Acromelic frontonasal dysplasia

A rare frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism.



患者の 徴候・症状 を入力


症例報告を絞り込む



合計: 2 （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
(48.8%)		 1733166
 Acromelic frontonasal "dysplasia": further delineation of a subtype with brain malformation and polydactyly (Toriello syndrome).
Verloes A, Gillerot Y, Walczak E, Van Maldergem L, Koulischer L.
Am J Med Genet. 1992;42(2):180-3.
Dandy-Walker 奇形 多指趾症
つま先 ヒト 女 妊娠 新生児 男 症候群 脳 表現型 頭部
2
(31.0%)		 15264282
 Familial acromelic frontonasal dysostosis: autosomal dominant inheritance with reduced penetrance.
Hing AV, Syed N, Cunningham ML.
Am J Med Genet A. 2004;128A(4):374-82.
軸前性多指趾症
DNA変異解析 X線コンピュータ断層撮影 ハプロタイプ ヒト マイクロサテライト反復 優性遺伝子 多指症 女 子供 浸透率 男 遺伝子型 頭蓋顔面異骨症
        

徴候・症状リスト（Orphanetデータベースから取得）

    合計: 37

HPO ID 徴候・症状 頻度
HP:0000239 大きな泉門 Very frequent (99-80%)
HP:0000248 短頭 Very frequent (99-80%)
HP:0000316 両眼隔離 Very frequent (99-80%)
HP:0000455 幅広い鼻尖 Very frequent (99-80%)
HP:0000456 二分した鼻尖 Very frequent (99-80%)
HP:0000506 内眼角外方偏位 Very frequent (99-80%)
HP:0001249 知的障害 Very frequent (99-80%)
HP:0001263 全般性発達遅滞 Very frequent (99-80%)
HP:0001274 脳梁無発生 Very frequent (99-80%)
HP:0001762 内反尖足 Very frequent (99-80%)
HP:0001841 軸前性多趾症 Very frequent (99-80%)
HP:0002056 眉間の異常 Very frequent (99-80%)
HP:0002084 脳瘤 Very frequent (99-80%)
HP:0002435 髄膜瘤 Very frequent (99-80%)
HP:0006866 正中中枢神経脂肪腫 Very frequent (99-80%)
HP:0008388 趾爪の異常 Very frequent (99-80%)
HP:0009099 正中口蓋裂 Very frequent (99-80%)
HP:0009928 分厚い鼻翼 Very frequent (99-80%)
HP:0011803 二分した鼻 Very frequent (99-80%)
HP:0000161 正中口唇裂 Frequent (79-30%)
HP:0002119 脳室拡大 Frequent (79-30%)
HP:0002190 脈絡膜叢嚢胞 Frequent (79-30%)
HP:0040326 Hypoplasia of the olfactory bulb Frequent (79-30%)
HP:0000028 停留精巣 Occasional (29-5%)
HP:0000154 幅広い口 Occasional (29-5%)
HP:0000508 眼瞼下垂 Occasional (29-5%)
HP:0000545 近視 Occasional (29-5%)
HP:0001250 発作 Occasional (29-5%)
HP:0002690 大きなトルコ鞍 Occasional (29-5%)
HP:0002781 上気道閉塞 Occasional (29-5%)
HP:0003065 膝蓋骨低形成 Occasional (29-5%)
HP:0005772 脛骨無形成/低形成 Occasional (29-5%)
HP:0006951 後部小脳嚢胞 Occasional (29-5%)
HP:0010627 下垂体前葉低形成 Occasional (29-5%)
HP:0040075 下垂体機能低下症 Occasional (29-5%)
HP:0000501 緑内障 Very rare (4-1%)
HP:0025247 類皮嚢胞 Very rare (4-1%)


徴候・症状リスト（症例報告から取得）

    合計: 2

HPO ID 徴候・症状 症例報告数
HP:0010442 多指趾症 1
HP:0100258 軸前性多指趾症 1


疾患原因遺伝子リスト（Orphanetデータベースから取得）

    合計: 1

Gene Symbol 遺伝子名 Entrez Gene ID
ZSWIM6 zinc finger SWIM-type containing 6 57688