IMAGe syndrome

IMAGe syndrome is characterized by the association of <i>I</i>ntrauterine growth retardation, <i>M</i>etaphyseal dysplasia (and short limbs), <i>A</i>drenal hypoplasia congenita, and <i>Ge</i>nital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.



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Narrow down the case reports



Total: 11 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(58.0%)		 14760276
 IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development.
Pedreira CC, Savarirayan R, Zacharin MR.
J Pediatr. 2004;144(2):274-7.
Micrognathia Metaphyseal dysplasia
GH1
Bone Diseases, Developmental Child, Preschool Cryptorchidism External Ear Fetal Growth Retardation Growth Hormone Homo sapiens Male Micrognathism Syndrome
2
(53.9%)		 24313804
 IMAGe syndrome: clinical and genetic implications based on investigations in three Japanese patients.
Kato F, Hamajima T, Hasegawa T, Amano N, Horikawa R, Nishimura G, Nakashima S, Fuke T, Sano S, Fukami M, Ogata T.
Clin Endocrinol (Oxf). 2014;80(5):706-13.
Arachnodactyly Relative macrocephaly Metaphyseal dysplasia
CDKN1C KCNQ1OT1
p|SUB|D|274|N;RS#:387907225
Child Chromosomes, Human, Pair 11 Cyclin-Dependent Kinase Inhibitor p57 DNA Methylation Exons Females Fetal Growth Retardation Homo sapiens Japan Male Mutation Osteochondrodysplasias Phenotype Urogenital Abnormalities
3
(34.8%)		 21108398
 IMAGe syndrome: Case report with a previously unreported feature and review of published literature.
Balasubramanian M, Sprigg A, Johnson DS.
Am J Med Genet A. 2010;152A(12):3138-42.
Adrenal insufficiency Scoliosis Metaphyseal dysplasia
Bone Diseases, Developmental Child Cleft Palate Fetal Growth Retardation Homo sapiens Male Severity of Illness Index Syndrome
4
(32.7%)		 29506479
(5836387)
 A case of an infant suspected as IMAGE syndrome who were finally diagnosed with MIRAGE syndrome by targeted Mendelian exome sequencing.
Kim YM, Seo GH, Kim GH, Ko JM, Choi JH, Yoo HW.
BMC Med Genet. 2018;19(1):35.
Micropenis Metaphyseal dysplasia
Asians Cryptorchidism Cyclin-Dependent Kinase Inhibitor p57 Exons Fetal Growth Retardation Genital Diseases, Male Homo sapiens Infant, Newborn Intracellular Signaling Peptides and Proteins Male Mutation Osteochondrodysplasias Proteins Renin Urogenital Abnormalities Whole Exome Sequencing
4
(32.7%)		 25541901
(4293665)
 Is Hyperpigmentation on the First Day of Life Always Associated with IMAGe Syndrome?
Ozsu E, Yesiltepe Mutlu RG, Isk O, Cizmecioglu FM, Hatun .
J Clin Res Pediatr Endocrinol. 2014;6(4):266-8.
Adrenal insufficiency Metaphyseal dysplasia
Females Fetal Growth Retardation Homo sapiens Hyperpigmentation Infant, Newborn Osteochondrodysplasias Urogenital Abnormalities
4
(32.7%)		 25517553
 Anesthetic and dental management of a child with IMAGe syndrome.
Lindemeyer RG, Rashewsky SE, Louie PJ, Schleelein L.
Anesth Prog. 2014;61(4):165-8.
Adrenal hypoplasia Metaphyseal dysplasia
Anesthetics, Inhalation Child, Preschool Dental Care for Chronically Ill Dental Prophylaxis Dental Restoration, Permanent Females Fetal Growth Retardation General Anesthesia Gingivitis Homo sapiens Intubation, Intratracheal Mouth Rehabilitation Osteochondrodysplasias Periodontal Abscess Tooth Extraction Urogenital Abnormalities
4
(32.7%)		 16835919
 Two sisters with IMAGe syndrome: cytomegalic adrenal histopathology, support for autosomal recessive inheritance and literature review.
Tan TY, Jameson JL, Campbell PE, Ekert PG, Zacharin M, Savarirayan R.
Am J Med Genet A. 2006;140(16):1778-84.
Adrenal hypoplasia Metaphyseal dysplasia
NR0B1 SF1 STAR
Adrenal Glands Fatal Outcome Females Follow-Up Studies Genes, Recessive Genes, X-Linked Homo sapiens Infant Sibling Syndrome Ultrasonography, Prenatal
4
(32.7%)		 12736593
 [A peculiar form of neonatal adrenal insufficiency: the IMAGe association. Two new cases].
Ferey S, Merzoug V, Linglart A, Chaussain JL, Kalifa G.
J Radiol. 2003;84(3):323-5.
Osteopenia Metaphyseal dysplasia
Bone Diseases, Developmental Females Fetal Growth Retardation Genes, Recessive Genitalia Homo sapiens Infant, Newborn Male Syndrome
9
(4.0%)		 24824394
 [Clinically mild encephalitis/encephalopathy with a reversible splenial lesion of corpus callosum in a child and literature review].
Zhao L, Wu Y, Guo M, Xiao J, Jiang Y.
Zhonghua Er Ke Za Zhi. 2014;52(3):218-22.
Dysarthria
Bacterial Infections Brain Child Child, Preschool Corpus Callosum Diffusion Magnetic Resonance Imaging Electroencephalography Encephalitis Females Homo sapiens Male Mucocutaneous Lymph Node Syndrome Virus Diseases
9
(4.0%)		 24065356
 CDKN1C mutation affecting the PCNA-binding domain as a cause of familial Russell Silver syndrome.
Brioude F, Oliver-Petit I, Blaise A, Praz F, Rossignol S, Le Jule M, Thibaud N, Faussat AM, Tauber M, Le Bouc Y, Netchine I.
J Med Genet. 2013;50(12):823-30.
Adrenal insufficiency
CDKN1C ICR1 TGM1
p|SUB|R|279|L;RS#:318240750 p|SUB|R|279|P;RS#:318240750
Amino Acid Sequence Analysis of Variance Binding Sites Cyclin-Dependent Kinase Inhibitor p57 Females Fetal Growth Retardation HeLa Cells Homo sapiens Male Molecular Sequence Data Mutation Proliferating Cell Nuclear Antigen Sequence Alignment
        

Phenotype(s) retrieved from Orphanet

    Total: 13

HPO ID Term Frequency
HP:0000028 Cryptorchidism Very frequent (99-80%)
HP:0000047 Hypospadias Very frequent (99-80%)
HP:0000078 Abnormality of the genital system Very frequent (99-80%)
HP:0000126 Hydronephrosis Very frequent (99-80%)
HP:0000135 Hypogonadism Very frequent (99-80%)
HP:0000369 Low-set ears Very frequent (99-80%)
HP:0000835 Adrenal hypoplasia Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001511 Intrauterine growth retardation Very frequent (99-80%)
HP:0002007 Frontal bossing Very frequent (99-80%)
HP:0002983 Micromelia Very frequent (99-80%)
HP:0005280 Depressed nasal bridge Very frequent (99-80%)
HP:0100255 Metaphyseal dysplasia Very frequent (99-80%)


Phenotype(s) retrieved from case reports

    Total: 7

HPO ID Term # of case reports
HP:0000835 Adrenal hypoplasia 2
HP:0000846 Adrenal insufficiency 2
HP:0001166 Arachnodactyly 1
HP:0001298 Encephalopathy 1
HP:0001562 Oligohydramnios 1
HP:0004482 Relative macrocephaly 1
HP:0100255 Metaphyseal dysplasia 1


Causative gene(s) retrieved from Orphanet

    Total: 2

Gene Symbol Gene Name Entrez Gene ID
CDKN1C cyclin dependent kinase inhibitor 1C 1028
POLE DNA polymerase epsilon, catalytic subunit 5426