Ascher syndrome

A very rare syndrome characterized by a combination of blepharochalasis, double lip, and non-toxic thyroid enlargement (seen in 10-50% of cases), although the occurrence of all three signs at presentation is uncommon. Hypertrophy of the mucosal zone of the lip with persistence of the horizontal sulcus between cutaneous and mucosal zones gives an appearance of double lip, with the upper lip being frequently involved. Blepharochalasis, or episodic edema of eyelid, appears around puberty, is present in 80% of cases, is usually bilateral, and can rarely lead to vision impairment and other ocular complications. Most cases are sporadic, but familial cases (with a possible autosomal dominant inheritance) have also been reported.



患者の 徴候・症状 を入力


症例報告を絞り込む



合計: 7 （症例報告）

   


（表示件数）
対応する徴候・症状  遺伝子  変異  キーワード（MeSH）
順位
（類似度）		 PMID
(PMCID)
1
(56.5%)		 14699621
 A newly recognized syndrome with double upper and lower lip, hypertelorism, eyelid ptosis, blepharophimosis, and third finger clinodactyly.
Parmar RC, Muranjan MN.
Am J Med Genet A. 2004;124A(2):200-1.
幅広い鼻尖 眼瞼裂狭小 Finger clinodactyly
ヒト 成人 手指 男 症候群 眼瞼下垂 瞼裂縮小
2
(39.8%)		 567995
 [Blepharoachalasis (Fuchs) and the Laffer-Ascher syndrome].
Muhlendyck H, Hundeiker M.
Hautarzt. 1978;29(9):474-7.
眼瞼裂狭小 ヘルニア
ヒト 包茎 女 成人 甲状腺腫 男 症候群 皮膚弛緩症 眼瞼疾患 鑑別診断
3
(30.8%)		 26000088
 Ascher syndrome: report of a case with early manifestations.
Molina S, Medard P, Galdeano M.
Craniomaxillofac Trauma Reconstr. 2015;8(2):150-2.
浮腫 眼瞼皮膚弛緩症
3
(30.8%)		 23172481
 Management of an unusual presentation of Ascher syndrome.
de Figueredo AA, de Pochat VD, Barreto TF, Mendes RS, Alonso N, Meneses JV.
J Craniofac Surg. 2012;23(6):e570-1.
甲状腺腫 眼瞼皮膚弛緩症
ヒト 男 若年成人 鑑別診断 頭蓋顔面奇形
3
(30.8%)		 21713204
(3111109)
 Ascher syndrome: Review of literature and case report.
Ramesh BA.
Indian J Plast Surg. 2011;44(1):147-9.
眼瞼皮膚弛緩症
3
(30.8%)		 19694346
 Surgical correction and MR imaging of double lip in Ascher syndrome: record of a case and a review of the literature.
Atzeni M, Ceratola E, Zaccheddu E, Manca A, Saba L, Ribuffo D.
Eur Rev Med Pharmacol Sci. 2009;13(4):309-11.
眼瞼皮膚弛緩症
ヒト 再建外科手術 成人 男 症候群 眼瞼疾患 磁気共鳴画像法 経過観察 鑑別診断
7
(4.0%)		 3989825
 An autosomal dominant syndrome with 'acromegaloid' features and thickened oral mucosa.
Hughes HE, McAlpine PJ, Cox DW, Philipps S.
J Med Genet. 1985;22(2):119-25.
Neuroma
ヒト ロッドスコア 中年 優性遺伝子 先端巨大症 女 子供 子供（未就学） 成人 男 症候群 表情 表現型
        

徴候・症状リスト（Orphanetデータベースから取得）

    合計: 12

HPO ID 徴候・症状 頻度
HP:0000177 上口唇の異常 Very frequent (99-80%)
HP:0000492 眼瞼の異常 Very frequent (99-80%)
HP:0000581 眼瞼裂狭小 Very frequent (99-80%)
HP:0012724 上眼瞼浮腫 Very frequent (99-80%)
HP:0000505 視力障害 Frequent (79-30%)
HP:0000508 眼瞼下垂 Frequent (79-30%)
HP:0000821 甲状腺機能低下症 Frequent (79-30%)
HP:0000853 甲状腺腫 Frequent (79-30%)
HP:0000218 高口蓋 Occasional (29-5%)
HP:0000316 両眼隔離 Occasional (29-5%)
HP:0000445 幅広い鼻 Occasional (29-5%)
HP:0004097 指偏位 Occasional (29-5%)


徴候・症状リスト（症例報告から取得）

    合計: 3

HPO ID 徴候・症状 症例報告数
HP:0010749 眼瞼皮膚弛緩症 2
HP:0000853 甲状腺腫 1
HP:0030430 Neuroma 1


疾患原因遺伝子リスト（Orphanetデータベースから取得）

    合計: 0

Gene Symbol 遺伝子名 Entrez Gene ID