9
(87.6%)

Choanal atresia
----
後鼻孔閉鎖

下眼瞼コロボーマ 両側性口唇裂 小顎 母指欠損

Choanal atresia (CA) is a congenital anomaly of the posterior nasal airway characterized by the obstruction of one (unilateral) or both (bilateral) choanal aperture(s), with clinical manifestations ranging from acute respiratory distress to chronic nasal obstruction.  >> 翻訳 (Google)

12
(87.3%)

Orofaciodigital syndrome type 10

内眼角外方偏位 小顎 短い第4指 近位橈骨低形成 長い人中

常染色体優性遺伝

Oral-facial-digital syndrome, type 10 is characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. The syndrome has been described in one 10-month-old girl. No new cases have been described since 1993.  >> 翻訳 (Google)

13
(86.8%)

Microtia
----
小耳症

下眼瞼コロボーマ 両側性口唇裂 小さい手 小顎後退

A congenital malformation of the external ear, seen more frequently in males, that occurs sporadically or is inherited, that is characterized by unilateral (79-93% of cases, 60% of which involve the right ear) or bilateral small and abnormally shaped auricles and that is often associated with atresia or stenosis of the ear canal, attention deficit disorders and delayed language development. The variation in auricle size ranges from grade I, where the auricle is simply smaller than normal, to grade IV, also known as anotia, where there is a complete absence of the external ear and of the auditory canal.  >> 翻訳 (Google)

14
(86.8%)

Renal agenesis
----
腎低異形成/無形成1

大きな手 小顎後退 正中口唇裂 潜在眼球 短い第4中手骨

Renal agenesis (RA) is a form of renal tract malformation characterized by the complete absence of development of one or both kidneys (unilateral RA or bilateral RA respectively; see these terms), accompanied by absent ureter(s).  >> 翻訳 (Google)

15
(86.4%)

Acro-renal-mandibular syndrome

小顎 尺骨低形成 橈骨低形成 眼瞼裂斜下 短い人中

常染色体劣性遺伝

A very rare multiple congenital anomalies syndrome characterized by limb deficiencies and renal anomalies that include split hand-split foot malformation, renal agenesis, polycystic kidneys, uterine anomalies and severe mandibular hypoplasia. An autosomal recessive mode of inheritance has been suggested.  >> 翻訳 (Google)

16
(86.1%)

Oculocerebrocutaneous syndrome
----
眼大脳皮膚症候群

口腔裂 眼瞼裂 短い指末節骨 肋骨欠損

孤発性

Oculocerebrocutaneous syndrome (OCCS) is a rare congenital disorder associated with an intellectual disability and is typically characterized by the triad of eye, central nervous system and skin malformations.  >> 翻訳 (Google)

17
(85.1%)

Fanconi anemia
----
Fanconi 貧血, 相補性A群(FANCA)

内眼角贅皮 口蓋裂 小顎 尺骨低形成 指の無形成/低形成

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.  >> 翻訳 (Google)

18
(85.0%)

MOMO syndrome
----
MOMO 症候群

分厚い上口唇唇紅部 大きな手 大腿骨弯曲 眼瞼裂 短い胸骨

常染色体優性遺伝 常染色体劣性遺伝

MOMO syndrome is a very rare genetic overgrowth/obesity syndrome (see this term) characterized by macrocephaly, obesity, mental (intellectual) disability and ocular abnormalities. Other frequent clinical signs include macrosomia, downslanting palpebral fissures, hypertelorism, broad nasal root, high and broad forehead and delay in bone maturation, in association with normal thyroid function and karyotype.  >> 翻訳 (Google)

19
(84.9%)

Kabuki syndrome
----
歌舞伎症候群 1

下口唇小孔 小顎 無眼瞼 短い指中節骨

Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.  >> 翻訳 (Google)

20
(84.4%)

Jacobsen syndrome
----
Jacobsen 症候群

小顎 平坦な人中 眼瞼裂 短い趾

孤発性

A multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.  >> 翻訳 (Google)