1
(100.0%)

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

上口唇裂 小顎 尺骨低形成 眼瞼裂 短い母指

常染色体劣性遺伝

Postaxial acrofacial dysostosis (POADS) is a type of acrofacial dysostosis 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 acrofacial dysostosis
----
肢端顔異骨症1, Nager 型 (AFD1)

上口唇裂 下眼瞼コロボーマ 小顎 橈骨低形成 母指無形成/低形成

常染色体優性遺伝

Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.  >> 翻訳 (Google)

3
(91.3%)

CHARGE syndrome
----
CHARGE 症候群

上口唇裂 小顎 尺骨低形成 眼瞼裂斜下 短い母指

常染色体優性遺伝 孤発性

CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).  >> 翻訳 (Google)

4
(88.1%)

Diamond-Blackfan anemia 1
----
Diamond-Blackfan 貧血 1

上口唇裂 小顎 橈骨低形成 眼瞼裂斜下 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 RPS19 gene.  >> 翻訳 (Google)

5
(87.9%)

brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
----
短指趾骨粗鬆症-多指-脛骨欠損/低形成

U字型上口唇唇紅部 内眼角贅皮 単指 小顎 尺骨低形成

常染色体優性遺伝

6
(87.6%)

Roberts-SC phocomelia syndrome
----
Roberts 症候群

上口唇裂 乏指症 小顎 眼瞼裂

常染色体劣性遺伝

A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities.  >> 翻訳 (Google)

7
(87.1%)

Fraser syndrome 1
----
Fraser 症候群1

上口唇裂 上眼瞼コロボーマ 母指無形成/低形成 胸骨無形成/低形成

常染色体劣性遺伝

8
(86.9%)

spondyloepiphyseal dysplasia with congenital joint dislocations
----
脊椎骨端異形成-先天性関節脱臼

尺骨低形成 疎な眉毛 短い指末節骨 長い人中

常染色体劣性遺伝

CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.  >> 翻訳 (Google)

9
(86.4%)

short ulna-dysmorphism-hypotonia-intellectual disability syndrome
----
精神遅滞, 常染色体劣性35

小顎 尺骨低形成 眼瞼裂斜下 薄い上口唇唇紅部

常染色体劣性遺伝

10
(85.5%)

Cornelia de Lange syndrome 1
----
Cornelia de Lange 症候群1 (CDL1)

上口唇裂 乏指症 小顎 橈骨低形成 長い睫毛

常染色体優性遺伝 孤発性

Any Cornelia de Lange syndrome in which the cause of the disease is a mutation in the NIPBL gene.  >> 翻訳 (Google)