Growth delay due to insulin-like growth factor type 1 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: IGF1 DEFICIENCY
GROWTH RETARDATION WITH SENSORINEURAL DEAFNESS AND MENTAL RETARDATION
IGF-1 deficiency
Growth delay - deafness- intellectual deficit
Primary insulin-like growth factor deficiency
Number of Symptoms 24
OrphanetNr: 73272
OMIM Id: 608747
ICD-10: E34.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Growth hormone insensitivity syndrome
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000347) Micrognathia 426 / 7739
2
 (HPO:0000252) Microcephaly 832 / 7739
3
 (HPO:0000508) Ptosis 459 / 7739
4
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
5
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
6
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
7
 (HPO:0001270) Motor delay 322 / 7739
8
 (HPO:0001249) Intellectual disability 1089 / 7739
9
 (HPO:0000752) Hyperactivity 140 / 7739
10
 (HPO:0000736) Short attention span 16 / 7739
11
 (HPO:0000938) Osteopenia 138 / 7739
12
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
13
 (HPO:0009466) Radial deviation of finger 101 / 7739
14
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
15
 (HPO:0004322) Short stature 1232 / 7739
16
 (HPO:0001510) Growth delay 295 / 7739
17
 (HPO:0004325) Decreased body weight 492 / 7739
18
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
19
 (OMIM) Decreased serum insulin-like growth factor 1 (IGF1) 3 / 7739
20
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
21
 (OMIM) Increased serum growth hormone 1 / 7739
22
 (HPO:0003577) Congenital onset 133 / 7739
23
 (MedDRA:10058668) Clinodactyly 91 / 7739
24
 (HPO:0030084) Clinodactyly 90 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Woods et al. (1996) described a 15-year-old boy, born of consanguineous parents, who had severe prenatal and postnatal growth failure, sensorineural deafness, and mental retardation. He was delivered at 37 weeks' gestation by cesarean section because of poor ...
Molecular genetics OMIM In a patient with severe intrauterine and postnatal growth retardation, Woods et al. (1996) identified a homozygous deletion in the IGF1 gene, resulting in a truncated protein. Genomic studies showed that both parents were heterozygous for the deletion. ...