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Growth delay due to insulin-like growth factor type 1 deficiency(IGF1D)

MedGen UID:
373337
Concept ID:
C1837475
Disease or Syndrome
Synonyms: Growth retardation with sensorineural deafness and mental retardation; IGF1 deficiency; IGF1D; Insulin-like growth factor I deficiency
SNOMED CT: Growth delay due to insulin-like growth factor type 1 deficiency (724385009); Growth delay, deafness, intellectual disability syndrome (724385009); IGF-1 (insulin-like growth factor 1) deficiency (724385009); Primary insulin-like growth factor deficiency (724385009)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): IGF1 (12q23.2)
 
Monarch Initiative: MONDO:0012110
OMIM®: 608747
Orphanet: ORPHA73272

Definition

Insulin-like growth factor I deficiency (IGF1D) is characterized by severe pre- and postnatal growth failure, sensorineural deafness, and impaired motor and intellectual development (summary by Bonapace et al., 2003). [from OMIM]

Clinical features

From HPO
Clinodactyly of the 5th finger
MedGen UID:
340456
Concept ID:
C1850049
Congenital Abnormality
Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger).
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Postnatal growth retardation
MedGen UID:
395343
Concept ID:
C1859778
Finding
Slow or limited growth after birth.
Decreased body weight
MedGen UID:
1806755
Concept ID:
C5574742
Finding
Abnormally low body weight.
Sensorineural hearing loss disorder
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Short attention span
MedGen UID:
82652
Concept ID:
C0262630
Finding
Reduced attention span characterized by distractibility and impulsivity.
Hyperactivity
MedGen UID:
98406
Concept ID:
C0424295
Finding
Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Osteopenia
MedGen UID:
18222
Concept ID:
C0029453
Disease or Syndrome
Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Delayed skeletal maturation
MedGen UID:
108148
Concept ID:
C0541764
Finding
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Elevated circulating growth hormone concentration
MedGen UID:
66732
Concept ID:
C0235986
Finding
Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness.
Decreased serum insulin-like growth factor 1
MedGen UID:
892792
Concept ID:
C4072897
Finding
A reduced level of insulin-like growth factor 1 (IGF1) in the blood circulation.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGrowth delay due to insulin-like growth factor type 1 deficiency
Follow this link to review classifications for Growth delay due to insulin-like growth factor type 1 deficiency in Orphanet.

Professional guidelines

PubMed

Faienza MF, Acquafredda A, D'Aniello M, Soldano L, Marzano F, Ventura A, Cavallo L
J Pediatr Endocrinol Metab 2013;26(7-8):771-4. doi: 10.1515/jpem-2012-0397. PMID: 23612698
Yuen KC, Dunger DB
Growth Horm IGF Res 2006 Jul;16 Suppl A:S55-61. Epub 2006 Apr 18 doi: 10.1016/j.ghir.2006.03.001. PMID: 16624605
Eshet R, Klinger B, Silbergeld A, Laron Z
Clin Endocrinol (Oxf) 1993 Dec;39(6):687-93. doi: 10.1111/j.1365-2265.1993.tb02428.x. PMID: 8287588

Recent clinical studies

Therapy

Xue C, Fu J
Zhejiang Da Xue Xue Bao Yi Xue Ban 2022 Aug 1;51(4):515-520. doi: 10.3724/zdxbyxb-2022-0099. PMID: 37202099Free PMC Article
Hodax JK, DiVall SA
Curr Opin Endocrinol Diabetes Obes 2020 Feb;27(1):82-86. doi: 10.1097/MED.0000000000000513. PMID: 31789832
López IP, Rodriguez-de la Rosa L, Pais RS, Piñeiro-Hermida S, Torrens R, Contreras J, Varela-Nieto I, Pichel JG
Transgenic Res 2015 Apr;24(2):279-94. Epub 2014 Sep 20 doi: 10.1007/s11248-014-9837-5. PMID: 25238791
Faienza MF, Acquafredda A, D'Aniello M, Soldano L, Marzano F, Ventura A, Cavallo L
J Pediatr Endocrinol Metab 2013;26(7-8):771-4. doi: 10.1515/jpem-2012-0397. PMID: 23612698
Drugs R D 2005;6(2):120-7. doi: 10.2165/00126839-200506020-00008. PMID: 15777106

Prognosis

Keselman AC, Martin A, Scaglia PA, Sanguineti NM, Armando R, Gutiérrez M, Braslavsky D, Ballerini MG, Ropelato MG, Ramirez L, Landi E, Domené S, Castro JF, Cassinelli H, Casali B, Del Rey G, Barros ÁC, Nevado Blanco J, Domené H, Jasper H, Arberas C, Rey RA, Lapunzina-Badía P, Bergadá I, Pennisi PA
Eur J Endocrinol 2019 Nov;181(5):K43-K53. doi: 10.1530/EJE-19-0563. PMID: 31539878
Sahashi K, Ling KK, Hua Y, Wilkinson JE, Nomakuchi T, Rigo F, Hung G, Xu D, Jiang YP, Lin RZ, Ko CP, Bennett CF, Krainer AR
EMBO Mol Med 2013 Oct;5(10):1586-601. Epub 2013 Sep 9 doi: 10.1002/emmm.201302567. PMID: 24014320Free PMC Article
Ester WA, van Duyvenvoorde HA, de Wit CC, Broekman AJ, Ruivenkamp CA, Govaerts LC, Wit JM, Hokken-Koelega AC, Losekoot M
J Clin Endocrinol Metab 2009 Dec;94(12):4717-27. Epub 2009 Oct 28 doi: 10.1210/jc.2008-1502. PMID: 19864454
Weinzimer SA, Homan SA, Ferry RJ, Moshang T
Clin Endocrinol (Oxf) 1999 Sep;51(3):339-45. doi: 10.1046/j.1365-2265.1999.00804.x. PMID: 10469014

Clinical prediction guides

Wei J, Zhang L, Ding Y, Liu R, Guo Y, Hettinghouse A, Buza J, De La Croix J, Li X, Einhorn TA, Liu CJ
Ann N Y Acad Sci 2020 Jan;1460(1):43-56. Epub 2019 Aug 18 doi: 10.1111/nyas.14208. PMID: 31423598Free PMC Article
Li Y, Wu C, Gu J, Li D, Yang Y
Mol Med Rep 2019 Jul;20(1):65-72. Epub 2019 May 16 doi: 10.3892/mmr.2019.10255. PMID: 31115572
Faienza MF, Acquafredda A, D'Aniello M, Soldano L, Marzano F, Ventura A, Cavallo L
J Pediatr Endocrinol Metab 2013;26(7-8):771-4. doi: 10.1515/jpem-2012-0397. PMID: 23612698
Domené HM, Scaglia PA, Jasper HG
Pediatr Endocrinol Rev 2010 Jun;7(4):339-46. PMID: 20679994
Drugs R D 2005;6(2):120-7. doi: 10.2165/00126839-200506020-00008. PMID: 15777106

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