IMAGe syndrome
Dernière mise à jour 5 mars 2025
Respecte les directives éditoriales
- TéléchargerTélécharger
- Partager
- Language
- Discussion
- Version audio
- Ajouter aux sources préférées sur Google
The combination of intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies is commonly known by the acronym IMAGe. This rare syndrome has signs and symptoms that affect many parts of the body.
Description
The combination of intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies is commonly known by the acronym IMAGe. This rare syndrome has signs and symptoms that affect many parts of the body.
Most affected individuals grow slowly before birth (intrauterine growth restriction) and are small in infancy. They have skeletal abnormalities that often become apparent in early childhood, although these abnormalities are usually mild and can be difficult to recognise on x-rays. The most common bone changes are metaphyseal dysplasia and epiphyseal dysplasia; these are malformations of the ends of long bones in the arms and legs. Some affected individuals also have an abnormal side-to-side curvature of the spine (scoliosis) or thinning of the bones (osteoporosis).
Adrenal hypoplasia congenita is the most severe feature of IMAGe syndrome. The adrenal glands are a pair of small glands on top of each kidney. They produce a variety of hormones that regulate many essential functions in the body. Underdevelopment (hypoplasia) of these glands prevents them from producing enough hormones, a condition known as adrenal insufficiency. The signs of adrenal insufficiency begin shortly after birth and include vomiting, difficulty with feeding, dehydration, extremely low blood glucose (hypoglycemia), and shock. If untreated, these complications can be life-threatening.
The genital abnormalities associated with IMAGe syndrome occur only in affected males. They include an unusually small penis (micropenis), undescended testes (cryptorchidism), and the opening of the urethra on the underside of the penis (hypospadias).
Several additional signs and symptoms have been reported in people with IMAGe syndrome. Some affected individuals have distinctive facial features, such as a prominent forehead, low-set ears, and a short nose with a flat nasal bridge. Less commonly, people with this condition have premature fusion of certain bones of the skull (craniosynostosis), a split in the soft flap of tissue that hangs from the back of the mouth (cleft or bifid uvula), a high-arched roof of the mouth (palate), and a small chin (micrognathia). Other possible features of IMAGe syndrome include high levels of calcium in the blood (hypercalcemia) or urine (hypercalcuria) and a shortage of growth hormone in childhood that results in short stature.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
IMAGe anomaly
IMAGe association
IMAGe syndrome
Intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
Related patient information and medicines
Patient information leaflet
Syndrome de Charles Bonnet
Syndrome de Charles Bonnet is a common condition experienced by people who are losing, or have lost, their sight. It involves seeing things which are not really there (having visual hallucinations). People who... Charles Bonnet syndrome visual hallucinations The visual hallucinations of CBS can be black and white, or in colour. They can involve.
Patient information leaflet
Cri du chat syndrome
Cri du chat syndrome is a chromosome problem caused by a missing piece of chromosome 5. The syndrome is called cri du chat (French for pleurer of the cat) because affected babies often have a high-pitched cry. Further tests will be needed to assess any features associated with cri du chat syndrome (eg, a skull X-ray and a magnetic resonance imaging.
/og.png)
Patient information leaflet
Syndrome douloureux régional complexe (SDRC)
Syndrome douloureux régional complexe est a debilitating, painful condition in a limb, associated with nerve, skin and bone abnormalities. The condition often follows an injury to that limb. Complex Regional Pain Syndrome Treatment Care for CRPS aims to give education, pain relief, physical rehabilitation and psychological support. Graded motor imagery.
Patient information leaflet
Échographie
C'est a very commonly used test. As it uses sound waves it is thought to be very safe. Note : the information below is a general guide only. The arrangements, and the way tests are performed, may vary between diffe... What is an ultrasound scan. An échographie is a safe and painless test that creates images of organs, glands, abnormal lumps.
Patient information leaflet
IRMCP
Une IRMCP is a scan cela uses magnetic resonance imaging to produce pictures of your liver, bile ducts, gallbladder and pancreas.
Patient information leaflet
IRM
Une IRM est a safe and painless test that can provide detailed pictures of organs and other structures inside your body. Note : the information below is a general guide only. The arrangements (and the way tests are performed) may vary between different hospitals. Always follow the instructions given by your doctor or local hospital. What is an.
Lectures complémentaires et références
- IMAGe syndrome; MedlinePlus, National Library of Medicine.
- Arboleda VA, Lee H, Parnaik R, Fleming A, Banerjee A, Ferraz-de-Souza B, Delot EC, Rodriguez-Fernandez IA, Braslavsky D, Bergada I, Dell'Angelica EC, Nelson SF, Martinez-Agosto JA, Achermann JC, Vilain E. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nat Genet. 2012 May 27;44(7):788-92. doi: 10.1038/ng.2275.
- Balasubramanian M, Sprigg A, Johnson DS. IMAGe syndrome: Case report with a previously unreported feature and review of published literature. Am J Med Genet A. 2010 Dec;152A(12):3138-42. doi: 10.1002/ajmg.a.33716.
- Bergada I, Del Rey G, Lapunzina P, Bergada C, Fellous M, Copelli S. Familial occurrence of the IMAGe association: additional clinical variants and a proposed mode of inheritance. J Clin Endocrinol Metab. 2005 Jun;90(6):3186-90. doi: 10.1210/jc.2004-1589. Epub 2005 Mar 15.
- Lienhardt A, Mas JC, Kalifa G, Chaussain JL, Tauber M. IMAGe association: additional clinical features and evidence for recessive autosomal inheritance. Horm Res. 2002;57 Suppl 2:71-8. doi: 10.1159/000058105.
- Pedreira CC, Savarirayan R, Zacharin MR. IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development. J Pediatr. 2004 Feb;144(2):274-7. doi: 10.1016/j.jpeds.2003.09.052.
- Tan TY, Jameson JL, Campbell PE, Ekert PG, Zacharin M, Savarirayan R. Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review. Am J Med Genet A. 2006 Aug 15;140(16):1778-84. doi: 10.1002/ajmg.a.31365.
- Vilain E, Le Merrer M, Lecointre C, Desangles F, Kay MA, Maroteaux P, McCabe ER. IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. J Clin Endocrinol Metab. 1999 Dec;84(12):4335-40. doi: 10.1210/jcem.84.12.6186.
Participez à la conversation
Partagez vos pensées ou expériences avec les autres dans notre communautés de patients.
Demandez, partagez, connectez-vous.
Parcourez les discussions, posez des questions et partagez vos expériences sur des centaines de sujets de santé.
Inscrivez-vous à la newsletter Patient
Votre dose hebdomadaire de conseils de santé clairs et fiables - rédigés pour vous aider à vous sentir informé, confiant et maître de la situation.
En vous abonnant, vous acceptez notre Politique de confidentialité. Vous pouvez vous désabonner à tout moment. Nous ne vendons jamais vos données.