501
(70.2%)

Radial hemimelia
----
橈骨欠損

橈骨無形成/低形成 母指の異常 第1中手骨無形成

Radial hemimelia is a congenital longitudinal deficiency of the radius bone of the forearm characterized by partial or total absence of the radius.  >> 翻訳 (Google)

502
(70.1%)

Proboscis lateralis

正中口唇裂 眼瞼裂 脳瘤

Proboscis lateralis (PL) is a rare congenital facial abnormality characterized by failed development of the external nose on one side that is replaced by a tubular structure composed of skin and soft tissue usually attached at the inner canthus of the eye and therefore often associated with maldevelopment of the nasal cavity or paranasal sinuses of the affected side. PL is also associated with other craniofacial abnormalities such as orbital anomalies, cleft lip/palate, frontal encephalocele and holoprosencephaly (see these terms).  >> 翻訳 (Google)

502
(70.1%)

Frontofacionasal dysplasia
----
前頭顔鼻異形成

上眼瞼コロボーマ 短頭 非正中口唇裂

常染色体劣性遺伝

A rare congenital malformation characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes).  >> 翻訳 (Google)

504
(70.1%)

VACTERL with hydrocephalus

下顎後退 小顎 橈骨低形成

常染色体劣性遺伝 X連鎖劣性遺伝

VACTERL is an acronym for Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects. VACTERL associated with hydrocephalus has rarely been reported and is thought to be an autosomal recessive anomaly. The condition is described as a uniformly lethal or developmentally devastating disorder distinct from the VATER association.  >> 翻訳 (Google)

505
(70.1%)

Gorlin syndrome
----
基底細胞母斑症候群 (BCNS)

くも指 下顎突出 内眼角贅皮 唇裂 短指症候群

常染色体優性遺伝 Heterogeneous

A rare hereditary disorder due to autosomal dominant transmission with hamartosis characterized by multiple early-onset basal cell carcinoma (BCC), multiple jaw keratocysts and skeletal abnormalities.  >> 翻訳 (Google)

506
(70.0%)

Pseudoachondroplasia
----
偽軟骨無形成

扁平脊椎 歯状突起低形成 短い中手骨 短い手掌

常染色体優性遺伝

Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis.  >> 翻訳 (Google)

507
(70.0%)

Xp22.13p22.2 duplication syndrome

下顎突出 小さい手 眼瞼裂斜下 高口蓋

Xp22.13p22.2 duplication syndrome is a rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence.  >> 翻訳 (Google)

507
(70.0%)

SHORT syndrome
----
SHORT 症候群

下顎の異常 内眼角外方偏位 歯の異常 短い手掌

常染色体優性遺伝

A rare disorder characterized by multiple congenital anomalies. The name is a mneumonic for the common features observed in SHORT syndrome that include; short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay. Other common manifestations of SHORT syndrome are mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and a recognizable facial gestalt.  >> 翻訳 (Google)

509
(70.0%)

Cleft velum

小顎 指屈曲拘縮 眼瞼皮膚弛緩症 薄い唇紅部縁

常染色体優性遺伝 多因子性遺伝

Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.  >> 翻訳 (Google)

510
(69.9%)

Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome

下顎突出 橈骨低形成

常染色体優性遺伝

Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait.  >> 翻訳 (Google)

511
(69.9%)

Cleidocranial dysplasia
----
鎖骨頭蓋骨異形成

中手骨の異常 唇裂 小顎 短指症候群 舌根沈下

常染色体優性遺伝

Cleidocranial dysplasia (CCD) is a rare genetic developmental abnormality of bone characterized by hypoplastic or aplastic clavicles, persistence of wide-open fontanels and sutures and multiple dental abnormalities.  >> 翻訳 (Google)

512
(69.9%)

3q27.3 microdeletion syndrome

くも指 下顎突出 眼瞼裂斜下 薄い上口唇唇紅部

3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.  >> 翻訳 (Google)

512
(69.9%)

Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome

下顎突出 指の尺側偏位 眼瞼裂の異常なサイズ 長い人中

Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome is a multiple congenital anomalies syndrome, reported in the offsprings of a consanguineous couple and characterized by multiple congenital skeletal (dolichocephaly, skull asymmetry, camptodactyly, clubfoot), muscular (muscle hypoplasia), ocular (anophthalmia, buphthalmos, retinal detachment, aniridia (see this term)) and cardiac (prolapse of tricuspid valves, mitral and tricuspid insufficiency) abnormalities. An autosomal recessive inheritance with variable expressivity was suspected. There have been no further descriptions in the literature since 1992.  >> 翻訳 (Google)

512
(69.9%)

Renpenning syndrome

下顎突出 内眼角贅皮 母指の異常 短い人中

X連鎖劣性遺伝

Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature.  >> 翻訳 (Google)

512
(69.9%)

Monosomy 22

下顎後退 内眼角贅皮 手掌横線 第5指弯指 長い人中

A rare autosomal anomaly syndrome, with a highly variable phenotype, typically characterized by short length, joint abnormalities (e.g. dysplasia, hyperextensibility, contractures, dislocation), congenital cardiac defects, and craniofacial dysmorphism (incl. microcephaly, a high, prominent, narrow and/or hairy forehead, epicanthus, upward-slanting and/or small palpebral fissures, broad, high or depressed nasal bridge and malformed ears). Delayed motor development and intellectual disability is observed in patients not presenting early demise.  >> 翻訳 (Google)

512
(69.9%)

Hennekam syndrome

下顎後退 内眼角贅皮 屈指 短い人中

Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.  >> 翻訳 (Google)

512
(69.9%)

X-linked intellectual disability, Snyder type

くも指 下顎突出 平坦な人中 眼瞼裂斜上

X連鎖劣性遺伝

X-linked intellectual disability, Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia, asthenic build with diminished muscle mass, severe generalized psychomotor delay, unsteady gait and moderate to severe intellectual disability, as well as a long, thin, asymmetrical face with prominent lower lip, long fingers and toes and nasal, dysarthric or absent speech. Bone abnormalities (e.g., osteoporosis, kyphoscoliosis, fractures, joint contractures) are also characteristic. Myoclonic, or myoclonic-like, seizures and renal abnormalities have been associated in some patients.  >> 翻訳 (Google)

512
(69.9%)

2p15p16.1 microdeletion syndrome

下顎後退 先細りの指 内眼角贅皮 平坦な人中

孤発性

2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.  >> 翻訳 (Google)

512
(69.9%)

Monosomy 18q

くも指 下顎突出 内眼角贅皮 手掌皮膚紋理異常 短い人中

常染色体優性遺伝 孤発性

Monosomy 18q is a partial deletion of the long arm of chromosome 18 characterized by highly variable phenotype, most commonly including hypotonia, developmental delay, short stature, growth hormone deficiency, hearing loss and external ear anomalies, intellectual disability, palatal defects, dysmorphic facial features, skeletal anomalies (foot deformities, tapering fingers, scoliosis) and mood disorders.  >> 翻訳 (Google)

512
(69.9%)

PMM2-CDG

下顎後退 内眼角贅皮 薄い上口唇唇紅部 長い指

常染色体劣性遺伝

PMM2-CDG is the most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults.  >> 翻訳 (Google)

521
(69.9%)

Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

内眼角贅皮 小顎 短い趾 高口蓋

常染色体優性遺伝 連続遺伝子症候群

A syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.  >> 翻訳 (Google)

522
(69.9%)

Atresia of small intestine

唇裂 無指 無舌

常染色体劣性遺伝 多因子性遺伝

A special form of intestinal atresia with absence of mesentery, which is most likely due to an intrauterine intestinal vascular accident. Newborns are usually preterm infants with low birth-weights, that encounter feeding difficulties (including vomiting with initial feeds, which may later worsened and the abdomen becomes progressively distended) as well as failure to thrive. Affected children present disrupted bowel loops assuming a spiral configuration resembling an 'apple peel' and may have less than half of the normal length of the small bowel and a physiologically short bowel. This disorder is characterized by jejunal atresia near the ligament of Treitz, foreshortened bowel, and a large mesenteric gap. The bowel distal to the atresia is precariously supplied. It may be a manifestation of cystic fibrosis and the most important cause of mortality is short bowel syndrome, encountered in 65% of cases.  >> 翻訳 (Google)

523
(69.8%)

Distal Xq28 microduplication syndrome

Clinodactyly 上眼瞼浮腫 上顎低形成 分厚い下口唇唇紅部

Distal Xq28 microduplication syndrome is a rare, hereditary, syndromic intellectual disability characterized by cognitive impairment, behavioral and psychiatric problems, recurrent infections, atopic diseases, and distinctive facial features in males. Females are clinically asymptomatic or mildly affected, presenting mild learning difficulties and facial dysmorphism.  >> 翻訳 (Google)

524
(69.8%)

Müllerian duct anomalies-limb anomalies syndrome

小肢症 小頭 尺骨無形成/低形成 短い上腕骨

常染色体優性遺伝

Mullerian duct anomalies-limb anomalies syndrome is characterised by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant.  >> 翻訳 (Google)

524
(69.8%)

Diaphragmatic defect-limb deficiency-skull defect syndrome

尺骨無形成/低形成 腓骨末節骨無形成/低形成 頭蓋骨骨化減少

常染色体劣性遺伝

Diaphragmatic defect-limb deficiency-skull defect syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated malformations.  >> 翻訳 (Google)

526
(69.8%)

Aplasia cutis congenita
----
先天性皮膚形成不全

眼球上デルモイド 短い指

常染色体優性遺伝 常染色体劣性遺伝

A rare skin disorder characterized by localized absence of skin that is usually located on the scalp but can occur anywhere on the body including the face, trunk and extremities. ACC may occasionally be associated with other anomalies.  >> 翻訳 (Google)

527
(69.8%)

8q22.1 microdeletion syndrome

上顎低形成 内眼角外方偏位 屈指 長い人中

常染色体優性遺伝 常染色体劣性遺伝 孤発性

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance.  >> 翻訳 (Google)

528
(69.8%)

Symptomatic form of Coffin-Lowry syndrome in female carriers

下口唇唇紅部外反 前頭突出, 額突出 大きな手 眼瞼裂斜下

528
(69.8%)

Ring chromosome 22 syndrome

内眼角贅皮 分厚い唇紅部縁 大きな手 小頭

Ring chromosome 22 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioral characteristics.  >> 翻訳 (Google)

530
(69.7%)

Cleft palate-lateral synechia syndrome
----
顎癒合症

下口唇唇紅部外反 小顎 眼瞼裂狭小

常染色体優性遺伝

Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner.  >> 翻訳 (Google)

530
(69.7%)

Microcephaly-deafness-intellectual disability syndrome

下口唇唇紅部外反 内眼角贅皮 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)

530
(69.7%)

Non-distal trisomy 10q

下口唇唇紅部外反 小顎 眼瞼裂斜下

Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism.  >> 翻訳 (Google)

530
(69.7%)

Deafness-intellectual disability syndrome, Martin-Probst type

内眼角贅皮 分厚い下口唇唇紅部 小顎

X連鎖劣性遺伝

Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.  >> 翻訳 (Google)

530
(69.7%)

Distal trisomy 6p

小顎 睫毛の異常 薄い唇紅部縁

Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay.  >> 翻訳 (Google)

530
(69.7%)

Craniosynostosis-anal anomalies-porokeratosis syndrome

分厚い唇紅部縁 小顎 睫毛欠損

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)

536
(69.7%)

Arterial tortuosity syndrome
----
動脈蛇行症候群

くも指 大腿骨骨頭骨端の無血管性壊死 平坦な頬 正中口唇口蓋裂 眼瞼裂狭小

常染色体劣性遺伝

A rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.  >> 翻訳 (Google)

537
(69.6%)

Angel-shaped phalango-epiphyseal dysplasia

減歯症 短い第1中手骨 短い第5指中節骨

常染色体優性遺伝

A form of acromelic dysplasia characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.  >> 翻訳 (Google)

537
(69.6%)

Carpenter syndrome
----
Carpenter 症候群1

幅広い母指 減歯症 短い指

Carpenter syndrome is a subtype of a family of genetic disorders known as acrocephalopolysyndactyly (ACPS) disorders.  >> 翻訳 (Google)

539
(69.6%)

Xq27.3q28 duplication syndrome

小さい手 短い足 薄い唇紅部縁

X連鎖劣性遺伝

Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.  >> 翻訳 (Google)

540
(69.6%)

Waardenburg syndrome
----
ワールデンブルグ症候群

Tetraphocomelia 内眼角外方偏位 口唇の異常

Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. WS is classified into four clinical and genetic phenotypes.  >> 翻訳 (Google)

541
(69.6%)

Multiple sulfatase deficiency
----
多発性スルファターゼ欠損症 (MSD)

分厚い眉毛 小頭 幅広い母指 平坦な人中

常染色体劣性遺伝

Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus.  >> 翻訳 (Google)

542
(69.5%)

Prader-Willi-like syndrome

アーモンド型眼瞼裂 小さい手 短い足 肢端四肢中部短縮 開口

Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities.  >> 翻訳 (Google)

542
(69.5%)

Cartilage-hair hypoplasia
----
軟骨毛髪低形成

内眼角贅皮 口蓋の異常 小肢症 短い手掌

常染色体劣性遺伝

Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.  >> 翻訳 (Google)

542
(69.5%)

Prader-Willi syndrome
----
Prader-Willi 症候群

片側萎縮 眼瞼裂斜下 短い手掌 高口蓋

孤発性

Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems.  >> 翻訳 (Google)

545
(69.5%)

Ear-patella-short stature syndrome

分厚い唇紅部縁 小顎 狭い口 膝蓋骨無形成無形成

Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).  >> 翻訳 (Google)

546
(69.4%)

Beckwith-Wiedemann syndrome
----
Beckwith-Wiedemann 症候群 (BWS)

下顎突出 口蓋裂 幅広い口 短い大腿骨

常染色体優性遺伝

Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.  >> 翻訳 (Google)

547
(69.4%)

Microcephalic osteodysplastic primordial dwarfism type II
----
小頭骨異形成原発性小人症 II

下顎後退 小歯 小肢症 眼瞼裂斜下 短指症候群

常染色体劣性遺伝

'Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a form of microcephalic primordial dwarfism (MPD; see this term) characterized by severe pre- and postnatal growth retardation, with marked microcephaly in proportion to body size, skeletal dysplasia, abnormal dentition, insulin resistance, and increased risk for cerebrovascular disease.'  >> 翻訳 (Google)

548
(69.4%)

Joubert syndrome with Jeune asphyxiating thoracic dystrophy

内眼角贅皮 四肢近位短縮性腕短縮 小顎 短指症候群

Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.  >> 翻訳 (Google)

549
(69.4%)

Craniosynostosis, Herrmann-Opitz type

口蓋裂 小肢症 小顎 短指症候群

Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (incl. syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987.  >> 翻訳 (Google)

550
(69.4%)

Spondyloepiphyseal dysplasia tarda
----
遅延性脊椎骨端異形成

上肢成長不全 歯状突起低形成 短い頸部

Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.  >> 翻訳 (Google)

551
(69.3%)

Edinburgh malformation syndrome
----
エジンバラ奇形症候群

小顎 細い指 薄い唇紅部縁 連続眉毛

常染色体優性遺伝

Edinburgh malformation syndrome is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by consistently abnormal facial appearance, true or apparent hydrocephalus, motor and cognitive developmental delay, failure to thrive (feeding difficulties, vomiting, chest infections) and death within a few months of birth. Carp mouth, hairiness of the forehead, neonatal hyperbilirubinemia and advanced bone age may also be associated. There have been no further descriptions in the literature since 1991.  >> 翻訳 (Google)

551
(69.3%)

12q14 microdeletion syndrome

分厚い眉毛 小顎 第5指弯指 薄い唇紅部縁

12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis.  >> 翻訳 (Google)

553
(69.3%)

Paternal 20q13.2q13.3 microdeletion syndrome

小顎 眉毛の無形成/低形成 短い人中

Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.  >> 翻訳 (Google)

554
(69.3%)

Summitt syndrome
----
Summitt 症候群

内眼角贅皮 狭い顔 短い手掌 短い第4中手骨

常染色体劣性遺伝

Summitt syndrome is an extremely rare disorder originally described in two brothers and characterized by mild to severe craniosynostosis and syndactyly, obesity, and normal intelligence. Acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum and marked obesity were later described in another patient. There have been no further descriptions in the literature since 1979. Summitt syndrome could be a variant of Carpenter syndrome.  >> 翻訳 (Google)

554
(69.3%)

Chondrodysplasia-disorder of sex development syndrome

内眼角外方偏位 小肢症 短い中手骨

常染色体劣性遺伝

Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development (see this term), reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (see this term; normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic discs), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested.  >> 翻訳 (Google)

556
(69.3%)

Toriello-Carey syndrome
----
脳梁欠損-顔面奇形-Robin シークェンス

Pierre-Robin シークェンス 下顎後退 内眼角外方偏位 短指症候群

常染色体劣性遺伝

Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.  >> 翻訳 (Google)

557
(69.2%)

Townes-Brocks syndrome

幅広い口 幅広い母指 眼瞼裂狭小 第3趾無形成/低形成

A rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.  >> 翻訳 (Google)

558
(69.2%)

Marshall-Smith syndrome
----
Marshall- Smith 症候群

大きな手 小顎 浅い眼窩 細い長管骨 開口

常染色体優性遺伝 孤発性

Marshall-Smith syndrome is a rare genetic disease characterized by tall stature and advanced bone age at birth.  >> 翻訳 (Google)

559
(69.2%)

Robinow syndrome
----
ロビノウ症候群

下顎後退 前頭突出, 額突出 唇裂 四肢中部短縮 短指症候群

Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.  >> 翻訳 (Google)

560
(69.2%)

Mesomelic dwarfism-cleft palate-camptodactyly syndrome

下顎後退 中手骨形態異常 口蓋裂 屈指 薄い唇紅部縁

常染色体劣性遺伝

A rare syndrome 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)

561
(69.1%)

Brachydactyly type E
----
短指症, E1 型

丸い顔 短い中足骨 短い指末節骨

Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.  >> 翻訳 (Google)

562
(69.1%)

Facial dysmorphism-shawl scrotum-joint laxity syndrome

下顎突出 内眼角贅皮 外反肘 外反膝 平坦な人中

Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.  >> 翻訳 (Google)

563
(69.1%)

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

小顎 浅い眼窩 短い人中

常染色体優性遺伝

A rare, genetic, primary lipodystrophy syndrome characterized by severe developmental delay and intellectual disability, hypertonia, hyperreflexia, microcephaly, tightly adherent skin, an aged appearance, severe generalized lipodystrophy, and distinct facial dysmorphism which includes large prominent eyes, narrow nasal bridge, tented upper lip vermilion, an open mouth, and high-arched palate. Laboratory analysis of serum and urine are normal.  >> 翻訳 (Google)

564
(69.1%)

X-linked intellectual disability, Stevenson type

テント状上口唇唇紅部 分厚い眉毛 外反膝 大きな手 眼瞼浮腫

X-linked intellectual disability, Stevenson type is characterised by intellectual deficit, hypotonia, absent deep tendon reflexes, tapered fingers and excessive fingerprint arches, genu valgum, a characteristic face and small teeth. It has been described in four males from two generations of one family. The causative gene appears to be located in the q13 region of the X chromosome.  >> 翻訳 (Google)

565
(69.1%)

X-linked intellectual disability with marfanoid habitus

小顎 歯の異常 短い人中 短指症候群

X連鎖劣性遺伝

The Lujan-Fryns syndrome or X-linked mental retardation (XLMR) with marfanoid habitus syndrome is a syndromic X-linked form of intellectual disability, associated with tall, marfanoid stature, distinct facial dysmorphism and behavioral problems.  >> 翻訳 (Google)

566
(69.1%)

FATCO syndrome

手欠損 腓骨低形成 腓骨無形成 裂手

A rare, genetic, congenital limb malformation syndrome characterized by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. Upper limb oligosyndactyly and cleft lip/palate may also be associated.  >> 翻訳 (Google)

566
(69.1%)

Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome

反復性中耳炎 短い手掌 短い足 短い長管骨

常染色体劣性遺伝

Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.  >> 翻訳 (Google)

568
(69.0%)

Ectopia cordis
----
異所性心

Absent soft palate アザラシ肢 両側性口唇裂 小顎

569
(69.0%)

Schisis association
----
破裂連合

口蓋裂 小肢症 片側性口唇裂

Schisis association describes the combination of two or more of the following anomalies: neural tube defects (e.g. anencephaly, encephalocele, spina bifida cystica), cleft lip/palate, omphalocele and congenital diaphragmatic hernia (see these terms). These anomalies are associated at a higher frequency than would be expected with random combination rates.  >> 翻訳 (Google)

570
(69.0%)

Mandibulofacial dysostosis-microcephaly syndrome

内眼角贅皮 口蓋裂 小顎 軸前性多指症

常染色体優性遺伝 常染色体劣性遺伝

Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.  >> 翻訳 (Google)

570
(69.0%)

Mosaic trisomy 14

口蓋裂 小顎 屈指 眼瞼裂狭小

Mosaic trisomy 14 is a rare chromosomal anomaly disorder, with a highly variable phenotype, principally characterized by growth and developmental delay, intellectual disability, body asymmetry/hypotonia, congenital heart defects, genitourinary abnormalities (cryptorchidism, micropenis, large clitoris, labial swelling), and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly, abnormal palpebral fissure, hypertelorism, ear abnormalities, broad nose, low-set ears, micro/retro-gnathia, and cleft or highly arched palate.  >> 翻訳 (Google)

570
(69.0%)

Blepharophimosis-intellectual disability syndrome, SBBYS type

小顎 眼瞼裂狭小 第5指弯指 粘膜下硬口蓋裂

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)

570
(69.0%)

Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome

くも指 内眼角贅皮 口蓋裂 小顎

常染色体劣性遺伝

A syndrome that combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation.  >> 翻訳 (Google)

570
(69.0%)

Mosaic variegated aneuploidy syndrome
----
多彩異数性モザイク症候群

内眼角贅皮 口蓋裂 小顎 第5指弯指

Mosaic variegated aneuploidy (MVA) syndrome is a chromosomal anomaly characterized by multiple mosaic aneuploidies that leads to a variety of phenotypic abnormalities and cancer predisposition.  >> 翻訳 (Google)

570
(69.0%)

Restrictive dermopathy

小顎 屈指 眼瞼裂斜下 粘膜下硬口蓋裂

常染色体優性遺伝 常染色体劣性遺伝 Heterogeneous

A congenital genodermatosis with skin/mucosae involvement, characterized by very tight and thin skin with erosions and scaling, associated to a typical facial dysmorphism, arthrogryposis multiplex, fetal akinesia or hypokinesia deformation sequence (FADS) and pulmonary hypoplasia without neurological abnormalities.  >> 翻訳 (Google)

576
(68.9%)

Microgastria-limb reduction defect syndrome

前頭突出, 額突出 橈骨の異常 短い母指 鎖骨無形成

孤発性

Microgastria-limb reduction defect syndrome is a rare multiple congenital anomalies syndrome characterized by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported.  >> 翻訳 (Google)

577
(68.9%)

Skeletal dysplasia-epilepsy-short stature syndrome

下顎突出 歯の異常 短い指末節骨

常染色体劣性遺伝

Skeletal dysplasia-epilepsy-short stature syndrome is characterized by moderate to severe intellectual deficit, seizures, short stature, and skeletal dysplasia. It has been described in seven patients. Other manifestations can be associated (retinal abnormalities, brachydactyly, prognathism, dental malocclusion). It is transmitted as an autosomal recessive trait.  >> 翻訳 (Google)

577
(68.9%)

Albers-Schönberg osteopetrosis

下顎骨髄炎 歯の異常 短い指末節骨

常染色体優性遺伝 Heterogeneous

A sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).  >> 翻訳 (Google)

579
(68.9%)

Lethal Kniest-like dysplasia

口蓋裂 四肢中部短縮/四肢近位短縮性四肢短縮 短い肋骨 短指症候群

常染色体劣性遺伝

A rare, lethal, congenital, chondrodysplasia disorder characterized by dumbbell-shaped long bones with markedly shortened diaphyses and metaphyseal irregularities associated with a "Swiss cheese" appearance of the cartilage matrix, as well as distinctive changes in the growth plate and resting cartilage, resulting in death in the neonatal period. There have been no further descriptions in the literature since 1983.  >> 翻訳 (Google)

580
(68.9%)

Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome

二分した口蓋垂 小顎 幅広い母指 第5指近位指間(PIP)関節拘縮 高位の弓形眉毛

Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome is a rare, non-acquired pituitary hormone deficiency syndrome characterized by severe, congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature.  >> 翻訳 (Google)

581
(68.9%)

Dyschondrosteosis-nephritis syndrome

小歯 小肢症 橈側湾曲 橈骨無形成/低形成

常染色体優性遺伝

Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity (see this term), with hereditary nephritis.  >> 翻訳 (Google)

582
(68.9%)

Kleefstra syndrome

下顎突出 内反尖足 眼瞼裂斜上 長い人中

Kleefstra syndrome (KS) is a genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.  >> 翻訳 (Google)

583
(68.8%)

Autosomal recessive distal osteolysis syndrome

上顎低形成 歯の異常 短い指末節骨

常染色体劣性遺伝

An early-onset distal osteolysis characterised by severe resorption of the hands and feet and absence of the distal and middle phalanges. It has been described in a son and daughter born to consanguineous parents. Other manifestations include distal muscular hypertrophy, flexion contractures, short stature, mild intellectual deficit and characteristic facies (maxillary hypoplasia, exophthalmos, and a broad nasal tip). It is transmitted as an autosomal recessive trait.  >> 翻訳 (Google)

584
(68.8%)

19q13.11 microdeletion syndrome

下顎後退 疎な/欠損した睫毛 第5指弯指 薄い唇紅部縁

常染色体優性遺伝

The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.  >> 翻訳 (Google)

585
(68.8%)

2q24 microdeletion syndrome

握り手 眼瞼裂斜下 短い人中 短い頸部

2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.  >> 翻訳 (Google)

586
(68.8%)

Infantile spasms-broad thumbs syndrome

凸の鼻梁 小顎 幅広い母指 眼瞼裂斜下

Infantile spasms-broad thumbs syndrome is a rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990.  >> 翻訳 (Google)

587
(68.7%)

Holt-Oram syndrome
----
Holt-Oram 症候群 (HOS1)

小顎 橈尺骨癒合 母指欠損 落ちくぼんだ鼻梁

常染色体優性遺伝

A genetic syndrome with limb reduction defects characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.  >> 翻訳 (Google)

588
(68.7%)

Arachnoid cyst
----
くも膜嚢胞

二重睫毛 片側萎縮 短指症候群 舌萎縮

常染色体劣性遺伝

A disorder with extraparenchymal cysts, intra-arachnoidal collections of fluid, the composition of which is close to that of cerebrospinal fluid. They are often asymptomatic.  >> 翻訳 (Google)

589
(68.7%)

Osteosarcoma
----
骨肉腫

母指欠損 減歯症 結膜浮腫

Osteosarcoma is a primary malignant tumour of the skeleton characterised by the direct formation of immature bone or osteoid tissue by the tumour cells.  >> 翻訳 (Google)

590
(68.7%)

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

下顎突出 分厚い唇紅部縁 尺骨の異常 巨舌

常染色体劣性遺伝

An autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).  >> 翻訳 (Google)

591
(68.7%)

Cutis marmorata telangiectatica congenita
----
先天性毛細血管拡張性大理石様皮膚

口腔裂 小顎 短い下肢

常染色体劣性遺伝

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.  >> 翻訳 (Google)

592
(68.5%)

48,XYYY syndrome

内眼角贅皮 橈尺骨癒合 短い頸部 長い人中

48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar synostosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.  >> 翻訳 (Google)

593
(68.5%)

Otospondylomegaepiphyseal dysplasia

口蓋裂 小肢症 涙管の異常

Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.  >> 翻訳 (Google)

594
(68.5%)

Zimmermann-Laband syndrome

口蓋裂 小顎 深い手掌屈曲線 眼瞼裂斜下 長管骨の過剰管状化

Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.  >> 翻訳 (Google)

595
(68.4%)

Distal monosomy 9p

三角頭蓋 内眼角贅皮 口蓋裂 短指症候群

Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma.  >> 翻訳 (Google)

596
(68.4%)

Distal monosomy 19p13.3

くも指 上顎低形成 分厚い眉毛 短い人中

Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation).  >> 翻訳 (Google)

597
(68.4%)

Multicentric carpo-tarsal osteolysis with or without nephropathy

内眼角外方偏位 口角下垂 小顎 屈指 手根骨融解

常染色体優性遺伝

Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.  >> 翻訳 (Google)

598
(68.3%)

Persistent hyperplastic primary vitreous
----
第一次硝子体過形成遺残

小さい手 小顎 眼窩嚢胞

599
(68.3%)

Branchiootic syndrome

口唇小孔 小顎 鼻涙管の異常

Branchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).  >> 翻訳 (Google)

600
(68.2%)

X-linked intellectual disability, Siderius type

上口唇裂 側弯 大きな手 連続眉毛

X連鎖劣性遺伝

X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the PHF8 gene, localised to the p11.21 region of the X chromosome.  >> 翻訳 (Google)