MCID: GRW027
MIFTS: 14

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 54 71
Grdf 71

Characteristics:

OMIM:

54
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:

32
growth restriction, severe, with distinctive facies:
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 short stature, low-set ears and ambiguous genitalia. 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:

54

Growth- Height:
short stature

Skeletal:
delayed bone age

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

Head And Neck- Head:
relative macrocephaly
late closure of fontanel

Abdomen- Gastroin testinal:
feeding difficulties in infancy

Skeletal- Feet:
syndactyly of 2nd-3rd toes

Growth- Other:
severe prenatal and postnatal growth restriction

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

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

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

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

Growth- Weight:
low weight

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

Genitourinary- Internal Genitalia Male:
cryptorchidism (in some patients)

Skin Nails & Hair- Skin:
pigmented nevi

Skeletal- Skull:
late closure of fontanel

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

32 (show all 15)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 low-set ears 32 HP:0000369
3 ambiguous genitalia 32 occasional (7.5%) HP:0000062
4 prominent forehead 32 HP:0011220
5 patent ductus arteriosus 32 occasional (7.5%) HP:0001643
6 hypospadias 32 occasional (7.5%) HP:0000047
7 cryptorchidism 32 occasional (7.5%) HP:0000028
8 motor delay 32 HP:0001270
9 triangular face 32 HP:0000325
10 relative macrocephaly 32 HP:0004482
11 muscular hypotonia 32 HP:0001252
12 feeding difficulties in infancy 32 HP:0008872
13 delayed skeletal maturation 32 HP:0002750
14 melanocytic nevus 32 HP:0000995
15 decreased body weight 32 HP:0004325

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:

39
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
id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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