IMAGe syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: IMAGE SYNDROME
Intrauterine growth retardation - metaphyseal dysplasia - adrenal hypoplasia congenita - genital anomalies
Number of Symptoms 34
OrphanetNr: 85173
OMIM Id: 614732
ICD-10: Q87.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 20 cases [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic chronic primary adrenal insufficiency
 -Rare endocrine disease
 -Rare genetic disease
Slender bone dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic urogenital tract malformation
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare urogenital disease

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739
3
 (HPO:0000047) Hypospadias Very frequent [Orphanet] 250 / 7739
4
 (HPO:0000072) Hydroureter Very frequent [Orphanet] 146 / 7739
5
 (HPO:0000054) Micropenis 257 / 7739
6
 (HPO:0002150) Hypercalciuria 45 / 7739
7
 (HPO:0000256) Macrocephaly rare [HPO:skoehler] 298 / 7739
8
 (HPO:0003196) Short nose 264 / 7739
9
 (HPO:0004482) Relative macrocephaly 44 / 7739
10
 (HPO:0005280) Depressed nasal bridge Very frequent [Orphanet] 381 / 7739
11
 (HPO:0011220) Prominent forehead 137 / 7739
12
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
13
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
14
 (HPO:0000369) Low-set ears 372 / 7739
15
 (HPO:0001263) Global developmental delay rare [HPO:skoehler] 853 / 7739
16
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
17
 (HPO:0000835) Adrenal hypoplasia 23 / 7739
18
 (HPO:0000824) Growth hormone deficiency 56 / 7739
19
 (HPO:0000834) Abnormality of the adrenal glands Very frequent [Orphanet] 14 / 7739
20
 (HPO:0008244) Congenital adrenal hypoplasia 3 / 7739
21
 (HPO:0100255) Metaphyseal dysplasia 26 / 7739
22
 (HPO:0000924) Abnormality of the skeletal system Very frequent [Orphanet] 114 / 7739
23
 (HPO:0002656) Epiphyseal dysplasia 25 / 7739
24
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
25
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
26
 (HPO:0008897) Postnatal growth retardation 113 / 7739
27
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
28
 (HPO:0003072) Hypercalcemia 36 / 7739
29
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
30
 (OMIM) Adrenal crisis in neonatal period 1 / 7739
31
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
32
 (OMIM) Normal 14 / 7739
33
 (OMIM) Renal calcification (in some patients) 1 / 7739
34
 (HPO:0001355) Megalencephaly 39 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) IMAGE syndrome is a rare multisystem disorder characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. Patients with this condition may present shortly after birth with severe adrenal insufficiency, which can be life-threatening if ...
Clinical Description OMIM Vilain et al. (1999) reported 3 boys with adrenal hypoplasia congenita (AHC; see 300200) and additional findings representing a novel syndrome that they designated IMAGE: intrauterine growth retardation, metaphyseal dysplasia, AHC, and genital anomalies. The patients presented shortly ...
Molecular genetics OMIM In 2 patients from the 5-generation Argentinian family with IMAGE syndrome originally reported by Bergada et al. (2005) and 3 additional unrelated patients, Arboleda et al. (2012) performed targeted high-throughput genomic sequencing of all exons within a conservative ...