MCID: GRW027
MIFTS: 15

Growth Restriction, Severe, with Distinctive Facies

Categories: Genetic diseases

Aliases & Classifications for Growth Restriction, Severe, with Distinctive Facies

MalaCards integrated aliases for Growth Restriction, Severe, with Distinctive Facies:

Name: Growth Restriction, Severe, with Distinctive Facies 53 71
Grdf 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant (from paternal allele)

Miscellaneous:
clinical features present only if mutation inherited on paternal allele
based on report of 4 patients from 1 family (last curated july 2015)


HPO:

31
growth restriction, severe, with distinctive facies:
Inheritance autosomal dominant inheritance x-linked recessive inheritance


Classifications:



Summaries for Growth Restriction, Severe, with Distinctive Facies

UniProtKB/Swiss-Prot : 71 Growth restriction, severe, with distinctive facies: A disease characterized by severe prenatal and postnatal growth restriction, facial dysmorphism, and short stature in the presence of normal or slightly elevated growth hormone levels.

MalaCards based summary : Growth Restriction, Severe, with Distinctive Facies, is also known as grdf, and has symptoms including low-set ears, delayed skeletal maturation and short stature. An important gene associated with Growth Restriction, Severe, with Distinctive Facies is IGF2 (Insulin Like Growth Factor 2). Affiliated tissues include bone.

Description from OMIM: 616489

Related Diseases for Growth Restriction, Severe, with Distinctive Facies

Symptoms & Phenotypes for Growth Restriction, Severe, with Distinctive Facies

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
low-set ears
bilateral preauricular fistulas

Abdomen Gastroin testinal:
feeding difficulties in infancy

Head And Neck Head:
relative macrocephaly
late closure of fontanel

Skin Nails Hair Skin:
pigmented nevi

Growth Weight:
low weight

Genitourinary External Genitalia Male:
hypospadias (in some patients)
ambiguous genitalia (in some patients)

Skeletal Feet:
syndactyly of 2nd-3rd toes

Growth Other:
severe prenatal and postnatal growth restriction

Skeletal Limbs:
contracture with pterygium at elbow (rare)

Endocrine Features:
normal or slightly elevated growth hormone levels
some response to exogenous growth hormone
low serum igf2 levels
normal serum igf1 levels
normal serum igfbp3 levels

Growth Height:
short stature

Head And Neck Face:
prominent forehead
triangular face
micrognathia or retrognathia

Neurologic Central Nervous System:
hypotonia
delayed motor development
low to low-normal intelligence (in some patients)

Skeletal:
delayed bone age

Genitourinary Internal Genitalia Male:
cryptorchidism (in some patients)

Skeletal Skull:
late closure of fontanel

Skeletal Hands:
fifth-finger clinodactyly
absent 3rd through 5th digits (rare)

Cardiovascular Heart:
persistent ductus arteriosus (in some patients)
ventricular septal defect, small (in some patients)

Voice:
high-pitched voice in childhood

Prenatal Manifestations Amniotic Fluid:
oligohydramnion (in some patients)


Clinical features from OMIM:

616489

Human phenotypes related to Growth Restriction, Severe, with Distinctive Facies:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 low-set ears 31 HP:0000369
2 delayed skeletal maturation 31 HP:0002750
3 short stature 31 HP:0004322
4 feeding difficulties in infancy 31 HP:0008872
5 prominent forehead 31 HP:0011220
6 patent ductus arteriosus 31 occasional (7.5%) HP:0001643
7 cryptorchidism 31 occasional (7.5%) HP:0000028
8 melanocytic nevus 31 HP:0000995
9 hypospadias 31 occasional (7.5%) HP:0000047
10 triangular face 31 HP:0000325
11 ambiguous genitalia 31 occasional (7.5%) HP:0000062
12 decreased body weight 31 HP:0004325
13 motor delay 31 HP:0001270
14 relative macrocephaly 31 HP:0004482
15 generalized hypotonia 31 HP:0001290

Drugs & Therapeutics for Growth Restriction, Severe, with Distinctive Facies

Search Clinical Trials , NIH Clinical Center for Growth Restriction, Severe, with Distinctive Facies

Genetic Tests for Growth Restriction, Severe, with Distinctive Facies

Anatomical Context for Growth Restriction, Severe, with Distinctive Facies

MalaCards organs/tissues related to Growth Restriction, Severe, with Distinctive Facies:

38
Bone

Publications for Growth Restriction, Severe, with Distinctive Facies

Variations for Growth Restriction, Severe, with Distinctive Facies

ClinVar genetic disease variations for Growth Restriction, Severe, with Distinctive Facies:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 IGF2 NM_000612.5(IGF2): c.23C> A (p.Ser8Ter) single nucleotide variant Pathogenic rs869320620 GRCh38 Chromosome 11, 2135501: 2135501

Expression for Growth Restriction, Severe, with Distinctive Facies

Search GEO for disease gene expression data for Growth Restriction, Severe, with Distinctive Facies.

Pathways for Growth Restriction, Severe, with Distinctive Facies

GO Terms for Growth Restriction, Severe, with Distinctive Facies

Sources for Growth Restriction, Severe, with Distinctive Facies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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