小头畸形- 肾小球性肾炎-马方综合征样体型综合征

定义 英文原文（暂无中文）

A rare multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly present at birth with no other cerebral anomalies, moderate intellectual disability, marfanoid habitus (including tall stature, highly arched palate, prognathism, arachnodactyly, and joint laxity) and focal segmental glomerulonephritis leading to renal failure. Dorsal kyphosis can also be present. There have been no further reports since 1992.

基本事实

遗传方式

常染色体隐性

发病年龄

新生儿期

患病率

<1 / 1 000 000

临床表型 11

外部标识与链接