799
(65.2%)

Mucolipidosis type IV
----
ムコリピドーシスIV型

下口唇唇紅部外反 小顎

常染色体劣性遺伝

Mucolipidosis type IV (ML IV) is a lysosomal storage disease characterised clinically by psychomotor retardation and visual abnormalities including corneal clouding, retinal degeneration, or strabismus.  >> 翻訳 (Google)

799
(65.2%)

WAGR syndrome
----
Wilms 腫瘍-無虹彩症-泌尿生殖器奇形-精神遅滞症候群 (WAGR)

下口唇唇紅部外反 小顎

常染色体優性遺伝 体細胞突然変 連続遺伝子症候群

A rare genetic disorder characterized by an unusual complex of congenital developmental abnormalities with intellectual disability, and an increased risk of developing Wilms tumor.  >> 翻訳 (Google)

803
(65.2%)

Cole-Carpenter syndrome

小顎 歯エナメル質異常 眼瞼裂斜下 骨幹端の異常

An extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).  >> 翻訳 (Google)

803
(65.2%)

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome

内反膝 内眼角外方偏位 小顎 短い硬口蓋

Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (mild eyelid ptosis, xanthelasma, anterverted nostrils, bifid nasal tip, short palate), severe muscle wasting and cachexia, retinitis pigmentosa, numerous lentigines and café-au-lait spots, as well as mild, soft tissue syndactyly. Additional features include nasal speech, chest asymmetry, pectus excavatum, genu varum, pes planus, and thyroid papillary carcinoma and diffuse enlargement. There have been no further description in the literature since 1984.  >> 翻訳 (Google)

803
(65.2%)

Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

小顎 歯間隔離 眼瞼裂斜上 長管骨骨折

803
(65.2%)

Zellweger syndrome
----
ツェルウェーガー症候群

内眼角贅皮 小顎 舌の異常 骨端点状石灰化

A rare peroxisome biogenesis disorder (the most severe variant of Peroxisome biogenesis disorder spectrum) characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.  >> 翻訳 (Google)

807
(65.2%)

Fetal trimethadione syndrome
----
胎児性トリメタディオン症候群

両側性単一手掌横線 内眼角贅皮 小顎 高口蓋

A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects.  >> 翻訳 (Google)

807
(65.2%)

Subaortic stenosis-short stature syndrome
----
大動脈弁下狭窄-低身長症候群

内眼角贅皮 小歯 小顎 手根骨癒合症

常染色体劣性遺伝

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the association of short stature and progressive discrete subaortic stenosis. Additional variable manifestations include upturned nose, voice and vocal cord abnormalities, obstructive lung disease, inguinal hernia, kyphoscoliosis and, occasionally, epicanthus, strabismus, microphthalmos and widely spaced teeth. There have been no further descriptions in the literature since 1984.  >> 翻訳 (Google)

809
(65.2%)

Proteus syndrome
----
Proteus 症候群

中手骨の異常 指の異常 歯肉過成長 眼瞼裂斜下 頭蓋顔面過骨症

体細胞突然変 孤発性

Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.  >> 翻訳 (Google)

810
(65.1%)

FRAXE intellectual disability

内眼角贅皮 分厚い唇紅部縁 大頭 第5指弯指

X連鎖遺伝 X連鎖劣性遺伝

FRAXE is a form of nonsyndromic X-linked mental retardation (NS-XLMR) characterized by mild intellectual deficit. FRAXE is the most common form of NS-XLMR.  >> 翻訳 (Google)

810
(65.1%)

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

くも指 下口唇唇紅部外反 内眼角贅皮 小頭

常染色体優性遺伝 連続遺伝子症候群 孤発性

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)

810
(65.1%)

Ichthyosis follicularis-alopecia-photophobia syndrome

口唇炎 小頭 屈指 手の異常 眼瞼の異常

常染色体優性遺伝 X連鎖劣性遺伝

Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth.  >> 翻訳 (Google)

810
(65.1%)

Costello syndrome
----
Costello 症候群

内眼角贅皮 分厚い下口唇唇紅部 大頭 指の尺側偏位

常染色体優性遺伝 孤発性

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.  >> 翻訳 (Google)

814
(65.1%)

Mesomelic dysplasia, Nievergelt type

大きな顔 小肢症 橈尺骨癒合 橈骨無形成/低形成

常染色体優性遺伝

815
(65.0%)

Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome

下口唇唇紅部外反 大頭 短指症候群

A rare syndromic endocrine disease characterized by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia, hypothalamic dysfunction and neurobehavioral disorders. Central hypothyroidism, endocrine anomalies, electrolyte imbalances and respiratory failure may also be associated.  >> 翻訳 (Google)

816
(65.0%)

Cono-spondylar dysplasia

上向きの鼻孔 短い上腕骨

Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies.  >> 翻訳 (Google)

817
(65.0%)

Fibular aplasia-complex brachydactyly syndrome

小肢症 尺骨の異常 狭い鼻梁 短指症候群

常染色体劣性遺伝

A rare syndrome characterised by severe reduction or absence of the fibula and complex brachydactyly. Less than 30 cases have been described in the literature so far. The syndrome is inherited in an autosomal recessive manner and is caused by mutations in the cartilage-derived morphogenetic protein-1 gene (WCDMP1).  >> 翻訳 (Google)

818
(65.0%)

Werner syndrome
----
Werner 症候群 (WRN)

口腔新生物 小さい手 小肢症 狭い顔

常染色体劣性遺伝

Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.  >> 翻訳 (Google)

819
(65.0%)

Mosaic trisomy 22

片側性橈骨無形成 頭蓋顔面非対称

Mosaic trisomy 22 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by prenatal and postnatal growth delay, mild to severe intellectual disability, hemiatrophy, webbed neck, ocular and cutaneous pigmentary anomalies, craniofacial dysmorphic features (e.g. microcephaly, upslanted palpebral fissures, ptosis, ear malformations, flat nasal bridge, micrognathia) and cardiac abnormalities (including ventricular and atrial septal defect, pulmonary or aortic stenosis). Hearing loss and limb malformations (e.g. cubitus valgus, syn/brachydactyly), as well as renal and genital anomalies, have also been reported.  >> 翻訳 (Google)

820
(64.9%)

Microcephalic osteodysplastic dysplasia, Saul-Wilson type

平坦な頬 歯状突起低形成 短い手掌

Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterized by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.).  >> 翻訳 (Google)

821
(64.9%)

Pseudoleprechaunism syndrome, Patterson type

Abnormal mandible condylar process morphology 外反膝 大きな手 目立つ鼻

孤発性

Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.  >> 翻訳 (Google)

822
(64.9%)

Nephrogenic diabetes insipidus-intracranial calcification syndrome

小顎 眼瞼裂斜下 齲歯

This syndrome is characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism.  >> 翻訳 (Google)

822
(64.9%)

Aniridia-renal agenesis-psychomotor retardation syndrome

内眼角外方偏位 口角下垂 小顎

常染色体劣性遺伝

An extremely rare syndrome reported in two siblings of non consanguineous parents that is characterized by the association of ocular abnormalities (partial aniridia, congenital glaucoma, telecanthus) with frontal bossing, hypertelorism, unilateral renal agenesis and mild psychomotor delay. There have been no further descriptions in the literature since 1974.  >> 翻訳 (Google)

822
(64.9%)

3-phosphoserine phosphatase deficiency

小顎 幅広い口 眼瞼浮腫

常染色体劣性遺伝

3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).  >> 翻訳 (Google)

822
(64.9%)

Deafness with labyrinthine aplasia, microtia, and microdontia

小顎 減歯症 眼瞼裂斜下

常染色体劣性遺伝

Deafness with labyrinthine aplasia, microtia, and microdontia (LAMM) is a genetic transmission deafness syndrome.  >> 翻訳 (Google)

822
(64.9%)

X-linked mandibulofacial dysostosis

内眼角贅皮 小顎 高口蓋

X連鎖遺伝 X連鎖劣性遺伝

X-linked mandibulofacial dysostosis is an extremely rare multiple congenital abnormality syndrome that is characterized by microcephaly, malar hypoplasia with downslanting palpebral fissures, highly arched palate, apparently low-set and protruding ears, micrognathia, short stature, bilateral hearing loss, and learning disability. Occasionally, additional features have been observed such as bilateral cryptorchidism, cardiac valvular lesions, body asymmetry, and pectus excavatum.  >> 翻訳 (Google)

822
(64.9%)

1p21.3 microdeletion syndrome

小顎 幅広い口 眼瞼裂斜上

1p21.3 microdeletion syndrome is an extremely rare chromosomal anomaly characterized by severe speech and language delay, intellectual deficiency, autism spectrum disorder(see this term).  >> 翻訳 (Google)

822
(64.9%)

ICF syndrome
----
ICF症候群

内眼角贅皮 小顎 巨舌

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.  >> 翻訳 (Google)

822
(64.9%)

ADULT syndrome
----
ADULT 症候群

小顎後退 歯の異常 眼瞼癒着

常染色体優性遺伝

A rare ectodermal dysplasia syndrome characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.  >> 翻訳 (Google)

822
(64.9%)

Alopecia-epilepsy-pyorrhea-intellectual disability syndrome

小顎 歯の異常 睫毛の異常

常染色体優性遺伝

A rare genetic syndromic intellectual disability that is characterized by congenital permanent alopecia universalis, intellectual disability, psychomotor epilepsy and periodontitis (pyorrhea). Total permanent alopecia and pyorrhea are invariably concomitant while intellectual disability and psychomotor epilepsy are observed in most patients. No other abnormality of nails or skin (apart from absence of hair) has been reported. Transmission is autosomal dominant.  >> 翻訳 (Google)

822
(64.9%)

8p11.2 deletion syndrome

内眼角贅皮 小顎 高口蓋

8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.  >> 翻訳 (Google)

822
(64.9%)

17p11.2 microduplication syndrome

小顎 幅広い口 眼瞼裂斜下

孤発性

17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.  >> 翻訳 (Google)

822
(64.9%)

Johanson-Blizzard syndrome
----
Johanson-Blizzard 症候群

小顎 歯の異常 睫毛欠損

常染色体劣性遺伝

Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.  >> 翻訳 (Google)

822
(64.9%)

Microphthalmia with linear skin defects syndrome

小顎 歯エナメル質異常 眼瞼の異常

MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.  >> 翻訳 (Google)

822
(64.9%)

Trichothiodystrophy
----
裂毛症

Hypoplasia of mandible relative to maxilla 内眼角贅皮 齲歯

Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins).  >> 翻訳 (Google)

836
(64.9%)

Jeune syndrome
----
短肋骨性胸郭異形成 1+/- 多指症

小肢症 短い足 短指症候群 腎不全

Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.  >> 翻訳 (Google)

837
(64.9%)

Metaphyseal chondrodysplasia, Schmid type
----
骨幹端軟骨異形成, Schmid 型 (MCDS)

前頭突出, 額突出 四肢成長不全 小顎 短指症候群

常染色体優性遺伝

Schmid metaphyseal chondrodysplasia is a rare disorder characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.  >> 翻訳 (Google)

837
(64.9%)

Greenberg dysplasia
----
Greenberg 異形成

小肢症 小顎 短指症候群 顔面中部後退

常染色体劣性遺伝

Greenberg dysplasia is 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)

839
(64.9%)

Microcornea-glaucoma-absent frontal sinuses syndrome

口蓋骨突起 (口蓋隆起) 内眼角贅皮 前頭洞欠損

常染色体優性遺伝

Microcornea-glaucoma-absent frontal sinuses syndrome is characterised by microcornea, glaucoma and absent frontal sinuses. Less 10 cases have been described so far. The mode of transmission appears to be autosomal dominant.  >> 翻訳 (Google)

839
(64.9%)

SIX2-related frontonasal dysplasia

副鼻腔欠損/低形成 目立つ口蓋隆起 逆内眼角贅皮

841
(64.9%)

Dysostosis, Stanescu type

上顎低形成 小肢症 巨舌 短指症候群

常染色体優性遺伝

Stanescu type dysostosis is a rare form of osteosclerosis.  >> 翻訳 (Google)

842
(64.8%)

Omenn syndrome
----
Omenn 症候群

眉毛の無形成/低形成 短い趾

常染色体劣性遺伝

Omenn syndrome (OS) is an inflammatory condition characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly, associated with severe combined immunodeficiency (SCID; see this term).  >> 翻訳 (Google)

843
(64.8%)

Multiple epiphyseal dysplasia, Beighton type

狭い口 短い手掌

常染色体優性遺伝

Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.  >> 翻訳 (Google)

843
(64.8%)

Cardiospondylocarpofacial syndrome
----
心脊椎手根骨顔症候群

歯不正配列 短い手掌

常染色体優性遺伝

Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.  >> 翻訳 (Google)

843
(64.8%)

Short stature-valvular heart disease-characteristic facies syndrome

小さい手 歯の異常

常染色体優性遺伝

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

843
(64.8%)

Grubben-de Cock-Borghgraef syndrome

小さい手 歯の異常

常染色体劣性遺伝

Grubben-de Cock-Borghgraef syndrome is a rare intellectual disability syndrome characterized by pre- and postnatal growth deficiency, generalized muscular hypotonia, developmental delay (particularly of speech and language), hypotrophy of distal extremities, small and puffy hands and feet, eczematous skin and dental anomalies (i.e. small, widely-spaced teeth). Partial agenesis of the corpus callosum and a selective immunoglobulin IgG2 subclass deficiency have also been reported in some patients.  >> 翻訳 (Google)

843
(64.8%)

Corneodermatoosseous syndrome

歯肉炎 短い手掌

常染色体優性遺伝

A rare, genetic, ectodermal dysplasia syndrome characterized by corneal epithelial changes (ranging from roughening to nodular irregularities), diffuse palmoplantar hyperkertosis with thickened, erythematous, scaly lesions affecting the elbows, knees and knuckles, distal onycholysis, brachydactyly accompanied by a single transverse palmar crease, short stature, premature birth, and increased susceptibility to tooth decay. Ocular symptoms include photophobia, reduced night vision, burning and watery eyes, and varying visual acuity. There have been no further descriptions in the literature since 1984.  >> 翻訳 (Google)

843
(64.8%)

Muenke syndrome
----
Muenke 症候群

平坦な頬 短い手掌 短い足 高狭口蓋

常染色体優性遺伝

Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.  >> 翻訳 (Google)

849
(64.8%)

Short fifth metacarpals-insulin resistance syndrome

短い第5中手骨 鼻閉

Short fifth metacarpals-insulin resistance syndrome is characterised by bilateral shortening of the fifth fingers and fifth metacarpals. It has been described in several members of one family. Some members of the family also had spherocytosis and insulin resistance. Transmission is autosomal dominant.  >> 翻訳 (Google)

849
(64.8%)

Multiple synostoses syndrome
----
足根骨/手根骨/指趾骨癒合

幅広い母指 短い手掌 顔面非対称

Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.  >> 翻訳 (Google)

849
(64.8%)

Peripheral dysostosis
----
末梢性異骨症

平坦な顔 短い中手骨

常染色体優性遺伝

Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.  >> 翻訳 (Google)

849
(64.8%)

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

丸い顔 全中手骨短縮

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; see this term) but no evidence of resistance to parathyroid hormone (PTH), which is seen in other forms of pseudohypoparathyroidism (PHP; see this term).  >> 翻訳 (Google)

849
(64.8%)

Refsum disease
----
レフサム病

無嗅覚 短い中手骨

常染色体劣性遺伝

A metabolic disease characterized by anosmia, cataract, early-onset retinitis pigmentosa and possible neurological manifestations, including peripheral neuropathy and cerebellar ataxia. Other features can be deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.  >> 翻訳 (Google)

854
(64.7%)

46,XX disorder of sex development-skeletal anomalies syndrome

下顎顆低形成 変形した上腕骨 小顎

常染色体劣性遺伝

46,XX disorder of sex development-skeletal anomalies syndrome is characterised by primary amenorrhoea, ambiguous external genitalia, and bone abnormalities (hypoplasia of the mandibular condyles, hypoplasia of the maxilla, ulnar dislocation of the radial heads, etc.). It has been described in two sisters born to consanguineous parents.  >> 翻訳 (Google)

854
(64.7%)

Chondroectodermal dysplasia with night blindness

小顎 幅広い上腕骨 歯形態異常

Chondroectodermal dysplasia with night blindness is a rare genetic bone development disorder characterized by proportionate short stature, nail dysplasia (enlarged, convex, hypertrophic nails), hypodontia and night blindness. Osteopenia, a tendency to present fractures, talipes varus with abnormal gait, ear infections, and watering eyes due to narrow tear ducts are frequently associated. Radiologically patients present delayed bone age on wrist X-rays, platyspondyly, and broad metaphyses of humeri with dense and thickened growth plates.  >> 翻訳 (Google)

856
(64.7%)

Meckel syndrome
----
Meckel 症候群1型

口蓋裂 小顎 軸後性多指症 長管骨湾曲

Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.  >> 翻訳 (Google)

857
(64.7%)

Primary hypergonadotropic hypogonadism-partial alopecia syndrome

三指節母指 小頭 眉毛の異常 薄い上口唇唇紅部

常染色体劣性遺伝

This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia.  >> 翻訳 (Google)

858
(64.7%)

Trisomy X
----
トリソミーX

内眼角贅皮 小頭 橈尺骨癒合 第5指弯指

Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX).  >> 翻訳 (Google)

859
(64.7%)

Holzgreve syndrome
----
Holzgreve 症候群

口蓋裂 塔状頭 多指症 尺骨の異常

常染色体劣性遺伝

Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988.  >> 翻訳 (Google)

860
(64.7%)

Spondyloepimetaphyseal dysplasia, aggrecan type
----
脊椎骨端骨幹端異形成, aggrecan 型

下顎突出 幅広い母指 短指症候群

常染色体劣性遺伝

Spondyloepimetaphyseal dysplasia, aggrecan type is a new form of skeletal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.  >> 翻訳 (Google)

861
(64.7%)

Richieri Costa-da Silva syndrome

外反膝 狭い口 眼瞼裂狭小 腰椎椎体骨の前後径減少

常染色体劣性遺伝

Richieri Costa-da Silva syndrome is a rare, genetic, myotonic syndrome characterized by childhood onset of progressive and severe myotonia (with generalized muscular hypertophy and progressive impairment of gait), short stature, skeletal abnormalities (including pectus carinatum, short, wedge-shaped thoracolumbar vertebrae, kyphoscoliosis, genu valgum, irregular femoral epiphyses), and mild to moderate intellectual deficiency. No facial dysmorphism nor joint limitation is associated. There have been no further descriptions in the literature since 1984.  >> 翻訳 (Google)

862
(64.6%)

Spondylometaphyseal dysplasia, 'corner fracture' type

Fallot 四徴症 小肢症 歯状突起低形成

常染色体優性遺伝

Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).  >> 翻訳 (Google)

863
(64.6%)

Müllerian aplasia and hyperandrogenism

分厚い眉毛 外反肘 短い人中 短い頸部 短指症候群

常染色体優性遺伝

864
(64.5%)

Atypical Rett syndrome

中手骨の異常 小頭 幅広い口 第5指弯指 長い人中

A rare neurodevelopmental disorder that is diagnosed when a child presents with a Rett-like syndrome but does not fulfill all the diagnostic criteria for typical Rett syndrome (classic/typical RTT).  >> 翻訳 (Google)

865
(64.5%)

Renal hypoplasia
----
腎低形成

三指節母指 内眼角外方偏位 唇裂 小頭 裂手

Renal hypoplasia is a developmental anomaly in which one or both kidneys (unilateral or bilateral renal hypoplasia, respectively (see these terms)) have a deficit in the number of nephrons and may be small. Oligomeganephronia (see this term) represents a severe variant of hypoplasia in which nephron number is reduced by 80% and nephrons are markedly hypertrophied.  >> 翻訳 (Google)

866
(64.5%)

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

下顎鈍角 橈尺骨癒合 橈骨無形成/低形成

常染色体優性遺伝

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

867
(64.5%)

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome

口蓋裂 平坦な頬 掌蹠脳回状皮膚 眼瞼裂斜下

常染色体優性遺伝

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome, also known as Beare-Stevenson syndrome (BSS), is a severe form of syndromic craniosynostosis, characterized by a variable degree of craniosynostosis, with cloverleaf skull reported in over 50% of cases, cutis gyrata, corduroy-like linear striations in the skin, acanthosis nigricans, skin tags, and choanal stenosis or atresia). Additional features include facial features similar to Crouzon disease, ear defects (conductive hearing loss, posteriorly angulated ears, stenotic auditory canals, preauricular furrows, and narrow ear canals), hirsutism, a prominent umbilical stump, and genitorurinary anomalies (anteriorly placed anus, hypoplasic labia, hypospadias). BSS is associated with a poor outcome as patients present an elevated risk for sudden death in their first year of life. Significant developmental delay and intellectual disability are observed in most patients who survive infancy.  >> 翻訳 (Google)

868
(64.5%)

Anotia
----
無耳症

二分した舌 小肢症 小顎 顔面麻痺

A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.  >> 翻訳 (Google)

868
(64.5%)

Progressive hemifacial atrophy

小顎 片側萎縮 高口蓋

孤発性

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

870
(64.5%)

Blepharo-cheilo-odontic syndrome

両側性口唇口蓋裂 合指症 眼瞼の異常

Blepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.  >> 翻訳 (Google)

870
(64.5%)

Blepharonasofacial malformation syndrome
----
眼瞼-鼻-顔面奇形症候群

内眼角贅皮 口蓋裂 合指症 非正中口唇裂

常染色体優性遺伝 X連鎖優性遺伝

Blepharonasofacial syndrome is a rare otorhinolaryngological malformation syndrome characterized by a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability.  >> 翻訳 (Google)

872
(64.4%)

Arachnodactyly-abnormal ossification-intellectual disability syndrome

くも指 小顎 眼瞼裂斜下

A multiple congenital developmental anomalies syndrome characterized by arachnodactyly of fingers and toes associated with craniofacial dysmorphism (including abnormal cranial ossification, frontal bossing, flat calvaria, shallow deformed orbits resulting in exophtalmos, midface hypoplasia and micrognathia), feeding difficulties in infancy, infantile muscular hypotonia, and developmental delay leading to intellectual disability.  >> 翻訳 (Google)

872
(64.4%)

White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome

内転母指 小顎 幅広い鼻梁 眼瞼裂斜下

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by severe white matter hypoplasia, corpus callosum agenesis or extreme hypoplasia, severe intellectual disability, failure to thrive and minor midline facial dysmorphism (including hypertelorism, broad nasal root, micrognathia). There have been no further descriptions in the literature since 1993.  >> 翻訳 (Google)

872
(64.4%)

Braddock syndrome

内眼角贅皮 小顎 軸前性多指症

常染色体劣性遺伝

Braddock syndrome is a rare malformation syndrome with multiple congenital abnormalities, described in 2 siblings, that is characterized by VACTERL -like association in combination with pulmonary hypertension, laryngeal webs, blue sclerae, abnormal ears, persistent growth deficiency and normal intellect.  >> 翻訳 (Google)

872
(64.4%)

Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome

内転母指 小顎 眼瞼裂狭小 額傾斜

X連鎖遺伝

Holoprosencephaly-hypokinesia syndrome is an extremely rare and fatal central nervous system malformation occurring during embryogenesis, presenting prenatally with holoprosencephaly and fetal hypokinesia as major features. Other manifestations include microcephaly, multiple contractures and intrauterine growth restriction. There have been no further descriptions in the literature since 1988.  >> 翻訳 (Google)

872
(64.4%)

10q22.3q23.3 microdeletion syndrome

くも指 内眼角贅皮 小顎後退

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

872
(64.4%)

Congenital cataracts-facial dysmorphism-neuropathy syndrome

小顎 屈指 長い睫毛

常染色体劣性遺伝

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.  >> 翻訳 (Google)

872
(64.4%)

49,XXXYY syndrome

Finger clinodactyly 内眼角贅皮 小顎

49,XXXYY syndrome is a rare gonosome anomaly syndrome characterized by a eunuchoid habitus with gynecoid fat distribution and shape, normal to tall stature, moderate to severe intellectual disability, distinctive facial features (e.g. prominent forehead, epicanthic folds, broad nasal bridge, prognathism), gynecomastia, hypogonadism, cryptorchidism, small penis and behavioral abnormalities (incl. solitary, passive disposition but prone to aggressive outbursts, autistic). Skeletal malformations, such as delayed bone age, fifth finger clinodactyly, elbow malformations and slow molar development, may also be associated.  >> 翻訳 (Google)

872
(64.4%)

Monosomy 13q34

内眼角贅皮 小顎 軸後性多指症

Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum.  >> 翻訳 (Google)

880
(64.4%)

Microcephaly-cleft palate-abnormal retinal pigmentation syndrome

口蓋裂 小顎 屈指

Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983.  >> 翻訳 (Google)

880
(64.4%)

Bowen-Conradi syndrome
----
Bowen-Conradi 症候群

口腔裂 小顎 第5指弯指

常染色体劣性遺伝

Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, macrocephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.  >> 翻訳 (Google)

880
(64.4%)

Cerebrocostomandibular syndrome
----
大脳肋骨下顎症候群

口蓋裂 小顎 第5指弯指 舌根沈下

常染色体優性遺伝 常染色体劣性遺伝

Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.  >> 翻訳 (Google)

880
(64.4%)

Fetal akinesia deformation sequence
----
Pena-Shokeir 症候群 I 型

口蓋裂 小顎 屈指

常染色体劣性遺伝

The fetal akinesia/hypokinesia sequence (or Pena-Shokeir syndrome type I) is characterized by multiple joint contractures, facial anomalies and pulmonary hypoplasia. Whatever the cause, the common feature of this sequence is decreased foetal activity.  >> 翻訳 (Google)

880
(64.4%)

Familial visceral myopathy

くも指 口蓋裂 小顎

Familial visceral myopathy is a rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n.  >> 翻訳 (Google)

880
(64.4%)

Proximal 16p11.2 microdeletion syndrome

口蓋裂 多指症 小顎

連続遺伝子症候群

The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.  >> 翻訳 (Google)

880
(64.4%)

Holoprosencephaly-postaxial polydactyly syndrome

口蓋裂 小顎 狭い口 軸後性多指症

常染色体劣性遺伝

Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13 (see this term).  >> 翻訳 (Google)

880
(64.4%)

Loeys-Dietz syndrome
----
ロイス・ディーツ症候群

くも指 二分した口蓋垂 口腔裂 小顎

Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.  >> 翻訳 (Google)

888
(64.4%)

Spinocerebellar ataxia-dysmorphism syndrome

内眼角贅皮 分厚い唇紅部縁 外反肘 大頭 細い長管骨

常染色体劣性遺伝

Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive.  >> 翻訳 (Google)

889
(64.2%)

Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome

大頭 扁平足 眼瞼裂斜下 長い人中

常染色体優性遺伝

890
(64.2%)

Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

小肢症 溝舌 短指症候群

Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome is a rare genetic syndromic intellectual disability characterized by intellectual disability, polyneuropathy, short stature and short limbs, brachydactyly, and premature ovarian insufficiency. Only one familial case with three affected females was described and there have been no further descriptions in the literature since 1971.  >> 翻訳 (Google)

891
(64.2%)

Crouzon syndrome-acanthosis nigricans syndrome

上顎低形成 中手骨の異常 口蓋の異常 短指症候群

常染色体優性遺伝

Crouzon syndrome with acanthosis nigricans (CAN) is a very rare, clinically heterogeneous form of faciocraniostenosis with Crouzon-like features and premature synostosis of cranial sutures (Crouzon disease, see this term), associated with acanthosis nigricans (AN; see this term).  >> 翻訳 (Google)

892
(64.2%)

Berardinelli-Seip congenital lipodystrophy

下顎突出 口腔の異常 大きな手

Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).  >> 翻訳 (Google)

893
(64.2%)

Epiphyseal dysplasia-hearing loss-dysmorphism syndrome

側弯 内眼角贅皮 母指の異常 長い人中

Epiphyseal dysplasia-hearing loss-dysmorphism syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, short stature, sensorineural hearing impairment, facial dysmorphism (incl. epicanthus, broad, depressed nasal bridge, broad, fleshy nasal tip, mildly anteverted nares, deep nasolabial folds, broad mouth with thin upper lip) and skeletal anomalies (incl. abnormally placed thumbs, brachydactyly, scoliosis, dysplastic carpal bones). Patients also present severe behavior disturbances (aggression, hyperactivity), as well as hypopigmented skin lesions and hypoplastic digital patterns. There have been no further descriptions in the literature since 1992.  >> 翻訳 (Google)

893
(64.2%)

Freeman-Sheldon syndrome
----
関節拘縮症, 遠位, 2A型 (DA2A)

側弯 指の尺側偏位 眼瞼裂斜下 長い人中

常染色体優性遺伝 常染色体劣性遺伝

Freeman-Sheldon syndrome (FSS) is a very rare, multiple congenital contractures syndrome characterized by a microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. FSS is the most severe form of distal arthrogryposis.  >> 翻訳 (Google)

895
(64.1%)

RAPADILINO syndrome
----
RAPADILINO 症候群

母指欠損 細い鼻 膝蓋骨無形成無形成

常染色体劣性遺伝

A rare syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.  >> 翻訳 (Google)

895
(64.1%)

Humero-radial synostosis

後鼻孔狭窄 母指無形成/低形成 膝蓋骨低形成

常染色体優性遺伝 常染色体劣性遺伝

Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present.  >> 翻訳 (Google)

895
(64.1%)

Angioosteohypertrophic syndrome

乏指症 顔面非対称

孤発性

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)

895
(64.1%)

Glomus tumor
----
グロムス腫瘍

Small finger 鼻出血

899
(64.1%)

Sialuria
----
シアル酸尿

内眼角贅皮 脊椎変形 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)

900
(64.1%)

Focal dermal hypoplasia
----
部分皮膚低形成

多指症 歯の異常 眼窩嚢胞 短い肋骨 骨端の異常

X連鎖優性遺伝

A rare multiple congenital anomalies/dysmorphic syndrome characterized by abnormalities in ectodermal- and mesodermal-derived tissues, classically manifesting with skin abnormalities, limb defects, ocular malformations, and mild facial dysmorphism.  >> 翻訳 (Google)