肢端-面骨发育不全，Catania型
Acrofacial dysostosis, Catania type
定义 英文原文（暂无中文）
A rare congenital acrofacial dysostosis characterized by mild intrauterine growth retardation, postnatal short stature, microcephaly, intellectual disability, moderate mandibulofacial dysostosis (including dental anomalies and/or malpositioning, microretrognathia, and malar hypoplasia), and mild pre- and postaxial limb hypoplasia with generalized brachydactyly, mild interdigital webbing, single transverse palmar creases and clinodactyly. Reported facial features include high forehead, widow's peak, downslanted palpebral fissures, sparse lateral eyebrows, and small or dysplastic ears. Variably associated features include frequent caries, preauricular fistulae, inguinal hernia, spina bifida occulta, and cryptorchidism and hypospadias in males.
别名
Opitz-Caltabiano综合征
基本事实
- 遗传方式
- 常染色体显性、X 连锁显性
- 发病年龄
- 产前、新生儿期
- 患病率
- <1 / 1 000 000
临床表型 35
极常见 99–80%17
- 皮纹异常 HP:0007477
- 腭形态异常 HP:0000174
- 牙列异常 HP:0000164
- 短指（趾） HP:0001156
- 龋齿 HP:0000670
- 下斜睑裂 HP:0000494
- 手指并指 HP:0006101
- 额头高 HP:0000348
- 颧骨发育不良 HP:0010669
- 轻度智力障碍 HP:0001256
- 小头畸形 HP:0000252
- 下颌小且后移 HP:0000308
- 短鼻 HP:0003196
- 短掌 HP:0004279
- 身材矮小 HP:0004322
- 小手 HP:0200055
- 人中扁平 HP:0000319
常见 79–30%8
- 毛发分布异常 HP:0010720
- 双侧单掌横折痕 HP:0007598
- 隐睾 HP:0000028
- 骨成熟延迟 HP:0002750
- 婴儿期喂养困难 HP:0008872
- 胎儿宫内发育迟缓 HP:0001511
- 后旋耳 HP:0000358
- 耳前凹陷 HP:0004467
偶见 29–5%10
- 第五指屈指畸形 HP:0004209
- 毛发粗糙 HP:0002208
- Tessier裂 HP:0002006
- 尿道下裂 HP:0000047
- 腹股沟疝 HP:0000023
- 漏斗胸 HP:0000767
- 早产 HP:0001622
- 隐性脊柱裂 HP:0003298
- 牙齿发育不全 HP:0009804
- 蹼颈 HP:0000465
外部标识与链接
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本页数据来源
- 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
- 中文病名：Orphanet 中文包，冻结于 2020-06-01
- 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）