901
(64.1%)

Microform holoprosencephaly

口蓋裂 小頭 橈骨頭低形成 短い人中 肘脱臼

Microform holoprosencephaly is a benign form of holoprosencephaly (HPE; see this term) characterized by midline defects without the typical HPE defect in brain cleavage.  >> 翻訳 (Google)

902
(64.0%)

X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome

Finger clinodactyly 下顎後退 内眼角贅皮 異常な切歯数

X連鎖劣性遺伝

An X-linked syndromic intellectual disability characterized by intellectual disability, subcortical cerebral atrophy, dental anomalies, patella luxation, lower back skin dimple, and dysmorphic facial features.  >> 翻訳 (Google)

902
(64.0%)

Intellectual disability, Buenos-Aires type

下顎突出 眼瞼裂斜下 第5指弯指 高口蓋

常染色体劣性遺伝

Intellectual disability, Buenos-Aires type is a rare intellectual disability syndrome characterized by growth retardation, microcephaly, characteristic facial features (including narrow forehead, bushy eyebrows, hypertelorism, small, downward-slanting palpebral fissures with blepharoptosis, malformed and low-set ears, broad straight nose, thin upper lip, and a wide, tented mouth), developmental delay, intellectual disability, speech disorder, and multiple organ malformations (e.g. ventricular septal defect, megaloureter, dilated renal pelvis). Additional manifestations reported include neurocutaneous lesions (including palmoplantar hyperkeratosis), internal hydrocephalus, and bilateral partial soft-tissue syndactyly of second and third toe.  >> 翻訳 (Google)

904
(64.0%)

Craniofacial-deafness-hand syndrome
----
頭蓋顔面-難聴-手症候群 (CDHS)

上顎低形成 手関節の異常 指の尺側偏位 狭い口 眼瞼裂斜下

常染色体優性遺伝

Craniofacial-deafness-hand syndrome (CDHS) is an autosomal dominant disorder, described in one family to date, characterized by characteristic facial features (flat facial profile with normal calvarium, hypertelorism, small downslanting palpebral fissures, hypoplastic nose with button tip and slitlike nares, small ''pursed'' mouth), profound sensorineural deafness, and ulnar deviations and contractures of the hand. CDHS is thought to be an allelic variant of Waardenburg syndrome (see this term) that can be distinguished from the latter by its imaging findings and distinct facial features.  >> 翻訳 (Google)

904
(64.0%)

Dislocation of the hip-dysmorphism syndrome

内眼角贅皮 前上顎突出 指偏位 狭い口

常染色体優性遺伝

Dislocation of the hip-dysmorphism syndrome is a rare multiple congenital anomalies syndrome characterized by bilateral congenital dislocation of the hip, characteristic facial features (flat mid-face, hypertelorism, epicanthus, puffiness around the eyes, broad nasal bridge, carp-shaped mouth), and joint hyperextensibility. Congenital heart defects, congenital dislocation of the knee, congenital inguinal hernia, and vesicoureteric reflux have also been reported. There have been no further descriptions in the literature since 1995.  >> 翻訳 (Google)

906
(63.9%)

Nijmegen breakage syndrome
----
Nijmegen 染色体断裂症候群

下顎後退 小頭 眼瞼の異常 非正中口唇裂

常染色体劣性遺伝

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.  >> 翻訳 (Google)

907
(63.9%)

Microcephaly-seizures-intellectual disability-heart disease syndrome

内眼角贅皮 短い肋骨 軸後性多指症

A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989.  >> 翻訳 (Google)

908
(63.9%)

Emery-Nelson syndrome
----
手足変形-扁平な顔貌

中手骨指骨(MP)関節拘縮 短指症候群 長い人中 高口蓋

常染色体優性遺伝

Emery-Nelson syndrome is a rare congenital limb malformation syndrome characterized by facial dysmorphism (high forehead, depressed nasal bridge, long philtrum, flat malar region, high arched palate), short stature and deformities of the hands and feet (small hands/feet, flexion contractures of the first three metacarpophalangeal joints, extension contractures of the thumbs at the interphalangeal joints, clawed toes, mild pes cavus). Additional features include neonatal hypotonia, thin and shiny skin of the hands/feet, ridged nails, dry and coarse hair, mild weakness of the orbicularis oculi muscles and occasional ventricular extrasystoles. Intellectual disability may be present. There have been no further descriptions in the literature since 1970.  >> 翻訳 (Google)

909
(63.9%)

Absence deformity of leg-cataract syndrome

下肢発育不全 視力障害

常染色体劣性遺伝

A very rare syndromic limb malformation described in two distantly related boys. It is characterized by absence deformity of the left leg, progressive scoliosis, short stature, congenital cataract associated with dysplasia of the optic nerve. No intellectual deficit has been observed.  >> 翻訳 (Google)

909
(63.9%)

Spondyloepimetaphyseal dysplasia, Missouri type
----
脊椎骨端骨幹端異形成, ミズーリ型

短い下肢 骨幹端の異常

常染色体優性遺伝

Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.  >> 翻訳 (Google)

911
(63.8%)

Mandibuloacral dysplasia

小顎 手の末節骨のの骨融解病変 高口蓋

Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.  >> 翻訳 (Google)

911
(63.8%)

Autosomal semi-dominant severe lipodystrophic laminopathy

小顎 指骨の骨融解病変 歯萌出促進 顔面脂肪組織増加

913
(63.8%)

Congenital radioulnar synostosis
----
先天性橈尺骨癒合症

前方橈骨頭脱臼 小顎 舌根沈下

常染色体優性遺伝

Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.  >> 翻訳 (Google)

914
(63.8%)

Craniolenticulosutural dysplasia
----
頭蓋水晶体縫合異形成 (CLSD)

上顎低形成 幅広い口 平坦な人中 高い腸骨翼

常染色体劣性遺伝

Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.  >> 翻訳 (Google)

915
(63.8%)

Brachydactyly-elbow wrist dysplasia syndrome

大頭 尺骨の異常 橈骨無形成/低形成

常染色体優性遺伝

Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.  >> 翻訳 (Google)

916
(63.7%)

Patent urachus
----
尿膜管開存症

内眼角外方偏位 小顎 脛骨湾曲

Patent urachus is a type of congenital urachal anomaly (see this term) characterized by a persistent communication between the bladder and the umbilicus, secondary to non occlusion of the urachal lumen, manifesting as clear drainage from the umbilicus.  >> 翻訳 (Google)

916
(63.7%)

Arthrochalasia Ehlers-Danlos syndrome

内眼角贅皮 大腿骨骨頭骨端の無血管性壊死 小顎

常染色体優性遺伝

Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility.  >> 翻訳 (Google)

916
(63.7%)

Dermatosparaxis Ehlers-Danlos syndrome

内眼角贅皮 大腿骨骨頭骨端の無血管性壊死 小顎

常染色体劣性遺伝

Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. The dermatosparaxis type (formerly called EDS type VIIC) is marked by extremely fragile tissues, hyperextensible skin and easy bruising. Facial skin contains numerous folds, as in the cutis laxa syndrome. Umbilical or inguinal hernias have also been described. Dermatosparaxis is extremely rare and few cases only have been reported. The disease is transmitted as an autosomal recessive trait. It is due to N-terminal procollagen I peptidase deficiency causing abnormal maturation of the alpha1 (I) and alpha2 (I) collagen I pro-chains, in which the aminoterminal propeptide is incorrectly cleaved. The causative gene, ADAMTS2, has been localised to 5q23. The homozygous mutation Q225X was present in 80% of cases subjected to molecular analysis. There is no specific treatment available for this disease, but symptomatic management should be offered in a specialised centre.  >> 翻訳 (Google)

919
(63.7%)

Hypochondroplasia
----
軟骨低形成症

大頭 短い趾 短い長管骨 短指症候群

常染色体優性遺伝

Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.  >> 翻訳 (Google)

920
(63.7%)

Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome

下顎突出 短指症候群 高口蓋

常染色体優性遺伝

This syndrome is characterised principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as psychomotor retardation, psychosis, brachydactyly, and costovertebral dysplasia may also be present.  >> 翻訳 (Google)

920
(63.7%)

Rabson-Mendenhall syndrome
----
松果体過形成-インスリン抵抗性糖尿病-身体異常

下顎突出 歯の異常 短指症候群

常染色体劣性遺伝

A rare syndrome that belongs to the group of extreme insulin-resistance syndromes (which also includes leprechaunism, the lipodystrophies, and the type A and B insulin resistance syndromes).  >> 翻訳 (Google)

922
(63.7%)

Ascher syndrome
----
眼瞼弛緩症-二重上口唇

上口唇の異常 指偏位 眼瞼の異常

常染色体優性遺伝

A very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported.  >> 翻訳 (Google)

922
(63.7%)

Brain malformation-congenital heart disease-postaxial polydactyly syndrome

下口唇唇紅部外反 眼瞼裂斜上 軸後性多指症 長い人中

Goossens-Devriendt syndrome is characterised by intrauterine growth retardation, a congenital heart defect, postaxial polydactyly, a brain malformation, abnormal hair with temporal balding, and marked facial dysmorphism. It has been reported in two siblings from unrelated parents. One of the siblings died and the surviving patient showed postnatal growth retardation and severe developmental delay.  >> 翻訳 (Google)

924
(63.7%)

Pterygium colli-intellectual disability-digital anomalies syndrome

幅広い指末節骨 指間(IP)関節の拡大 短頭 逆内眼角贅皮

常染色体優性遺伝 X連鎖優性遺伝

A rare disorder characterized by pterygium colli, digital anomalies (abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges), and craniofacial abnormalities (brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low-set, posteriorly rotated ears). It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.  >> 翻訳 (Google)

924
(63.7%)

Greig cephalopolysyndactyly syndrome
----
Greig 頭蓋多合指症候群 (GCPS)

三角頭蓋 内眼角外方偏位 幅広い母指 軸後性多指症 高い額

常染色体優性遺伝

Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.  >> 翻訳 (Google)

926
(63.6%)

Intellectual disability-short stature-hypertelorism syndrome

幅広い額 第5指弯指 長い人中 頬骨未発達

Intellectual disability-short stature-hypertelorism syndrome is a rare genetic syndromic intellectual disability characterized by short stature, mild to moderate intellectual disability, craniofacial dysmorphism (prominent broad 'square' forehead, hypertelorism, depressed nasal bridge, broad nasal tip and anteverted nares) and early hypotonia, typically present until infancy. There have been no further descriptions in the literature since 1991.  >> 翻訳 (Google)

927
(63.5%)

Paternal uniparental disomy of chromosome X

後部毛髪線低位 短い中手骨

A uniparental disomy of paternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the father is a carrier and specific phenotype depends on the inherited disorder.  >> 翻訳 (Google)

927
(63.5%)

Spondylometaphyseal dysplasia, Sedaghatian type
----
骨幹端軟骨異形成, Sedaghatian 型

塔状頭 短い中手骨 短い手掌

常染色体劣性遺伝

Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly.  >> 翻訳 (Google)

927
(63.5%)

Senior-Loken syndrome
----
Senior-Loken 症候群1 (SLSN1)

Dandy-Walker 奇形 短い中手骨

Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.  >> 翻訳 (Google)

927
(63.5%)

Linear verrucous nevus syndrome

大頭 短い中手骨

931
(63.5%)

FGFR2-related bent bone dysplasia

下肢湾曲 小顎 歯肉過成長 短指症候群

常染色体優性遺伝

FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophtalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis, and bent long bones (particularly involving the femora), caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated.  >> 翻訳 (Google)

932
(63.5%)

Metaphyseal chondrodysplasia, Spahr type
----
骨幹端異形成, Spahr 型

歯の異常 短い下肢

常染色体劣性遺伝

A rare, genetic, primary bone dysplasia disease characterized by usually moderate, postnatal short stature, progressive genu vara deformity, a waddling gait, and radiological signs of metaphyseal dysplasia (i.e. irregular, sclerotic and widened metaphyses), in the absence of biochemical abnormalities suggestive of rickets disease. Intermittent knee pain, lordosis, and delayed motor development may also occasionally be associated.  >> 翻訳 (Google)

933
(63.5%)

Leri pleonosteosis

側弯 幅広い母指 眼瞼裂狭小 短指症候群

常染色体優性遺伝

Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.  >> 翻訳 (Google)

934
(63.5%)

Tetra-amelia

小顎 涙管低形成 高狭口蓋

A rare, non-syndromic, limb reduction defect characterized by the partial or complete absence of all four limbs. Sometimes, other malformations may be associated.  >> 翻訳 (Google)

934
(63.5%)

Ring chromosome 9 syndrome

小顎 幅広い眉毛 舌挺出

Ring chromosome 9 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies.  >> 翻訳 (Google)

934
(63.5%)

Axial mesodermal dysplasia spectrum

小顎 歯肉過成長 眼球上デルモイド

Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula.  >> 翻訳 (Google)

934
(63.5%)

Neuroblastoma
----
神経芽細胞腫

小歯 小顎 連続眉毛

Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.  >> 翻訳 (Google)

938
(63.5%)

Agnathia-holoprosencephaly-situs inversus syndrome

下顎無形成 狭い口 眉毛の無形成/低形成

常染色体優性遺伝 常染色体劣性遺伝

An extremely rare and fatal association syndrome, characterized by absence of the mandible, cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia, malformed and low-set ears fused in midline (otocephaly), agenesis of the olfactory bulbs, microstomia, hypoglossia/aglossia) and situs inversus partialis or totalis.  >> 翻訳 (Google)

939
(63.5%)

Non-distal monosomy 10q

両頭頂径狭小 内眼角贅皮 指の重なり 第5指弯指

Non-distal monosomy 10q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 10, with a highly variable phenotype principally characterized by developmental delays (usually of language and speech), variable cognitive impairment and neurobehavioral abnormalities such as autism spectrum disorders and attention deficit disorder. Macrocephaly and mild dysmorphic features may by associated. Overlap with other syndromes, such as Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and juvenile polyposis syndrome has been reported.  >> 翻訳 (Google)

940
(63.5%)

5q14.3 microdeletion syndrome

合趾症 眼瞼裂斜上 短い人中 開口

The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy.  >> 翻訳 (Google)

941
(63.5%)

Syndactyly type 3

短い趾

常染色体優性遺伝

Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.  >> 翻訳 (Google)

942
(63.5%)

Cockayne syndrome
----
コケイン症候群

口腔裂 口蓋の異常 大きな手 小頭

Cockayne syndrome (CS) is a multisystem condition characterized by short stature, a characteristic facial appearance, premature aging, photosensitivity, progressive neurological dysfunction, and intellectual deficit.  >> 翻訳 (Google)

943
(63.5%)

Desmoid tumor
----
類腱腫

尺骨湾曲 開口障害 (牙関緊急)

常染色体優性遺伝

A desmoid tumor (DT) is a benign, locally invasive soft tissue tumor associated with a high recurrence rate but with no metastatic potential.  >> 翻訳 (Google)

944
(63.4%)

20q11.2 microdeletion syndrome

内転母指 前頭突出, 額突出 短い人中 短指症候群

A rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.  >> 翻訳 (Google)

945
(63.4%)

Hypogonadism-mitral valve prolapse-intellectual disability syndrome

中手骨の異常 尺骨の異常 眼瞼裂斜下 短い頸部 高口蓋

This syndrome is characterized by the association of hypogonadism due to primary gonadal failure, mitral valve prolapse, mild intellectual deficit and short stature.  >> 翻訳 (Google)

946
(63.4%)

Achalasia-microcephaly syndrome
----
アカラジア-小頭症候群

内眼角贅皮 小顎

常染色体劣性遺伝

An extremely rare genetic syndrome characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case.  >> 翻訳 (Google)

946
(63.4%)

Craniodigital-intellectual disability syndrome

小顎 狭い鼻梁 長い睫毛

Craniodigital syndrome - intellectual deficit is characterised by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.  >> 翻訳 (Google)

946
(63.4%)

Cystic fibrosis-gastritis-megaloblastic anemia syndrome

内眼角外方偏位 小顎 幅広い鼻梁

常染色体劣性遺伝

Cystic fibrosis-gastritis-megaloblastic anemia, or Lubani-Al Saleh-Teebi syndrome, is a rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991.  >> 翻訳 (Google)

946
(63.4%)

Submucosal cleft palate
----
粘膜下口蓋裂

小顎 長い眼瞼裂 顔面非対称

946
(63.4%)

Neonatal hemochromatosis

小顎 目立つ鼻 眼瞼裂狭小

常染色体劣性遺伝

Neonatal hemochromatosis (NH) is an iron storage disorder present at birth. It is a distinct entity that differs from adult hemochromatosis with respect to its molecular origin.  >> 翻訳 (Google)

946
(63.4%)

Nasolacrimal duct cyst

小顎 霰粒腫 鼻涙管閉塞

Nasolacrimal duct cyst describes a unilateral or bilateral congenital cyst of the nasolacrimal duct, which is almost always associated with dacryocystocele, presenting most commonly at birth or a few weeks of age (but rarely presenting in adulthood) as a benign, grayish blue mass in the inferomedial canthus or in the nasal cavity, that can cause epiphora, dacryocystitis (inflammation of the lacrimal sac) and nasal obstruction. It is more commonly reported in females.  >> 翻訳 (Google)

946
(63.4%)

Cat-eye syndrome
----
ネコ眼症候群

小顎 眼瞼裂斜下 耳介前皮膚肉柱

常染色体優性遺伝

Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.  >> 翻訳 (Google)

946
(63.4%)

Ocular anomalies-axonal neuropathy-developmental delay syndrome

小顎 眼瞼裂斜上 長い顔

954
(63.4%)

Isolated Pierre Robin syndrome

口蓋裂 小顎 舌根沈下

常染色体劣性遺伝

Pierre-Robin syndrome (or Pierre-Robin sequence) is characterised by triad of orofacial morphological anomalies consisting of retrognathism, glossoptosis and a posterior median velopalatal cleft.  >> 翻訳 (Google)

954
(63.4%)

Isotretinoin syndrome

口蓋裂 小顎

Isotretinoin embryopathy is an association of malformations caused by the teratogenic effect of isotretinoin, an oral synthetic vitamin A derivative, which is used to treat severe recalcitrant cystic acne. Exposure to isotretinoin during the first trimester of pregnancy has been associated with an increased risk of spontaneous abortions and severe birth defects including serious craniofacial (microcephaly, asymmetric crying facies, microphthalmia, developmental abnormalities of the external ear, ocular hypertelorism), cardio vascular (conotruncal heart defects, aortic arch abnormalities), and central nervous system (hydrocephalus, microcephaly, lissencephaly, Dandy-Walker malformation, cognitive deficit) anomalies and thymic aplasia. Isoretinoin is contraindicated during pregnancy.  >> 翻訳 (Google)

954
(63.4%)

Amish lethal microcephaly
----
小頭症, Amish 型

小顎 軟口蓋裂

常染色体劣性遺伝

A very rare syndrome characterized by extreme microcephaly and early death, within the first year.  >> 翻訳 (Google)

954
(63.4%)

Auriculocondylar syndrome

口蓋裂 小顎 狭い口

A rare disorder that presents with bilateral external ear malformations ('question mark' ears), mandibular condyle hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry. Additional manifestations include hypotonia, ptosis, cleft palate, puffy cheeks, developmental delay, impaired hearing and respiratory distress.  >> 翻訳 (Google)

958
(63.4%)

Larsen-like osseous dysplasia-short stature syndrome

中手骨の異常 側弯 狭い口 短指症候群 薄い唇紅部縁

孤発性

Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.  >> 翻訳 (Google)

959
(63.3%)

Pili torti

側弯 合指趾症 片側性口唇裂 眉毛の異常

常染色体優性遺伝 常染色体劣性遺伝 孤発性

Pili torti is a hair shaft abnormality characterized by flat hair that is twisted at irregular intervals. Hair is normal at birth but progressively stops growing long and becomes fragile. Pili torti can be isolated or occur in association with syndromes such as Menkes disease or Bazex syndrome (see these terms).  >> 翻訳 (Google)

960
(63.3%)

Microphthalmia, Lenz type

口腔裂 小頭 眼瞼癒着 第5指弯指

Lenz microphthalmia syndrome is a very rare X-linked inherited form of syndromic microphthalmia (see this term) characterized by unilateral or bilateral microphthalmia (and/or clinical anophthalmia) with or without coloboma in addition to a range of extraocular manifestations such as microcephaly, malformed ears, dental abnormalities (i.e. irregular shape of incisors), skeletal anomalies (duplicated thumbs, syndactyly, clinodactyly, camptodactyly (see these terms)), urogenital anomalies (hypospadias, cryptorchidism, renal dysgenesis, hydroureter) and mild to severe intellectual disability. It is allelic to two disorders: oculofaciocardiodental syndrome and premature aging appearance-developmental delay-cardiac arrhythmia syndrome (see these terms).  >> 翻訳 (Google)

961
(63.3%)

Ring chromosome 15 syndrome

三角形の顔 小さい手

Ring chromosome 15 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, characterized by pre- and/or postnatal growth retardation, variable intellectual disability, short stature, dysmorphic features (microcephaly, triangular facies, frontal bossing, hypertelorism, ear anomaly, broad nasal bridge, highly arched palate, micrognathism), hand and feet anomalies (e.g. brachydactyly, clinodactyly, syndactyly), and multiple hyperpigmented and/or hypopigmented spots. Severe phenotypes present with cardiac abnormalities and/or renal malformations. Other reported features include hypotonia, speech delay, talipes equinovarus, and genital anomalies (cryptorchidism and hypospadias).  >> 翻訳 (Google)

961
(63.3%)

X-linked intellectual disability, Cilliers type

小さい手 目立つ眼窩上縁

X-linked intellectual deficit, Cilliers type is characterized by mild intellectual deficit associated with short stature, hypergonadotropic hypogonadism, microcephaly and mild facial dysmorphism (deep-set eyes, prominent supraorbital ridges, a high nasal bridge and large ears).  >> 翻訳 (Google)

963
(63.3%)

Paternal uniparental disomy of chromosome 6

小顎 巨舌 浅い眼窩

Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.  >> 翻訳 (Google)

964
(63.2%)

Lelis syndrome
----
Lelis 症候群

下顎突出 掌蹠過角化症 溝舌 眼瞼裂斜上

Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.  >> 翻訳 (Google)

964
(63.2%)

Graft versus host disease
----
移植片対宿主拒絶反応

Cicatricial ectropion Dupuytren 拘縮 口腔潰瘍 肘運動制限 開口障害 (牙関緊急)

A rare disease that occurs after allogeneic hematopoietic stem cell transplant and is a reaction of donor immune cells against host tissues. Activated donor T cells damage host epithelial cells after an inflammatory cascade that begins with the preparative regimen.  >> 翻訳 (Google)

966
(63.2%)

Constriction rings syndrome

Pierre-Robin シークェンス 唇裂 小頭 橈骨偽関節 裂手

孤発性

Constriction rings syndrome is a congenital limb malformation disorder with an extremely variable clinical presentation characterized by the presence of partial to complete, congenital, fibrous, circumferential, constriction bands/rings on any part of the body, although a particular predilection for the upper or lower extremities is seen. Phenotypes range from only a mild skin indentation to complete amputation of parts of the fetus (e.g. digits, distal limb). Compression from the rings may lead to edema, skeletal anomalies (e.g. fractures, foot deformities) and, infrequently, neural compromise.  >> 翻訳 (Google)

967
(63.2%)

Satoyoshi syndrome
----
里吉症候群

上腕骨の異常 先細りの指 小頭 歯肉炎 疎な/欠損した睫毛

孤発性

Satoyoshi syndrome is a rare, multisystemic autoimmune disease mainly characterized by intermittent painful muscle spasms, alopecia (totalis or universalis in most cases) and long-lasting diarrhea that could lead to malnutrition, growth retardation, and amenorrhea. Secondary bone deformities and various endocrine anomalies may also be associated. Antinuclear antibodies are reported in many cases.  >> 翻訳 (Google)

968
(63.1%)

Stüve-Wiedemann syndrome

小肢症 屈指 歯の異常 開口障害 (牙関緊急)

常染色体劣性遺伝

Stüve-Wiedemann syndrome (SWS) is a rare autosomal recessive congenital primary skeletal dysplasia, characterized by small stature, bowing of the long bones, camptodactyly, hyperthermic episodes, respiratory distress/apneic episodes and feeding difficulties that usually lead to early mortality.  >> 翻訳 (Google)

969
(63.1%)

Trigeminal neuralgia
----
三叉神経痛

片側萎縮 舌運動障害 開口障害 (牙関緊急)

常染色体優性遺伝

969
(63.1%)

Meningioma
----
髄膜腫

減歯症 片側萎縮 開口障害 (牙関緊急) 顔面筋波動症 (ミオキミア)

A rare, mostly benign, primary tumor of the meninges (arachnoid cap cells), usually located in the supratentorial compartment, commonly appearing in the sixth and seventh decade of life, clinically silent in most cases or causing hyperostosis close to the tumor and resulting in focal bulging and localized pain in less than 10% of cases. Additional features may include headache, seizures, gradual personality changes (apathy and dementia), anosmia, impaired vision, exophthalmos, hearing loss, ataxia, dysmetria, hypotonia, nystagmus, and rarely spontaneous bleeding.  >> 翻訳 (Google)

971
(63.0%)

Mosaic trisomy 20

Dandy-Walker 奇形 短い大腿骨

Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported.  >> 翻訳 (Google)

972
(63.0%)

14q12 microdeletion syndrome

下顎突出 内眼角贅皮 小頭 平坦な人中

14q12 microdeletion syndrome is a recently described syndrome characterized by severe intellectual deficit, with a normal neonatal period, followed by a phase of regression at the age of 3-6 months.  >> 翻訳 (Google)

973
(63.0%)

Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome

分厚い下口唇唇紅部 四肢筋緊張亢進 小頭 長い睫毛

常染色体劣性遺伝

973
(63.0%)

1q41q42 microdeletion syndrome

内反尖足 分厚い唇紅部縁 前頭突出, 額突出 眼瞼裂斜上

常染色体優性遺伝 孤発性

1q41q42 microdeletion syndrome is a chromosomal anomaly characterized by a severe developmental delay and/or intellectual disability, typical facial dysmorphic features, brain anomalies, seizures, cleft palate, clubfeet, nail hypoplasia and congenital heart disease.  >> 翻訳 (Google)

975
(62.9%)

Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome

中手骨の異常 女性外性器異常 趾骨低形成/無形成

常染色体劣性遺伝

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

976
(62.9%)

Diaphanospondylodysostosis
----
透明脊椎異骨症

口蓋裂 短い肋骨

常染色体劣性遺伝

Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.  >> 翻訳 (Google)

976
(62.9%)

Caudal regression sequence

口腔裂 肋骨欠損

Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine.  >> 翻訳 (Google)

978
(62.9%)

Distal monosomy 13q

小頭 母指無形成/低形成

Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported.  >> 翻訳 (Google)

979
(62.9%)

Microcephalic primordial dwarfism, Toriello type
----
小頭性原発性小人症, Toriello 型

口角下垂 小頭 眼瞼裂斜下 短指症候群 骨端の異常

常染色体劣性遺伝

A rare disorder characterised by growth retardation with prenatal onset, cataracts, microcephaly, intellectual deficit, immune deficiency, delayed ossification and enamel hypoplasia. It has been described in two siblings. Transmission is autosomal recessive.  >> 翻訳 (Google)

980
(62.8%)

Dermatomyositis
----
皮膚筋炎

ばち状化 口唇炎 眼瞼の異常 胸痛

A type of idiopathic inflammatory myopathy characterized by evocative skin lesions and symmetrical proximal muscle weakness.  >> 翻訳 (Google)

981
(62.8%)

Diencephalic syndrome
----
間脳症候群

下口唇唇紅部外反 大きな手

Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesia and euphoria, in the presence of hypothalamic tumors.  >> 翻訳 (Google)

982
(62.7%)

Acromesomelic dysplasia, Maroteaux type
----
四肢先端中部異形成, Maroteaux 型

前頭突出, 額突出 短指症候群 肢端四肢中部短縮

常染色体劣性遺伝

A rare autosomal recessive acromesomelic dysplasia characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type .  >> 翻訳 (Google)

983
(62.7%)

Familial infantile gigantism

下顎突出 大きな手 粗な顔貌

Familial infantile gigantism is a rare, genetic, endocrine disease characterized by early-onset (before the age of five years old) excessive acceleration of linear growth and body size (height Z-score >4.5 SD) due to pituitary mixed growth hormone- and prolactin-secreting adenomas and/or mixed-cell pituitary hyperplasia. Patients present gigantism and may associate acromegalic features (e.g. coarse facial features, frontal bossing, prognathism, increased interdental space) as well as marked enlargement of hands and feet, soft tissue swelling, appetite increase and acanthosis nigricans.  >> 翻訳 (Google)

983
(62.7%)

Pituitary gigantism
----
下垂体性巨人症

下顎突出 大きな手 粗な顔貌

A rare endocrine disease characterized by unusually tall stature (with rapid growth velocity), occurring before closure of the epiphyseal growth plates, due to excessive growth hormone (GH) caused by a GH-secreting pituitary tumor or from pituitary hyperplasia. Additional associated features may include pubertal delay, visual defects, headache, excessive appetite, hyperhidrosis and menstrual irregularity, as well as variable manifestations characteristic of acromegaly, such as prognathism, coarse facial features and large hands/feet in adolescents.  >> 翻訳 (Google)

985
(62.6%)

Mucopolysaccharidosis type 2

下顎突出 分厚い下口唇唇紅部 寛骨の異常 巨舌

X連鎖劣性遺伝

A lysosomal storage disease with multisystemic involvement leading to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive coarse facial features, short stature, cardio-respiratory involvement and skeletal abnormalities. It manifests as a continuum varying from a severe form with neurodegeneration to an attenuated form without neuronal involvement.  >> 翻訳 (Google)

986
(62.6%)

Bone dysplasia, lethal Holmgren type

小肢症 母指の異常 短い肋骨 高い額

常染色体劣性遺伝

Bone dysplasia lethal Holmgren type (BDLH) is a lethal bone dysplasia characterized at birth by low birth weight, a rhizomelic dwarfism, bent femora and short chest producing asphyxia. It was described in three siblings from healthy, non-consanguineous parents of Finnish and in four siblings from non-consanguineous parents of French origin with no family history of dwarfism. The initial cases could have been diagnosed as Desbuquois syndrome, or a recessive Larsen syndrome. There has been no further description of BDLH in the literature since 1988.  >> 翻訳 (Google)

987
(62.6%)

Blepharophimosis-intellectual disability syndrome, Ohdo type

口蓋裂 小頭 手掌皮膚紋理異常 眼瞼裂狭小

常染色体優性遺伝

Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.  >> 翻訳 (Google)

988
(62.5%)

Thoracomelic dysplasia
----
胸郭四肢異形成

丸い顔 四肢成長不全 短い肋骨

常染色体劣性遺伝

Thoracomelic dysplasia is an extremely rare primary bone dysplasia disorder characterized by a bell-shaped thorax, disproportionate short stature, pelvic hypoplasia, dislocatable radial heads and elongated distal fibulae. No acetabular spurs nor phalangeal cone-shaped epiphyses are present and osseous manifestations tend to normalize with age. There have been no further descriptions in the literature since 1988.  >> 翻訳 (Google)

988
(62.5%)

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

小肢症 歯状突起低形成 粗な顔貌

常染色体劣性遺伝

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

990
(62.5%)

Aneurysm-osteoarthritis syndrome

くも指 下顎後退 口蓋裂

常染色体優性遺伝

A rare, genetic, systemic disease characterized by the presence of arterial aneurysms, tortuosity and dissection throughout the arterial tree, associated with early-onset osteoarthritis (predominantly affecting the spine, hands and/or wrists, and knees) and mild craniofacial dysmorphism (incl. long face, high forehead, flat supraorbital ridges, hypertelorism, malar hypoplasia and, a raphe, broad or bifid uvula), as well as mild skeletal and cutaneous anomalies. Joint abnormalities, such as osteochondritis dissecans and intervertebral disc degeneration, are frequently associated. Additonal cardiovascular anomalies may include mitral valve defects, congenital heart malformations, ventricular hypertrophy and atrial fibrillation.  >> 翻訳 (Google)

991
(62.5%)

Amelogenesis imperfecta
----
遺伝性エナメル質形成不全症

歯肉線維腫症 短い大腿骨頸部

A rare genetic odontal or periodontal disorder that represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body.  >> 翻訳 (Google)

991
(62.5%)

Legg-Calvé-Perthes disease

Proximal femoral focal deficiency 歯の異常

常染色体優性遺伝 多因子性遺伝

A rare disorder characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children.  >> 翻訳 (Google)

993
(62.5%)

Coxopodopatellar syndrome

股関節異形成 膝蓋骨低形成

常染色体優性遺伝

Small patella syndrome (SPS) is a very rare benign bone dysplasia affecting skeletal structures of the lower limb and the pelvis.  >> 翻訳 (Google)

993
(62.5%)

Femoral agenesis/hypoplasia

Proximal femoral focal deficiency 関節脱臼

Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.  >> 翻訳 (Google)

993
(62.5%)

Aniridia-absent patella syndrome

膝蓋骨無形成/低形成 鼠径ヘルニア

常染色体優性遺伝

A rare syndrome described in three members of a family (a boy, his father, and his paternal grandmother) that is characterized by the association of aniridia with patella aplasia or hypoplasia. The grandmother also had bilateral cataracts and glaucoma. There have been no further descriptions in the literature since 1975.  >> 翻訳 (Google)

993
(62.5%)

Nail-patella syndrome
----
爪膝蓋骨症候群 (NPS; NPS1)

腎不全 膝蓋骨低形成

常染色体優性遺伝

Nail-patella syndrome (NPS) is a rare hereditary patellar dysostosis characterized by nail hypoplasia or aplasia, aplastic or hypoplastic patellae, elbow dysplasia, and the presence of iliac horns as well as renal and ocular anomalies.  >> 翻訳 (Google)

997
(62.5%)

Severe generalized recessive dystrophic epidermolysis bullosa

ミトン変形 狭い口 眼瞼炎

常染色体劣性遺伝

Severe generalized recessive dystrophic epidermolysis bullosa (RDEB-sev gen) is the most severe subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as the Hallopeau-Siemens type, and is characterized by generalized cutaneous and mucosal blistering and scarring associated with severe deformities and major extracutaneous involvement.  >> 翻訳 (Google)

997
(62.5%)

Deafness-enamel hypoplasia-nail defects syndrome

大きな手 歯の異常 眼瞼の異常

Deafness-enamel hypoplasia-nail defects syndrome is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects (Beau's lines and leukonychia). Less than 10 patients have been described so far. Transmission is autosomal recessive.  >> 翻訳 (Google)

999
(62.4%)

Rett syndrome
----
Rett 症候群

中手骨の異常 歯の異常 第5指弯指 開口障害 (牙関緊急)

X連鎖優性遺伝

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.  >> 翻訳 (Google)

1000
(62.4%)

Orofaciodigital syndrome type 5

小頭 正中口唇裂 軸後性多指症

常染色体劣性遺伝

Oral-facial-digital syndrome, type 5 is characterized by median cleft of the upper lip, postaxial polydactyly of hands and feet, and oral manifestations (duplicated frenulum).  >> 翻訳 (Google)