IMAGE syndrome

Classification according to ICD-10
Q87.1	Congenital malformation syndromes that are predominantly associated with short stature
ICD-10 online (WHO version 2019)

The IMAGE syndrome , acronym for I ntrauterine growth retardation , M etaphysäre dysplasia , congenital A drenale hypoplasia and anomalies of Ge reproductive organs , is a very rare congenital disease with the eponymous main features.

Synonyms are: English Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome; IMAGe anomaly; IMAGe association; IMAGe syndrome

The name was suggested by the authors of the first description from 1999 by the American human geneticists Eric Vilain , Martine Le Merrer and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, so far fewer than 20 people have been reported. Inheritance occurs as an autosomal dominant or autosomal - recessive .

root cause

The disease are mutations in CDKN1C - gene in chromosome 11 locus p15.4 based on which the inhibitor -dependent cyclin kinases encoded 1C.

Clinical manifestations

Clinical criteria are:

• Intrauterine growth retardation
• Metaphyseal dysplasia
• congenital adrenal hypoplasia
• Malformations of the genitals such as cryptorchidism , hypospadias , micropenis and hypogonadotropic hypogonadism
• Facial abnormalities such as a wide bridge of the nose, low ears

literature

• F. Kato, T. Hamajima, T. Hasegawa, N. Amano, R. Horikawa, G. Nishimura, S. Nakashima, T. Fuke, S. Sano, M. Fukami, T. Ogata: IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients. In: Clinical endocrinology , Volume 80, No. 5, May 2014, pp. 706-713, doi: 10.1111 / cen.12379 , PMID 24313804 .
• N. Hamajima, Y. Johmura, S. Suzuki, M. Nakanishi, S. Saitoh: Increased protein stability of CDKN1C causes a gain-of-function phenotype in patients with IMAGe syndrome. In: PLOS ONE , Volume 8, No. 9, 2013, p. E75137, doi: 10.1371 / journal.pone.0075137 , PMID 24098681 , PMC 3787065 (free full text).
• M. Balasubramanian, A. Sprigg, DS Johnson: IMAGe syndrome: Case report with a previously unreported feature and review of published literature. In: American journal of medical genetics. Part A , Volume 152A, No. 12, December 2010, pp. 3138-3142, doi: 10.1002 / ajmg.a.33716 , PMID 21108398 (review).

Web links

• Genetics Home Reference
• Right diagnosis

Individual evidence

1. ↑ ^{a b c} Orphanet IMAGe syndrome
2. ↑ E. Vilain, M. Le Merrer, C. Lecointre, F. Desangles, MA Kay, P. Maroteaux, ER McCabe: IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. In: The Journal of clinical endocrinology and metabolism , Volume 84, No. 12, December 1999, pp. 4335-4340, doi: 10.1210 / jcem.84.12.6186 , PMID 10599684 (review).
3. ↑ IMAGE syndrome.  In: Online Mendelian Inheritance in Man . (English)

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !