1
(95.9%)

Postaxial acrofacial dysostosis
----
軸後性肢端顔異骨症

小顎 尺骨低形成 橈骨低形成 眼瞼裂 非正中口唇裂

常染色体劣性遺伝

Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis (see this term) characterised by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital ray and ulnar hypoplasia.  >> 翻訳 (Google)

2
(94.2%)

Nager syndrome
----
肢端顔異骨症1, Nager 型 (AFD1)

小顎後退 橈骨低形成 母指無形成/低形成 眼瞼裂 非正中口唇裂

常染色体優性遺伝

A congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.  >> 翻訳 (Google)

3
(90.5%)

Alagille syndrome
----
Alagille 症候群 1 (AGS)

小顎 尺骨低形成 眼瞼裂斜下 短い人中 短い指末節骨

A rare syndrome variably characterized by chronic cholestasis due to paucity of intrahepatic bile ducts, peripheral pulmonary artery stenosis, vertebrae segmentation anomalies, characteristic facies, posterior embryotoxon/anterior segment abnormalities, pigmentary retinopathy, and dysplastic kidneys.  >> 翻訳 (Google)

4
(89.8%)

Syndactyly-telecanthus-anogenital and renal malformations syndrome

橈骨低形成 眼瞼裂 薄い上口唇唇紅部

X連鎖優性遺伝

This syndrome is characterised by the association of toe syndactyly, facial dysmorphism including telecanthus (abnormal distance between the eyes) and a broad nasal tip, urogenital malformations and anal atresia.  >> 翻訳 (Google)

5
(89.5%)

Acrofrontofacionasal dysostosis

小肢症 幅広い母指 眼瞼裂 短い指末節骨 非正中口唇裂

常染色体劣性遺伝

A rare congenital malformation syndrome characterized by the association of facial and skeletal anomalies with severe intellectual deficit and occasional genitourinary anomalies.  >> 翻訳 (Google)

6
(88.3%)

Cenani-Lenz syndrome

乏趾症 尺骨低形成 眼瞼裂斜下 短い人中 短い母指

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)

7
(87.9%)

Distal trisomy 5q

小顎 尺骨低形成 母指欠損 眼瞼裂斜下 長い人中

Distal trisomy 5q is a rare chromosomal anomaly syndrome, resulting from a partial duplication of the long arm of chromosome 5, characterized by short stature, moderate intellectual disability, and craniofacial dysmorphism (microcephaly, flat facies, large, low-set dysplastic ears, down-slanted, almond-shaped palpebral fissures, hypertelorism, epicanthal folds, small nose, long philtrum, small mouth with thin upper lip, and micrognathia). Patients also frequently present speech and cognitive delay, cardiac (ventriculomegaly, ventricular septum defect) and skeletal abnormalities (craniosynostosis, radial agenesis, ulnar hypoplasia, brachydactyly) and genital malformations (hypospadias, cryptorchidism).  >> 翻訳 (Google)

8
(87.8%)

Cleft lip/palate

小顎 指の重なり 潜在眼球 片側性口唇裂 短い長管骨

Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.  >> 翻訳 (Google)

9
(87.6%)

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

小顎 正中口唇裂 母指欠損 眼瞼裂

常染色体劣性遺伝

Bartsocas-Papas syndrome is a rare, inherited, popliteal pterygium syndrome (see this term) 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)

9
(87.6%)

Goldenhar syndrome
----
片側顔面矮小症

上眼瞼コロボーマ 小顎 母指無形成/低形成 非正中口唇裂

常染色体優性遺伝

Goldenhar syndrome (GS), also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare developmental syndrome characterized by a classic triad of mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformations, and vertebral anomalies.  >> 翻訳 (Google)