳 (Google)

790
(65.4%)

Monosomy 9q22.3

三角頭蓋 内眼角贅皮 手掌小孔 長い人中

Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children.  >> 翻訳 (Google)

792
(65.4%)

Spondylometaphyseal dysplasia, Schmidt type
----
脊椎骨幹端異形成, Algerian 型

小肢症 短い長管骨 近視

常染色体優性遺伝

Spondylometaphyseal dysplasia, Schmidt type is characterized by short stature, myopia, ,small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.  >> 翻訳 (Google)

793
(65.3%)

X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome

下顎突出 先細りの指 手掌横線 薄い上口唇唇紅部

X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding.  >> 翻訳 (Google)

793
(65.3%)

Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome

下顎突出 先細りの指 短い人中

793
(65.3%)

TMEM70-related mitochondrial encephalo-cardio-myopathy

下顎後退 屈指 幅広い口 短い人中

常染色体劣性遺伝

Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is 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)

796
(65.3%)

Hyperphalangy

Pierre-Robin シークェンス 小顎 歯髄石 短い母趾 短指症候群

Hyperphalangy is a congenital, non-syndromic limb malformation characterized by the presence of an accessory phalanx between metacarpal/metatarsal and proximal phalanx, or between any two other phalanges of a digit, excluding the thumb. Hypherphalangy is almost always bilateral and patients present no more than five digits and no other skeletal anomalies.  >> 翻訳 (Google)

796
(65.3%)

Laron syndrome
----
Laron 症候群

小顎 歯萌出遅延 短い趾 短指症候群 高い額

常染色体劣性遺伝

Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.  >> 翻訳 (Google)

798
(65.3%)

Xq12-q13.3 duplication syndrome

下口唇唇紅部外反 内眼角贅皮 小頭 第2-3 合趾症

Xq12-q13.3 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome X, characterized by global developmental delay, autistic behavior, microcephaly and facial dysmorphism (including down-slanting palpebral fissures, depressed nasal bridge, anteverted nares, long philtrum, down-slanting corners of the mouth). Seizures have also been reported in some patients.  >> 翻訳 (Google)

799
(65.2%)

Lethal hemolytic anemia-genital anomalies syndrome

小顎 狭い口 薄い唇紅部縁

A rare syndrome characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions (at 6 and 12 weeks gestation) but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. Although the parents were not known to be consanguineous, they shared a French-Canadian and American Indian ethnic origin.  >> 翻訳 (Google)

799
(65.2%)

Congenital unilateral hypoplasia of depressor anguli oris

下口唇の異常 口蓋裂 小顎

常染色体優性遺伝

Congenital unilateral hypoplasia of depressor anguli oris is a congenital anomaly, characterized by the unilateral hypoplasia/agenesis of the depressor anguli oris muscle, resulting in an asymmetric crying facies in neonatal period/ infancy (drooping of one corner of the mouth during crying) while eye closure, nasolabial fold and forehead wrinkling are symmetric. While it can be isolated, this anomaly is also seen in 22q11.2 deletion syndrome (see this term) and can be accompanied by other major congenital anomalies of the cardiovascular system, as well as less frequently the musculoskeletal, cervicofacial, respiratory, genitourinary, and, rarely, endocrine systems. When isolated, the condition is cosmetically insignificant as the infant gets older (as the muscle does not contribute significantly to facial expression in childhood/ adulthood).  >> 翻訳 (Google)