361
(72.1%)

Mosaic trisomy 9

Finger clinodactyly 内眼角外方偏位 口蓋裂 小肢症 小顎

Mosaic trisomy 9 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intellectual disability, growth and developmental delay, facial dysmorphism (incl. microphthalmia, deep-set eyes, low-set, malformed ears, bulbous nose, high-arched palate, micrognathia) and congenital heart defects (e.g. ventricular septal defect), as well as urogenital (e.g. hypoplastic genitalia, cryptorchidism), skeletal (congenital joint dislocations or hyperflexion, scoliosis/kyphosis) and central nervous system anomalies (hydrocephalus, Dandy-Walker malformation). Pigmentary mosaic skin lesions along the lines of Blaschko are also frequently observed.  >> 翻訳 (Google)

361
(72.1%)

Marfan syndrome
----
Marfan 症候群(MFS)

くも指 口蓋裂 四肢近位短縮 小顎 眼瞼裂斜下

常染色体優性遺伝

Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.  >> 翻訳 (Google)

363
(72.1%)

Megalocornea-intellectual disability syndrome

先細りの指 内反膝 内眼角贅皮 小顎 短い人中

常染色体劣性遺伝

Megalocornea-intellectual disability syndrome is a rare intellectual disability syndrome most commonly characterized by megalocornea, congenital hypotonia, varying degrees of intellectual disability, psychomotor/developmental delay, seizures, and mild facial dysmorphism (including round face, frontal bossing, antimongoloid slant of the eyes, epicanthal folds, large low set ears, broad nasal base, anteverted nostrils, and long upper lip). Interfamilial and intrafamilial clinical variability has been reported.  >> 翻訳 (Google)

363
(72.1%)

Cohen syndrome
----
Cohen 症候群

くも指 外反膝 小顎 眼瞼の異常 短い人中

常染色体劣性遺伝

Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.  >> 翻訳 (Google)

365
(72.1%)

Multiple epiphyseal dysplasia, Lowry type

口蓋裂 四肢近位短縮 小顎 眼瞼裂斜上

孤発性

Multiple epiphyseal dysplasia, Lowry type is a rare primary bone dysplasia characterized by small, flat epiphyses (esp. the capital femoral epiphyses), rhizomelic shortening of limbs, cleft of secondary palate, micrognathia, mild joint contractures and facial dysmorphism (incl. mildly upward-slanting palpebral fissures, hypertelorism, broad nasal tip). Additionally reported features include scoliosis, genu valgum, mild pectus excavatum, platyspondyly, dislocated radial heads, brachydactyly, hypoplastic fibulae and talipes equinovarus.  >> 翻訳 (Google)

365
(72.1%)

Desmosterolosis
----
デスモステロール症

内眼角贅皮 口蓋裂 小肢症 小顎

常染色体劣性遺伝

Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.  >> 翻訳 (Google)

367
(72.0%)

Aymé-Gripp syndrome
----
短頭-難聴-白内障-小口-精神遅滞

先細りの指 大きな泉門 橈尺骨癒合 眼瞼裂斜下 薄い上口唇唇紅部

常染色体劣性遺伝 孤発性

Fine-Lubinsky syndrome is characterised by psychomotor delay, brachycephaly with flat face, small nose, microstomia, cleft palate, cataract, hearing loss, hypoplastic scrotum and digital anomalies.  >> 翻訳 (Google)

368
(72.0%)

Pfeiffer syndrome
----
Pfeiffer 症候群

下顎突出 幅広い母指 短い人中 短指症候群 開口

常染色体優性遺伝

Pfeiffer syndrome (PS) is a common form of acrocephalosyndactyly (see this term), a group of inherited congenital malformation disorders, characterized by variable degrees of bicoronal craniosynostosis, variable hand and foot malformations and various other associated manifestations.  >> 翻訳 (Google)

369
(71.9%)

Angelman syndrome
----
Angelman 症候群 (AS)

下顎突出 幅広い口 片側性口唇裂 短指症候群

常染色体優性遺伝 孤発性

A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features.  >> 翻訳 (Google)

370
(71.9%)

RIN2 syndrome

大頭 眼瞼裂斜下 短指症候群 長い人中

常染色体劣性遺伝

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

371
(71.8%)

Harlequin ichthyosis
----
魚鱗癬, 先天性, 常染色体劣性4B

口唇外反 外反(眼瞼) 短い足

常染色体劣性遺伝

Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.  >> 翻訳 (Google)

371
(71.8%)

Multiple endocrine neoplasia type 2
----
多発性内分泌腫瘍症2型

分厚い下口唇唇紅部 眼瞼の異常 膝蓋骨無形成無形成

Multiple endocrine neoplasia type 2 (MEN2) is a multiple endocrine neoplasia (see this term), a polyglandular cancer syndrome characterized by the occurrence of medullary thyroid carcinoma (MTC), pheochromocytoma (PCC; see these terms), in one variant, primary hyperparathyroidism (PHPT). There are three forms: MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC) (see these terms).  >> 翻訳 (Google)

373
(71.8%)

Autosomal dominant popliteal pterygium syndrome

小顎 眼瞼癒着 裂手 非正中口唇裂

常染色体優性遺伝

A rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.  >> 翻訳 (Google)

373
(71.8%)

Zlotogora-Ogur syndrome
----
口唇口蓋裂-外胚葉形成不全症候群

上口唇裂 小顎 掌蹠過角化症 眼瞼裂斜下

常染色体劣性遺伝

Zlotogora-Ogur syndrome is an ectodermal dysplasia syndrome characterized by hair, skin and teeth anomalies, facial dysmophism with cleft lip and palate, cutaneous syndactyly and, in some cases, intellectual disability.  >> 翻訳 (Google)

375
(71.8%)

Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome

内眼角外方偏位 小顎後退 第5指弯指 長い人中

Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism.  >> 翻訳 (Google)

375
(71.8%)

Toluene embryopathy
----
失調歩行-日光過敏性-低身長 (Fenton 1983)

先細りの指 内眼角贅皮 小顎 平坦な人中

A neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome.  >> 翻訳 (Google)

375
(71.8%)

17q21.31 microduplication syndrome

内眼角贅皮 小顎 短い人中 第5指弯指

The newly described 17q21.31 microduplication syndrome is associated with a broad clinical spectrum, of which behavioral disorders and poor social interaction seem to be the most consistent.  >> 翻訳 (Google)

375
(71.8%)

Non-distal trisomy 13q

小顎 睫毛の異常 軸後性多指症 長い人中

Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated.  >> 翻訳 (Google)

375
(71.8%)

Craniofacial dyssynostosis

内眼角贅皮 小顎 短い人中 第5指弯指

常染色体劣性遺伝 孤発性

Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I (see this term), venous anomalies of skull and hydrocephalus.  >> 翻訳 (Google)

375
(71.8%)

Flat face-microstomia-ear anomaly syndrome

内眼角外方偏位 小顎 屈指 長い人中

常染色体優性遺伝

Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994.  >> 翻訳 (Google)

375
(71.8%)

Fallot complex-intellectual disability-growth delay syndrome

ばち指 小顎 眼瞼裂斜下 薄い上口唇唇紅部

常染色体劣性遺伝

Fallot complex - intellectual deficit - growth delay is a rare disorder characterized by tetralogy of Fallot, minor facial anomalies, and severe intellectual deficiency and growth delay.  >> 翻訳 (Google)

375
(71.8%)

Ring chromosome 10 syndrome

先細りの指 小顎 眼瞼裂斜下 長い人中

An autosomal anomaly characterized by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic features. Congenital heart disease and genitourinary anomalies were reported in some cases.  >> 翻訳 (Google)

375
(71.8%)

Miller-Dieker syndrome
----
ミラー・ディーカー症候群

上口唇の異常 内眼角贅皮 小顎 第5指弯指

常染色体優性遺伝 連続遺伝子症候群

Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.  >> 翻訳 (Google)

375
(71.8%)

Cardiocranial syndrome, Pfeiffer type

小顎 幅広い人中 眼瞼裂斜下 細い指

常染色体優性遺伝 常染色体劣性遺伝

Pfeiffer-type cardiocranial syndrome is an extremely rare disorder recognized in less than ten patients worldwide and characterized by a congenital heart defect, sagittal craniosynostosis and severe developmental delay (growth retardation and intellectual deficit).  >> 翻訳 (Google)

375
(71.8%)

6q25 microdeletion syndrome

内眼角贅皮 小顎 第5指弯指 長い人中

6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.  >> 翻訳 (Google)

375
(71.8%)

Global developmental delay-osteopenia-ectodermal defect syndrome

Clinodactyly of the 2nd finger 内眼角贅皮 小顎 長い人中

This syndrome is characterised by the association of global developmental delay, osteopenia and skin anomalies.  >> 翻訳 (Google)

375
(71.8%)

Müllerian derivatives-lymphangiectasia-polydactyly syndrome

小顎 眼瞼裂斜下 薄い上口唇唇紅部 軸後性多指症

常染色体劣性遺伝

Müllerian derivatives-lymphangiectasia-polydactyly syndrome is characterised by prenatal linear growth deficiency, hypertrophied alveolar ridges, redundant nuchal skin, postaxial polydactyly and cryptorchidism. Mullerian duct remnants, lymphangiectasis, and renal anomalies are also present. Three cases have been described. A small penis was observed in two of these cases. The syndrome is likely to be an autosomal recessive or X-linked trait. All the reported patients died neonatally of hepatic failure.  >> 翻訳 (Google)

375
(71.8%)

Oculocerebrofacial syndrome, Kaufman type

くも指 上口唇の異常 内眼角贅皮 小顎

常染色体劣性遺伝

Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.  >> 翻訳 (Google)

375
(71.8%)

Distal monosomy 3p

内眼角贅皮 小顎 軸後性多指症 長い人中

常染色体優性遺伝

Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated.  >> 翻訳 (Google)

375
(71.8%)

16q24.3 microdeletion syndrome

小顎 平坦な人中 眼瞼裂斜上 近位母指

16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.  >> 翻訳 (Google)

375
(71.8%)

Lathosterolosis
----
ラソステロール症

内眼角贅皮 小顎 軸後性多指症 長い人中

常染色体劣性遺伝

Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.  >> 翻訳 (Google)

375
(71.8%)

Distal 22q11.2 microduplication syndrome

先細りの指 内眼角贅皮 小顎 平坦な人中

Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, hypotonia, growth retardation, velopharyngeal insufficiency, mild craniofacial dysmorphism (microcephaly, tall/broad forehead, small downslating palpebral fissures, hooded eyelids, flat nasal bridge, low posterior hairline) and digital anomalies. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, behavourial problems and seizures have also been reported.  >> 翻訳 (Google)

375
(71.8%)

Baraitser-Winter cerebrofrontofacial syndrome

内眼角贅皮 小顎 母指指骨重複 長い人中

Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients.  >> 翻訳 (Google)

375
(71.8%)

Trisomy 17p

先細りの指 小顎 平坦な人中 眼瞼裂斜下

Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features.  >> 翻訳 (Google)

375
(71.8%)

Monosomy 9p

内眼角贅皮 小顎 軸後性多指症 長い人中

常染色体優性遺伝 孤発性

Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.  >> 翻訳 (Google)

375
(71.8%)

FG syndrome type 1

小顎 母指の異常 眼瞼裂斜下 長い人中

X連鎖劣性遺伝

375
(71.8%)

7q11.23 microduplication syndrome

小顎 薄い上口唇唇紅部 長い指 長い睫毛

常染色体優性遺伝

7q11.23 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 7 characterized by a highly variable phenotype that typically manifests with mild-moderate intellectual delay (patients could be in the normal range), speech disorders (particularly of expressive language), and distinctive craniofacial features (brachycephaly, broad forehead, straight eyebows, broad nasal tip, short philtrum, thin upper lip and facial asymmetry). Hypotonia, developmental coordination disorders, behavioral problems (such as anxiety, ADHD and oppositional disorders) and various congenital anomalies, such as heart defects, diaphragmatic hernia, renal malformations and cryptorchidism, are frequently presented. Neurological abnormalities (visible on MRI) have been reported.  >> 翻訳 (Google)

375
(71.8%)

22q11.2 deletion syndrome
----
22q11.2欠失症候群

内眼角贅皮 多指症 小顎 短い人中

22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.  >> 翻訳 (Google)

399
(71.7%)

Ossification anomalies-psychomotor developmental delay syndrome

三角形の顔 小顎 浅い眼窩 短い第5指

Ossification anomalies-psychomotor developmental delay syndrome is characterised by hypomineralisation of the cranial bones, thoracic dystrophy, hypotonia, and abnormal and slender long bones due to an alteration in remodelling during ossification.  >> 翻訳 (Google)

400
(71.7%)

Acrorenal syndrome
----
先端腎症候群

口蓋裂 小顎 尺骨の異常 橈骨無形成/低形成

常染色体劣性遺伝

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

401
(71.6%)

Bannayan-Riley-Ruvalcaba syndrome
----
Cowden 症候群1

小顎 幅広い母指 狭い口蓋 長い人中

常染色体優性遺伝

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.  >> 翻訳 (Google)

402
(71.6%)

Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome

口蓋裂 小顎 短い大腿骨 短指症候群 舌根沈下

403
(71.5%)

Lymphedema-distichiasis syndrome
----
リンパ浮腫-二列睫毛症候群

上口唇裂 外反(眼瞼) 小顎

常染色体優性遺伝

Lymphedema - distichiasis is a rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations.  >> 翻訳 (Google)

403
(71.5%)

Emanuel syndrome
----
Emanuel 症候群

小顎 眼瞼裂斜上 粘膜下口唇裂

Emanuel syndrome is a constitutional genomic disorder due to the presence of a supernumerary derivative 22 chromosome and characterized by severe intellectual disability, characteristic facial dysmorphism (micrognathia, hooded eyelids, upslanting downslanting parebral fissures, deep set eyes, low hanging columnella and long philtrum), congenital heart defects and kidney abnormalities.  >> 翻訳 (Google)

405
(71.4%)

Monosomy 5p

内眼角贅皮 小さい手 小顎後退 高口蓋

孤発性

Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.  >> 翻訳 (Google)

405
(71.4%)

Hallermann-Streiff syndrome
----
Hallermann-Streiff 症候群

内眼角外方偏位 小さい手 小顎 舌の異常

孤発性

Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases.  >> 翻訳 (Google)

405
(71.4%)

Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

内眼角贅皮 小さい手 小顎 高口蓋

常染色体優性遺伝

A rare, genetic, non-syndromic cerebral malformation due to abnormal neuronal migration disease characterized by the association of cortical dysplasia and pontocerebellar hypoplasia, manifesting with global developmental delay, mild to severe intellectual disability, axial hypotonia, strabismus, nystagmus and, occasionally, optic nerve hypoplasia. Brain imaging reveals variable malformations, including frontally predominant microgyria, gyral disorganization and simplification, dysmorphic and hypertrophic basal ganglia, cerebellar vermis dysplasia, brainstem/corpus callosum hypoplasia, and/or olfactory bulbs agenesis.  >> 翻訳 (Google)

408
(71.4%)

Atelosteogenesis type III

小顎 握り手 短い長管骨 (手) 高口蓋

常染色体優性遺伝

A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.  >> 翻訳 (Google)

409
(71.4%)

Velo-facial-skeletal syndrome

内眼角贅皮 大きな手 歯の異常 短い手掌

常染色体優性遺伝

A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.  >> 翻訳 (Google)

409
(71.4%)

Autosomal recessive spastic paraplegia type 20

オーバーバイト 内眼角贅皮 小さい手 手形態異常

常染色体劣性遺伝

Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.  >> 翻訳 (Google)

411
(71.4%)

Eiken syndrome
----
Eiken 症候群

仙骨欠損 幅広い手掌 短い手掌 腓骨低形成

常染色体劣性遺伝

A rare, genetic, primary bone dysplasia syndrome characterized by multiple epiphyseal dysplasia, severely delayed ossification (mainly of the epiphyses, pubic symphysis, hands and feet), abnormal modeling of the bones in hands and feet, abnormal pelvis cartilage persistence, and mild growth retardation. Calcium, phosphate and vitamin D serum levels are typically within normal range, while parathyroid hormone serum levels are normal to slighly elevated. Oligodontia has been rarely associated.  >> 翻訳 (Google)

412
(71.3%)

49,XYYYY syndrome

小顎 橈尺骨癒合 短い第5指 粗な顔貌

49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.  >> 翻訳 (Google)

413
(71.3%)

Recombinant 8 syndrome

上口唇裂 小顎 歯の異常 膝蓋骨無形成無形成

常染色体優性遺伝

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

414
(71.3%)

Imperforate oropharynx-costovertebral anomalies syndrome

くも指 人中の異常 内眼角贅皮 肋骨欠損

Imperforate oropharynx-costovertebral anomalies syndrome is a dysostosis with predominant vertebral and costal involvement characterized by oropharyngeal atresia, mild mandibulofacial dysostosis, auricular malformations, and costovertebral anomalies (hemivertebrae, block vertebra, partial fusion of the ribs, absent ribs). There have been no further descriptions in the literature since 1989.  >> 翻訳 (Google)

415
(71.2%)

Cryptomicrotia-brachydactyly-excess fingertip arch syndrome

内眼角外方偏位 短い指末節骨

常染色体優性遺伝

Cryptomicrotia - brachydactyly - excess fingertip arch syndrome describes a combination of malformations that include bilateral cryptomicrotia, brachytelomesophalangy with short middle and distal phalanges of digits 2 through 5, hypoplastic toenails and excess fingertip arch patterns, and has been reported in one family (mother and son). Cryptomicrotia - brachydactyly - excess fingertip arch syndrome is thought to follow an autosomal dominant transmission. There have been no further descriptions in the literature since 1988.  >> 翻訳 (Google)

415
(71.2%)

Dahlberg-Borer-Newcomer syndrome

内眼角外方偏位 幅広い鼻梁 短い指末節骨

常染色体劣性遺伝 X連鎖劣性遺伝

Dahlberg-Borer-Newcomer syndrome is a very rare ectodermal dysplasia syndrome, described in 2 adult brothers, characterized by the association of hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and brachytelephalangy. Additional features include mild facial dysmorphism, hyperthricoses, and nail abnormalities.  >> 翻訳 (Google)

417
(71.2%)

Branchiogenic deafness syndrome

口蓋裂 短い指末節骨

常染色体優性遺伝

Branchiogenic deafness syndrome is a multiple congenital anomalies syndrome, described in one family to date, characterized by branchial cysts or fistulae; ear malformations; congenital hearing loss (conductive, sensorineural, and mixed); internal auditory canal hypoplasia; strabismus; trismus; abnormal fifth fingers; vitiliginous lesions, short stature; and mild learning disability. Renal and uretral abnormalities are absent.  >> 翻訳 (Google)

417
(71.2%)

Early infantile epileptic encephalopathy
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早期乳児てんかん性脳症

口蓋裂 短い指

A severe form of age-related epileptic encephalopathies characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle, and that can occur hundreds of times per day, leading to psychomotor impairment and death.  >> 翻訳 (Google)

419
(71.2%)

Nasopalpebral lipoma-coloboma syndrome
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眼瞼コロボーマ-脂肪腫症候群

上顎低形成 幅広い額 眼瞼裂 第5指弯指

常染色体優性遺伝

Nasopalpebral lipoma-coloboma-telecanthus syndrome is characterized by nasopalpebral lipomas, bilateral lid coloboma, and telecanthus.  >> 翻訳 (Google)

420
(71.2%)

Verloove Vanhorick-Brubakk syndrome

口蓋裂 四肢成長不全 小顎 非正中口唇裂

Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.  >> 翻訳 (Google)