101
(79.4%)

hydrolethalus syndrome 1
----
Hydrolethalus 症候群1

上肢成長不全 小顎 正中口唇裂

常染色体劣性遺伝

Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene.  >> 翻訳 (Google)

102
(79.4%)

oculodentodigital dysplasia
----
眼歯指趾異形成 (ODDD)

上口唇裂 内眼角贅皮 短い第5指中節骨

常染色体優性遺伝

Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.  >> 翻訳 (Google)

103
(79.3%)

otopalatodigital syndrome type 1
----
耳口蓋指症候群 I 型

前頭洞欠損 口蓋裂 幅広い母指末節骨 眼瞼裂斜下 短い指末節骨

X連鎖優性遺伝

Otopalatodigital syndrome type 1 (OPD1) is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.  >> 翻訳 (Google)

104
(79.3%)

craniofacial dysplasia - osteopenia syndrome
----
Hamamay 症候群

小顎 平坦な人中 疎な外側眉毛 短い第2指

常染色体劣性遺伝

105
(79.2%)

osteoglophonic dwarfism
----
中空骨異形成

眼瞼裂斜下 短い中足骨 短い手掌 肩甲骨低形成 長い人中

常染色体優性遺伝

Osteoglophonic dwarfism (OGD) is characterized by dwarfism, severe craniofacial abnormalities and multiple unerupted teeth.  >> 翻訳 (Google)

105
(79.2%)

Desbuquois dysplasia 2
----
Desbuquois 異形成2

内眼角贅皮 短い中手骨 短い鎖骨 短い長管骨 長い人中

常染色体劣性遺伝

Any Desbuquois dysplasia in which the cause of the disease is a mutation in the XYLT1 gene.  >> 翻訳 (Google)

105
(79.2%)

mucolipidosis type II
----
ムコリピドーシス II α/β

内眼角贅皮 手根骨低形成 短い長管骨 肩甲骨低形成 長い人中

常染色体劣性遺伝

Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.  >> 翻訳 (Google)

108
(79.1%)

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

小歯 橈側湾曲 眼瞼裂斜上 短い指中節骨 肩甲骨低形成

常染色体劣性遺伝

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

109
(79.1%)

femoral-facial syndrome
----
大腿骨-顔面症候群 (FFS)

小顎 橈尺骨癒合 眼瞼裂斜上 短い上腕骨 薄い上口唇唇紅部

孤発性

Femoral-facial syndrome is characterized by predominant femoral hypoplasia (bilateral or unilateral) and unusual facies.  >> 翻訳 (Google)

110
(79.0%)

Cenani-Lenz syndactyly syndrome
----
Cenani- Lenz 合指症 症候群

小顎 尺骨低形成 橈骨低形成 眼瞼裂斜下

常染色体劣性遺伝

Cenani-Lenz syndrome (CLS) is a congenital malformation syndrome that associates a complex syndactyly of the hands with malformations of the forearm bones and similar manifestations in the lower limbs.  >> 翻訳 (Google)

111
(79.0%)

osteopathia striata with cranial sclerosis
----
線状骨症-頭蓋骨硬化症

上口唇裂 内眼角贅皮 小顎 腓骨低形成 腓骨無形成

X連鎖優性遺伝

Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.  >> 翻訳 (Google)

112
(79.0%)

autosomal recessive omodysplasia
----
肩異形成 1

内眼角贅皮 小顎 腓骨低形成 遠位上腕骨低形成 長い人中

常染色体劣性遺伝

Autosomal recessive form of omodysplasia.  >> 翻訳 (Google)

112
(79.0%)

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

内眼角贅皮 小顎 短い上腕骨 長い人中

常染色体優性遺伝

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

114
(78.9%)

Bartsocas-Papas syndrome
----
Bartsocas-Papas 症候群

上口唇裂 小顎 母指欠損 睫毛欠損

常染色体劣性遺伝

Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome characterized by severe popliteal webbing, microcephaly, a typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal anomalies (i.e. absent hair, eyebrows, lashes, nails). It is often fatal in the neonatal period, but patients living until childhood have been reported.  >> 翻訳 (Google)

115
(78.9%)

focal dermal hypoplasia
----
部分皮膚低形成

上口唇裂 口蓋裂 短い中足骨 短い指 短い肋骨

X連鎖優性遺伝

Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.  >> 翻訳 (Google)

116
(78.8%)

3M syndrome 1
----
3M 症候群 1

分厚い眉毛 短い第5指 短い肋骨 長い人中

常染色体劣性遺伝

Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene.  >> 翻訳 (Google)

117
(78.8%)

macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
----
Smith-Kingsmore 症候群

四肢近位短縮 眼瞼裂斜下 短い指末節骨 薄い上口唇唇紅部

常染色体優性遺伝

118
(78.8%)

orofaciodigital syndrome type 6
----
口腔顔指症候群 VI (OFD6)

上口唇裂 中心性Y字型収集骨 内眼角贅皮 小顎 短指症候群

常染色体劣性遺伝

Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.  >> 翻訳 (Google)

119
(78.7%)

ulnar agenesis and endocardial fibroelastosis
----
尺骨無形成-心内膜線維弾性症

乏指症 尺骨欠損

常染色体劣性遺伝

119
(78.7%)

Gollop-Wolfgang complex
----
大腿骨, 片側性二分-単指性欠指

単指 尺骨欠損 裂手

常染色体劣性遺伝

Gollop-Wolfgang complex is a very rare malformation characterized by ectrodactyly of the hand and ipsilateral bifurcation of the femur.  >> 翻訳 (Google)

119
(78.7%)

split-hand/foot malformation with long bone deficiency 1
----
裂手/裂足奇形-長管骨欠損 1 (SHFLD1)

コップ状耳 単指 尺骨無形成/低形成

常染色体優性遺伝

119
(78.7%)

Fuhrmann syndrome
----
腓骨無形成または低形成-大腿骨湾曲-多指症/合指症/乏指症

乏指症 尺骨無形成/低形成 無月経

常染色体劣性遺伝

Fuhrmann syndrome is mainly characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly.  >> 翻訳 (Google)

123
(78.6%)

microbrachycephaly-ptosis-cleft lip syndrome
----
Richieri-Costa/Guion-Almeida 症候群

上口唇裂 下顎突出 掌蹠弛緩性皮膚 眼瞼裂

常染色体劣性遺伝

Microbrachycephaly-ptosis-cleft lip syndrome is characterised by the association of intellectual deficit, microbrachycephaly, hypotelorism, palpebral ptosis, a thin/long face, cleft lip, and anomalies of the lumbar vertebra, sacrum and pelvis. It has been described in two Brazilian sisters. Transmission appears to be autosomal recessive.  >> 翻訳 (Google)

124
(78.6%)

ulnar-mammary syndrome
----
尺骨-乳房症候群

尺骨低形成 橈骨低形成 減歯症 疎な外側眉毛 肩甲骨低形成

常染色体優性遺伝

Ulnar-mammary syndrome (UMS) is a rare developmental disorder characterized by ulnar defects, mammary and apocrine gland hypoplasia and genital anomalies. Delayed puberty dental anomalies, short stature and obesity have also been described.  >> 翻訳 (Google)

125
(78.6%)

brachytelephalangy-dysmorphism-Kallmann syndrome
----
末節骨短縮-特異顔貌-Kallmann 症候群

内眼角外方偏位 指の全末節骨の短縮 薄い上口唇唇紅部

常染色体優性遺伝

Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986.  >> 翻訳 (Google)

125
(78.6%)

Cooks syndrome
----
無爪症-爪ジストロフィー-末節骨低形成／欠損

指の全末節骨の短縮 眼瞼裂斜下 短い人中 趾の全末節骨の短縮

常染色体優性遺伝

Cooks syndrome is a malformation syndrome affecting the apical structures of digits and presenting with hypo/aplasia of nails and distal phalanges. More than half of digits are usually involved and the thumbs may appear digitalized.  >> 翻訳 (Google)

125
(78.6%)

orofaciodigital syndrome 18
----
口顔指症候群 XVIII 型

眼瞼裂斜上 短い人中 短い指中節骨

常染色体劣性遺伝

125
(78.6%)

Ritscher-Schinzel syndrome 2
----
Ritscher-Schinzel 症候群2

眼瞼裂斜上 短い人中 短い指末節骨

X連鎖劣性遺伝

Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene.  >> 翻訳 (Google)

125
(78.6%)

hyperphosphatasia with intellectual disability syndrome 2
----
高ホスファターゼ症-精神遅滞症候群2

テント状上口唇唇紅部 指の全末節骨の短縮 眼瞼裂斜上

常染色体劣性遺伝

Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene.  >> 翻訳 (Google)

125
(78.6%)

Coffin-Siris syndrome 5
----
Coffin-Siris 症候群5

短い指末節骨 薄い上口唇唇紅部 長い睫毛

常染色体優性遺伝

Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene.  >> 翻訳 (Google)

125
(78.6%)

intellectual disability, autosomal dominant 27
----
精神遅滞, 常染色体優性27

短い人中 短い指末節骨 長い睫毛

常染色体優性遺伝

125
(78.6%)

Wiedemann-Steiner syndrome
----
Wiedemann-Steiner 症候群

内眼角贅皮 短い指中節骨 短い趾 薄い上口唇唇紅部

常染色体優性遺伝

Wiedemann-Steiner syndrome is a rare genetic condition characterized by distinctive facial features, hairy elbows, short stature, and intellectual disability. This condition is caused by changes (mutations) in the KMT2A gene (also known as the MLL gene). It is inherited in an autosomal dominant manner. Most cases result from new (de novo) mutations that occur only in an egg or sperm cell, or just after conception. Treatment is symptomatic and supportive and may include special education classes and speech and occupational therapies aimed at increasing motor functioning and language.  >> 翻訳 (Google)

125
(78.6%)

Simpson-Golabi-Behmel syndrome type 2
----
Simpson-Golabi-Behmel 症候群 2 型

内眼角贅皮 短い指 薄い上口唇唇紅部

X連鎖劣性遺伝

Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported.  >> 翻訳 (Google)

125
(78.6%)

palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
----
口蓋裂-精神運動発達遅滞-特異顔貌

眼瞼裂斜下 短い母指 薄い上口唇唇紅部

常染色体優性遺伝

Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.  >> 翻訳 (Google)

125
(78.6%)

Pierpont syndrome
----
Pierpont 症候群

内眼角外方偏位 幅広い人中 短い手掌 短い指 短い足

常染色体優性遺伝

Pierpont syndrome is a rare subcutaneous tissue disorder characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, deep palmar and plantar grooves. Additionally, distinct craniofacial dysmorphic features, notably a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth and flat occiput/microcephaly/brachycephaly, are also chararteristic. Over time, fat pads may become less prominent and disappear.  >> 翻訳 (Google)

136
(78.5%)

Marshall syndrome
----
Marshall 症候群

内眼角贅皮 分厚い上口唇唇紅部 小顎 橈側湾曲

常染色体優性遺伝

Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis.  >> 翻訳 (Google)

137
(78.4%)

mandibulofacial dysostosis with alopecia
----
下顎顔面異骨症-禿頭

下口唇唇紅部外反 下眼瞼コロボーマ 小顎

常染色体優性遺伝

A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia.  >> 翻訳 (Google)

138
(78.4%)

atelosteogenesis type I
----
アテロオステオジェネシス 1 型 (AO I)

口蓋裂 小顎 尺骨無形成/低形成 短い中手骨

常染色体優性遺伝 孤発性

Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.  >> 翻訳 (Google)

139
(78.4%)

arms, malformation of
----
上肢奇形 (Stiles-Dougan)

尺骨低形成 橈尺骨癒合 橈骨低形成

常染色体優性遺伝

139
(78.4%)

mesomelic dwarfism, Reinhardt-Pfeiffer type
----
尺骨および腓骨低形成

尺骨低形成

常染色体優性遺伝

Mesomelic dwarfism, Reinhardt-Pfeiffer type is characterized by disproportionate short stature from birth with dysplasia of the ulna and fibula.  >> 翻訳 (Google)

139
(78.4%)

upper limb mesomelic dysplasia
----
尺骨低形成

橈骨低形成 遠位尺骨低形成

常染色体優性遺伝

This syndrome is an isolated upper limb mesomelic dysplasia. It has been described in four patients from two unrelated families (a man and his daughter, and a Lebanese man and his son). Patients present with ulnar hypoplasia with severe radial bowing, but normal stature. The mode of transmission is likely to be autosomal dominant with variable expressivity.  >> 翻訳 (Google)

139
(78.4%)

ulna hypoplasia-intellectual disability syndrome
----
尺骨低形成-精神遅滞

両側性尺骨低形成 内反尖足

常染色体劣性遺伝

Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.  >> 翻訳 (Google)

139
(78.4%)

hypoproteinemia, hypercatabolic
----
免疫不全43

尺骨低形成 気管支拡張

常染色体劣性遺伝

139
(78.4%)

brachydactyly type A6
----
Osebold-Remondini 症候群

尺骨低形成 橈骨低形成 短い趾 脊柱の異常

常染色体優性遺伝

Brachydactyly A6 (BDA6) is characterized by brachymesophalangy with mesomelic short limbs, and carpal and tarsal bone abnormalities. In general, the affected individuals are of slightly short stature and normal intelligence. The syndrome has been described in a kindred with seven affected members from three generations. Transmission appears to be autosomal dominant.  >> 翻訳 (Google)

145
(78.4%)

kyphomelic dysplasia
----
後 湾曲肢異形成(CMD1; CMPD1)

上口唇裂 口蓋裂 小顎 橈側湾曲 短い中手骨

常染色体劣性遺伝

Kyphomelic dysplasia is a prenatal skeletal disease that causes dwarfism characterized bythe following: a disproportionately short stature with a short narrow chest,shortening and bending (bowing)of the limbs, flared irregular metaphyses of the bones, and characteristicfacial features.Bone changes are said to improve with age.Kyphomelic dysplasia is inherited in an autosomal recessive pattern. Recent studies indicate that Kyphomelic dysplasia is no longerconsidered it's ownentity and that individual cases should be further evaluated andre-classified as another existing chondrodysplasias, such as Schwartz-Jampel syndrome.  >> 翻訳 (Google)

146
(78.4%)

Larsen syndrome
----
Larsen 症候群

上口唇裂 浅い眼窩 短い中手骨 短い中足骨 頚椎低形成

常染色体優性遺伝

Larsen syndrome (LS) is a rare skeletal dysplasia characterized by congenital dislocation of large joints, foot deformities, cervical spine dysplasia, scoliosis, spatula-shaped distal phalanges and distinctive craniofacial abnormalities, including cleft palate.  >> 翻訳 (Google)

147
(78.3%)

trichorhinophalangeal syndrome type I
----
毛髪鼻指症候群 I 型

小顎 疎な外側眉毛 短い中手骨 短い中足骨 薄い上口唇唇紅部

常染色体優性遺伝

An autosomal dominant malformation syndrome caused by mutations in TRPS1 characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.  >> 翻訳 (Google)

148
(78.3%)

short stature-brachydactyly-obesity-global developmental delay syndrome
----
低身長-短指症-知的発達障害-けいれん

下顎後退 内眼角贅皮 短い中手骨 短い中足骨 長い人中

常染色体劣性遺伝

149
(78.2%)

intellectual disability-cataracts-calcified pinnae-myopathy syndrome
----
Primrose 症候群

Increased size of the mandible 分厚い下口唇唇紅部 眼瞼裂斜下 短い指末節骨

常染色体優性遺伝 孤発性

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.  >> 翻訳 (Google)

150
(78.2%)

short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
----
低身長-顔貌異常-骨格奇形+/-心奇形

11 対肋骨 眼瞼裂斜下 短い第5中手骨 薄い上口唇唇紅部

常染色体優性遺伝

151
(78.2%)

short-rib thoracic dysplasia 19 with or without polydactyly
----
短肋骨性胸郭異形成 19 +/- 多指症

橈骨低形成 短い肋骨 長い人中

常染色体劣性遺伝

152
(78.1%)

orofaciodigital syndrome type II
----
Mohr 症候群

内眼角外方偏位 小顎 正中口唇裂 短い手掌

常染色体劣性遺伝

Oral-facial-digital (OFD) type 2 is characterized by hand and feet deformities, facial deformities, midline cleft of the upper lip and tongue hamartomas.  >> 翻訳 (Google)

153
(78.0%)

chromosome 17q12 duplication syndrome
----
17q12 重複症候群

小顎 幅広い母指 平坦な人中 眼瞼裂斜下 短指症候群

常染色体優性遺伝

17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia.  >> 翻訳 (Google)

153
(78.0%)

autosomal dominant Robinow syndrome 3
----
Robinow 症候群, 常染色体優性3

内眼角贅皮 小顎 幅広い母指 短指症候群 長い人中

常染色体優性遺伝

Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene.  >> 翻訳 (Google)

155
(77.9%)

lethal multiple pterygium syndrome
----
多発性翼状片症候群, 致死型

内眼角贅皮 口蓋裂 小顎 短い指

常染色体劣性遺伝

Multiple pterygium syndrome lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterized by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia)of the neck, elbows, back of the knees, armpits, and fingers. Fetuses with this condition are usually not born. Some of the prenatal complications include cystic hygroma, hydrops, diaphragmatic hernia, polyhydramnios, underdevelopment of the heart and lungs, microcephaly, bone fusions, joint dislocations, spinal fusion, andbone fractures. Both X-linked and autosomal recessive inheritance have been proposed. Mutations in the CHRNG, CHRNA1, and CHRND genes have been found to cause this condition.  >> 翻訳 (Google)

155
(77.9%)

pseudoaminopterin syndrome
----
アミノプテリン様症候群, アミノプテリン使用なし

Narrow palpebral fissure 口蓋裂 小顎 短い母指

常染色体劣性遺伝

Pseudoaminopterin syndrome is a developmental anomalies syndrome that resembles the aminopterin embryopathy without history of fetal exposure to aminopterin. It is characterized by skull (craniosynostosis and poorly mineralized cranial vault), dysmorphic (ocular hypertelorism, palpebral fissure anomalies, micrognathia cleft lip and/or high arched palate and small and low set/rotated ears) and limb (brachydactyly, syndactyly and clinodactyly) anomalies, associated with mild-to-moderate intellectual deficit and short stature.  >> 翻訳 (Google)

157
(77.9%)

Bohring-Opitz syndrome
----
Bohring-Opitz 症候群)

上口唇裂 小顎 橈骨頭脱臼 眼瞼裂斜上 短い趾

常染色体優性遺伝

Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.  >> 翻訳 (Google)

158
(77.6%)

autosomal dominant Robinow syndrome 2
----
Robinow 症候群, 常染色体優性2

三角形の口 小顎 幅広い母指 短い指末節骨 薄い上口唇唇紅部

常染色体優性遺伝

Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene.  >> 翻訳 (Google)

159
(77.6%)

acrofacial dysostosis, Palagonia type
----
尖端顔面異骨症, Palagonia 型

Sparse eyebrow 上口唇裂 歯状突起低形成 短い第4中手骨

常染色体優性遺伝

Acrofacial dysostosis, Palagonia type is a very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia, characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997.  >> 翻訳 (Google)

160
(77.6%)

spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
----
脊椎骨端骨幹端異形成-関節弛緩 +/- 骨折

口蓋裂 小顎 橈側湾曲 短い中手骨 長い人中

常染色体劣性遺伝

Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene.  >> 翻訳 (Google)

161
(77.6%)

acheiropody
----
無手足症

尺骨欠損 手欠損 腓骨無形成

常染色体劣性遺伝

Acheiropodia is an extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones). Rarely, an ectopic bone can be found at the distal end of the humerus. No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.  >> 翻訳 (Google)

162
(77.6%)

acromicric dysplasia
----
小肢端性異形成

短い手掌 短い足 短い長管骨 長い人中 長い睫毛

常染色体優性遺伝

Acromicric dysplasia is a rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands.  >> 翻訳 (Google)

162
(77.6%)

intellectual disability-sparse hair-brachydactyly syndrome
----
Nicolaides-Baraitser 症候群

幅広い人中 眼瞼裂斜下 短い中手骨 短い中足骨

常染色体優性遺伝

Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.  >> 翻訳 (Google)

162
(77.6%)

geleophysic dysplasia 1
----
多幸小人症1

平坦な人中 眼瞼裂斜上 短い手掌 短い足 短い長管骨

常染色体劣性遺伝

Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene.  >> 翻訳 (Google)

162
(77.6%)

spondyloepiphyseal dysplasia, Cantu type
----
脊椎骨端異形成-短指-特異的言語

分厚い上口唇唇紅部 手根骨低形成 眼瞼裂狭小 短い長管骨

常染色体優性遺伝

Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).  >> 翻訳 (Google)

162
(77.6%)

frontometaphyseal dysplasia 2
----
前頭骨幹端異形成 2

眼瞼裂斜下 短い中手骨 短い中足骨 短い人中

常染色体優性遺伝

Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene.  >> 翻訳 (Google)

167
(77.6%)

Ayme-Gripp syndrome
----
Ayme-Gripp 症候群

下顎突出 橈尺骨癒合 眼瞼裂斜下 短指症候群 薄い上口唇唇紅部

常染色体優性遺伝

168
(77.5%)

autosomal recessive congenital ichthyosis 4B
----
魚鱗癬, 先天性, 常染色体劣性4B

下口唇唇紅部外反 外反(眼瞼) 短い指

常染色体劣性遺伝

Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). 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)

168
(77.5%)

autosomal recessive congenital ichthyosis 2
----
魚鱗癬, 先天性, 常染色体劣性2

下口唇唇紅部外反 外反(眼瞼) 短い指 短い趾

常染色体劣性遺伝

An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin.  >> 翻訳 (Google)

170
(77.5%)

COG1-CDG
----
先天性グリコシル化障害 IIg 型 (CDG2G)

四肢近位短縮 小さい手 小顎 眼瞼裂斜下 薄い上口唇唇紅部

常染色体劣性遺伝

COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.  >> 翻訳 (Google)

171
(77.3%)

neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
----
神経発達障害-顔貌異常-遠位四肢奇形

内眼角贅皮 小さい手 小顎 薄い上口唇唇紅部

常染色体優性遺伝

171
(77.3%)

Cornelia de Lange syndrome 2
----
Cornelia de Lange 症候群 2

小さい手 小顎 眼瞼裂斜下 薄い上口唇唇紅部

X連鎖劣性遺伝 X連鎖優性遺伝

An X-linked inherited form of Cornelia De Lange syndrome caused by mutations in the SMC1A gene mapped to chromosome Xp11.22. Patients have a milder form of the syndrome compared to patients with the NIPBL gene mutation.  >> 翻訳 (Google)

171
(77.3%)

X-linked intellectual disability-craniofacioskeletal syndrome
----
頭蓋顔骨格症候群

小顎 眼瞼裂斜下 短い手掌 薄い上口唇唇紅部

X連鎖劣性遺伝 X連鎖優性遺伝

X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.  >> 翻訳 (Google)

171
(77.3%)

oculodentodigital dysplasia, autosomal recessive
----
眼歯指異形成, 常染色体劣性

内眼角贅皮 小さい手 小顎 長い人中

常染色体劣性遺伝

Autosomal recessive form of oculodentodigital dysplasia.  >> 翻訳 (Google)

171
(77.3%)

growth delay due to insulin-like growth factor I resistance
----
インスリン様成長因子 I, への抵抗性

小さい手 小顎 眼瞼裂斜上 薄い上口唇唇紅部

常染色体優性遺伝 常染色体劣性遺伝

Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).  >> 翻訳 (Google)

171
(77.3%)

Cornelia de Lange syndrome 5
----
Cornelia de Lange 症候群 5

内眼角外方偏位 小さい手 小顎 長い人中

X連鎖遺伝 X連鎖優性遺伝

177
(77.2%)

Marden-Walker syndrome
----
Marden-Walker 症候群

くも指 内眼角贅皮 小顎 橈尺骨癒合 長い人中

常染色体優性遺伝

Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.  >> 翻訳 (Google)

178
(77.2%)

spondyloepimetaphyseal dysplasia, Irapa type
----
脊椎骨端骨幹端異形成, Irapa 型 (SEMDIT)

はと胸 上肢成長不全 仙骨低形成 短い手掌

常染色体劣性遺伝

Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment.  >> 翻訳 (Google)

179
(77.0%)

craniofrontonasal syndrome
----
頭蓋前頭鼻症候群

上口唇裂 下肢の片側発育不全 先天性鎖骨偽関節 眼瞼裂斜下 短指症候群

X連鎖優性遺伝

Craniofrontonasal dysplasia is an X-linked malformation syndrome characterized by facial asymmetry (particularly orbital), body asymmetry, midline defects (hypertelorism, frontal bossing, broad grooved or bifid nasal tip, cleft lip and/or palate, high arched palate), skeletal anomalies (clavicle pseudoarthrosis, coronal craniosynostosis, various digital and limb anomalies including syndactyly, clinodactyly of the 5th finger, broad thumbs) and ectodermal dysplasias (dental anomalies, grooved nails, wiry hair). Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism.  >> 翻訳 (Google)

180
(77.0%)

orofaciodigital syndrome 17
----
口顔指症候群 XVII 型

下顎後退 中心性Y字型収集骨 正中口唇裂 短い第2指の中節骨

常染色体劣性遺伝

181
(77.0%)

hypertelorism, microtia, facial clefting syndrome
----
両眼開離-小耳-顔面裂-伝音性難聴

上口唇裂 小顎 狭い口 短い第5指

常染色体劣性遺伝

Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia.  >> 翻訳 (Google)

181
(77.0%)

Diamond-Blackfan anemia 6
----
Diamond-Blackfan 貧血 6 (DBA6)

上口唇裂 口蓋裂 小顎 短い母指

常染色体優性遺伝

Any Diamond-Blackfan anemia in which the cause of the disease is a mutation in the RPL5 gene.  >> 翻訳 (Google)

183
(76.9%)

FG syndrome 1
----
Opitz-Kaveggia 症候群

上口唇裂 内眼角贅皮 小顎 幅広い母指 目立つ指尖パッド

X連鎖劣性遺伝

Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene.  >> 翻訳 (Google)

184
(76.9%)

multiple epiphyseal dysplasia, Lowry type
----
骨端異形成, 多発性-Robin 表現型

口蓋裂 小顎 眼瞼裂斜上 短い中手骨 腓骨低形成

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)

185
(76.9%)

acrocapitofemoral dysplasia
----
肢端大腿骨頭異形成

尺骨低形成 比較的大頭 短い母指基節骨 短い肋骨

常染色体劣性遺伝

Acrocapitofemoral dysplasia is a recently delineated skeletal dysplasia, characterized clinically by short stature of variable degrees with short limbs, brachydactyly and narrow thorax.  >> 翻訳 (Google)

186
(76.9%)

orofaciodigital syndrome VIII
----
X連鎖性口腔-顔-指症候群 (Edwards 1988)

内眼角外方偏位 正中口唇裂 短い脛骨

X連鎖劣性遺伝

Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit.  >> 翻訳 (Google)

186
(76.9%)

orofaciodigital syndrome IX
----
口腔顔指趾症候群 IX 型

内眼角外方偏位 正中口唇裂 短い脛骨

常染色体劣性遺伝 X連鎖劣性遺伝

Oral-facial-digital syndrome, type 9 is characterized by highly arched palate with bifid tongue and bilateral supernumerary lower canines, hamartomatous tongue, multiple frenula, hypertelorism, telecanthus, strabismus, broad and/or bifid nasal tip, short stature, bifid halluces, forked metatarsal, poly- and syndactyly, mild intellectual deficit and specific retinal abnormalities (bilateral optic disc coloboma and retinal dysplasia with partial detachment).  >> 翻訳 (Google)

188
(76.8%)

Zimmermann-Laband syndrome 1
----
Zimmermann-Laband 症候群

下顎突出 分厚い下口唇唇紅部 分厚い眉毛 短い指末節骨

常染色体優性遺伝

Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 gene.  >> 翻訳 (Google)

189
(76.7%)

short-rib thoracic dysplasia 18 with polydactyly
----
短肋骨性胸郭異形成 18-多指症

内眼角贅皮 小肢症 小顎 短指症候群 薄い上口唇唇紅部

常染色体劣性遺伝

189
(76.7%)

cranioectodermal dysplasia 2
----
頭蓋外胚葉異形成2

内眼角贅皮 四肢中部短縮 小顎 幅広い人中 短指症候群

常染色体劣性遺伝

Any cranioectodermal dysplasia in which the cause of the disease is a mutation in the WDR35 gene.  >> 翻訳 (Google)

189
(76.7%)

tetrasomy 12p
----
Killian / Teschler-Nicola 症候群

内眼角贅皮 四肢中部短縮 小顎 短い趾 薄い上口唇唇紅部

体細胞モザイク

Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p.  >> 翻訳 (Google)

192
(76.7%)

microphthalmia, syndromic 2
----
小眼球, 症候群性2 (MCOPS2)

小頭 握り手 橈尺骨癒合 眼瞼裂狭小 長い人中

X連鎖優性遺伝

193
(76.7%)

Treacher Collins syndrome 3
----
Treacher Collins 症候群 3

下眼瞼コロボーマ 口蓋裂 小顎

常染色体劣性遺伝

Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene.  >> 翻訳 (Google)

193
(76.7%)

Treacher-Collins syndrome 1
----
Treacher Collins 症候群 1

上眼瞼コロボーマ 口蓋裂 小顎

常染色体優性遺伝

Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the TCOF1 gene.  >> 翻訳 (Google)

195
(76.6%)

progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
----
脊椎骨端骨幹端異形成, Faden-Alkuraya 型

テント状上口唇唇紅部 内眼角贅皮 短い中手骨

常染色体劣性遺伝

195
(76.6%)

Roifman syndrome
----
Roifman 症候群

眼瞼裂斜下 短い中手骨 短い趾 薄い上口唇唇紅部

常染色体劣性遺伝

197
(76.6%)

ALG12-CDG
----
先天性グリコシル化異常症 Ig 型 (CDG1G)

橈骨低形成 薄い上口唇唇紅部

常染色体劣性遺伝

A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33).  >> 翻訳 (Google)

198
(76.5%)

spondyloperipheral dysplasia-short ulna syndrome
----
脊椎末梢性異形成

尺骨低形成 平坦な頬 短い第3指末節骨 短い足

常染色体優性遺伝

An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is characterized by short stature, pugilistic facies, midface hypoplasia, spondyloepiphyseal dysplasia, kyphosis, short ulna, and absent styloid process. Mutation(s) in the same gene are responsible for Kniest dysplasia.  >> 翻訳 (Google)

199
(76.5%)

autosomal dominant omodysplasia
----
肩異形成2

四肢近位短縮性腕短縮 短い上腕骨 短い第1中手骨 長い人中

常染色体優性遺伝

Autosomal dominant form of omodysplasia.  >> 翻訳 (Google)

200
(76.5%)

COG7-CDG
----
先天性グリコシル化異常症 IIe 型 (CDG2E)

小顎 平坦な人中 指の重なり 眼瞼裂斜上

常染色体劣性遺伝

COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.  >> 翻訳 (Google)