后端多指趾畸形A型

Postaxial polydactyly type A

ORPHA:93334疾病

定义英文原文（暂无中文）

A rare congenital limb malformation characterized by duplication of the fifth digit in a hand or foot, with an extra, well-formed, functional digit at the metacarpophalangeal/metatarsophalangeal or carpometacarpal/tarsometatarsal joint. The malformation can be an isolated finding or be associated with a large number of other anomalies.

基本事实

遗传方式: 常染色体隐性
发病年龄: 产前
患病率: 1-5 / 10 000（Mexico）

相关基因 6

基因	名称	关联类型
GLI3	GLI family zinc finger 3	Disease-causing germline mutation(s) in
ZNF141	zinc finger protein 141	Disease-causing germline mutation(s) in
IQCE	IQ motif containing E	Disease-causing germline mutation(s) in
GLI1	GLI family zinc finger 1	Disease-causing germline mutation(s) in
CIBAR1	CBY1 interacting BAR domain containing 1	Disease-causing germline mutation(s) in
KIAA0825	KIAA0825	Disease-causing germline mutation(s) in

外部标识与链接

Orphanet OMIM:174200 OMIM:263450 OMIM:602085 MONDO:0019673ICD-10 Q69.0ICD-11 LB78.2ClinicalTrials.gov 检索

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