以无脑回畸形为主要特征的综合征
Syndromes with lissencephaly as a major feature
- 层级
- 4 级
定义
“无脑回畸形”一词涵盖一组罕见畸形，其共同特征是脑卷积（以简化或无折叠为特征）外观异常，与胚胎发育过程中神经元迁移缺陷导致皮质层组织异常有关。无脑回儿童有进食和吞咽问题、肌张力异常（早期肌张力低下，随后出现肢体肌张力增高）、癫痫发作（特别是婴儿痉挛）和严重精神运动迟缓。可以区分为两大类：经典无脑回畸形（及其变体）和鹅卵石样脑光滑脑。
The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis. Children with lissencephaly have feeding and swallowing problems, muscle tone anomalies (early hypotonia and subsequently limb hypertonia), seizures (in particular, infantile spasms) and severe psychomotor retardation. Two large groups can be distinguished: classical lissencephaly (and its variants) and cobblestone lissencephaly.
包含词 该编码包含的临床情况，通常不作为独立编码
- 无脑回
- 巨脑回
英文词条（2）
- Agyria
- Pachygyria
索引词 可用于检索该条目的同义词与别名
- 以无脑回畸形为主要特征的综合征
- 光滑脑
- 无脑回 [possible translation]
- 脑回肥厚 [possible translation]
- 无脑回
- 巨脑回
- 经典无脑回畸形
- 无脑回畸形Ⅰ型
- 经典光滑脑
- 经典平滑脑
- doublecortin基因突变引起的无脑回畸形Ⅰ型
- 带状脑灰质异位症
- 带状型灰质异位症
- Miller-Dieker综合征
- 17p13.3缺失
- 17p13.3缺失引起的无脑回畸形
- 17p13.3微缺失综合征
- 17p端粒缺失
- 17p13.3单体
- LIS1基因突变引起的无脑回畸形Ⅰ型
- 孤立性无脑回畸形Ⅰ型，不伴已知的基因缺陷
- 无脑回畸形Ⅱ型
- 无脑回畸形Ⅲ型
- Neu-Laxova综合征
- 无脑回畸形Ⅲ型-家族性胎儿运动机能丧失序列
- 无脑回畸形Ⅲ型-家族性胎儿运动不能序列
- 无脑回畸形Ⅲ型-掌骨发育不良
- 无脑回畸形伴小脑发育不良
- 无脑回畸形伴小脑发育不良A型
- 无脑回畸形伴小脑发育不良B型
- 无脑回畸形伴小脑发育不良C型
- 无脑回畸形伴小脑发育不良D型
- 无脑回畸形伴小脑发育不良E型
- 无脑回畸形伴小脑发育不良F型
- 微小无脑回畸形
- 微小无脑回畸形A型
- 无脑回畸形综合征，Norman-Roberts型
- 微小无脑回畸形B型
- TUBA1A 基因突变引起的无脑回畸形
- X连锁无脑回畸形-胼胝体发育不全-生殖器发育异常
- X连锁无脑回畸形-胼胝体发育不良-生殖器发育畸形
- 颅端脑发育不良
- Micro综合征
- WARBM1[Warburg Micro综合征]
- Warburg Micro综合征
- 有氧糖酵解微综合征
- 虹膜缺损伴上睑下垂-智力缺陷
英文词条（38）
- Syndromes with lissencephaly as a major feature
- Agyria
- Pachygyria
- Classic lissencephaly
- Lissencephaly type 1
- Lissencephaly type 1 due to doublecortin gene mutation
- Subcortical band heterotopia
- Miller-Dieker syndrome
- 17p13.3 deletion
- 17p13.3 microdeletion syndrome
- Lissencephaly due to 17p13.3 deletion
- Monosomy 17p13.3
- Telomeric deletion 17p
- Lissencephaly type 1 due to LIS1 gene mutation
- Isolated lissencephaly type 1 without known genetic defects
- Lissencephaly type 2
- Lissencephaly type 3
- Neu-Laxova syndrome
- Lissencephaly type 3 - familial fetal akinesia sequence
- Lissencephaly type 3 - metacarpal bone dysplasia
- Lissencephaly with cerebellar hypoplasia
- Lissencephaly with cerebellar hypoplasia type A
- Lissencephaly with cerebellar hypoplasia type B
- Lissencephaly with cerebellar hypoplasia type C
- Lissencephaly with cerebellar hypoplasia type D
- Lissencephaly with cerebellar hypoplasia type E
- Lissencephaly with cerebellar hypoplasia type F
- Microlissencephaly
- Microlissencephaly type A
- Lissencephaly syndrome, Norman-Roberts type
- Microlissencephaly type B
- Lissencephaly due to TUBA1A gene mutation
- X-linked lissencephaly - agenesis of corpus callosum - genital anomalies
- Craniotelencephalic dysplasia
- Micro syndrome
- WARBM1 - [Warburg Micro syndrome]
- Warburg Micro syndrome
- Iris coloboma with ptosis - intellectual deficit
后组配轴 Postcoordination
该条目未定义后组配轴，直接使用上面的编码即可。后组配是在主干编码之后追加侧别、具体解剖部位、严重程度、病因等细节的可选组合方式，不是必填项。