11
(85.5%)

SC phocomelia syndrome
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SC アザラシ肢症候群

上口唇裂 小顎 尺骨欠損 短い母指

常染色体劣性遺伝

12
(85.1%)

Baller-Gerold syndrome
----
Baller-Gerold 症候群

内眼角贅皮 口蓋裂 小顎 尺骨低形成 母指無形成/低形成

常染色体劣性遺伝

Baller-Gerold syndrome is characterized by the association of coronal craniosynostosis with radial ray anomalies (oligodactyly, aplasia or hypoplasia of the thumb, aplasia or hypoplasia of the radius).  >> 翻訳 (Google)

13
(84.7%)

MOMO syndrome
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MOMO 症候群

大きな手 平坦な人中 眼瞼裂 短い胸骨

常染色体優性遺伝

MOMO syndrome is a very rare genetic overgrowth/obesity syndrome 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)

14
(84.6%)

microphthalmia with cyst, bilateral facial clefts, and limb anomalies
----
嚢胞を伴う小眼球-両側性顔裂-四肢奇形

上口唇裂 幅広い指基節骨 眼瞼裂 短い足

孤発性

15
(84.2%)

ulnar hypoplasia-split foot syndrome
----
尺骨低形成-裂足

合指趾症 尺骨低形成 短い指

X連鎖劣性遺伝

Ulnar hypoplasia-split foot syndrome is characterised by the association of severe ulnar hypoplasia, absence of fingers two to five, and split-foot. It has been described in four males belonging to two generations of the same family. X-linked recessive inheritance is suggested, but autosomal dominant transmission cannot be excluded.  >> 翻訳 (Google)

15
(84.2%)

acromesomelic dysplasia, Hunter-Thompson type
----
四肢先端中部短縮性異形成, Hunter-Thompson 型

尺骨低形成 手掌横線 指の全中節骨の短縮 短い足

常染色体劣性遺伝

Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type, facial features and intelligence are normal.  >> 翻訳 (Google)

15
(84.2%)

acromesomelic dysplasia, Demirhan type
----
先端中部短縮性軟骨異形成, Demirhan 型

子宮低形成 尺骨低形成 短い指 短い趾

常染色体劣性遺伝

18
(84.0%)

Wolf-Hirschhorn syndrome
----
Wolf-Hirschhorn 症候群 (WHS)

上口唇裂 内眼角贅皮 小顎 橈尺骨癒合 短い母指

常染色体優性遺伝 孤発性

Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.  >> 翻訳 (Google)

19
(83.9%)

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
----
Helsmoortel-van der Aa 症候群

小さい手 眼瞼裂 薄い上口唇唇紅部

常染色体優性遺伝

An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of ADNP on chromosome 20q13.13.  >> 翻訳 (Google)

20
(83.9%)

congenital disorder of glycosylation type 1E
----
先天性グリコシル化異常症 Ie 型 (CDG1E)

上肢成長不全 小顎 平坦な人中 眼瞼裂斜下 短い手掌

常染色体劣性遺伝

The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.  >> 翻訳 (Google)