GDFD
MCID: GRW028
MIFTS: 23

Growth Retardation, Developmental Delay, Facial Dysmorphism (GDFD) malady

Categories: Genetic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Growth Retardation, Developmental Delay, Facial Dysmorphism

Aliases & Descriptions for Growth Retardation, Developmental Delay, Facial Dysmorphism:

Name: Growth Retardation, Developmental Delay, Facial Dysmorphism 54
Growth Retardation, Developmental Delay, and Facial Dysmorphism 54 66
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death 69
Growth Retardation Developmental Delay Coarse Facies Early Death 66
Lethal Polymalformative Syndrome, Boissel Type 56
Lethal Polymalformative Syndrome Boissel Type 66
Gdfd 66

Characteristics:

Orphanet epidemiological data:

56
lethal polymalformative syndrome, boissel type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
growth retardation, developmental delay, facial dysmorphism:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 612938
Orphanet 56 ORPHA210144
ICD10 via Orphanet 34 Q87.8
MedGen 40 C2752001
MeSH 42 D000015

Summaries for Growth Retardation, Developmental Delay, Facial Dysmorphism

UniProtKB/Swiss-Prot : 66 Growth retardation, developmental delay, and facial dysmorphism: A severe polymalformation syndrome characterized by postnatal growth retardation, microcephaly, severe psychomotor delay, functional brain deficits and characteristic facial dysmorphism. In some patients, structural brain malformations, cardiac defects, genital anomalies, and cleft palate are observed. Early death occurs by the age of 3 years.

MalaCards based summary : Growth Retardation, Developmental Delay, Facial Dysmorphism, also known as growth retardation, developmental delay, and facial dysmorphism, is related to growth retardation, developmental delay, coarse facies, and early death, and has symptoms including seizures, short neck and obesity. An important gene associated with Growth Retardation, Developmental Delay, Facial Dysmorphism is FTO (FTO, Alpha-Ketoglutarate Dependent Dioxygenase). The drugs Copper and Vitamin C have been mentioned in the context of this disorder. Affiliated tissues include brain and tongue.

OMIM : 54 Growth retardation, developmental delay, and facial dysmorphism (GDFD) is an autosomal recessive multiple congenital... (612938) more...

Related Diseases for Growth Retardation, Developmental Delay, Facial Dysmorphism

Diseases related to Growth Retardation, Developmental Delay, Facial Dysmorphism via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 growth retardation, developmental delay, coarse facies, and early death 11.5

Symptoms & Phenotypes for Growth Retardation, Developmental Delay, Facial Dysmorphism

Symptoms by clinical synopsis from OMIM:

612938

Clinical features from OMIM:

612938

Human phenotypes related to Growth Retardation, Developmental Delay, Facial Dysmorphism:

32 (show all 28)
id Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 short neck 32 HP:0000470
3 obesity 32 HP:0001513
4 hydrocephalus 32 HP:0000238
5 failure to thrive 32 HP:0001508
6 macroglossia 32 HP:0000158
7 coarse facial features 32 HP:0000280
8 global developmental delay 32 HP:0001263
9 umbilical hernia 32 HP:0001537
10 microcephaly 32 HP:0000252
11 sensorineural hearing impairment 32 HP:0000407
12 anteverted nares 32 HP:0000463
13 hypertonia 32 HP:0001276
14 hypertrophic cardiomyopathy 32 HP:0001639
15 cleft palate 32 HP:0000175
16 retrognathia 32 HP:0000278
17 patent ductus arteriosus 32 HP:0001643
18 cryptorchidism 32 HP:0000028
19 intrauterine growth retardation 32 HP:0001511
20 small nail 32 HP:0001792
21 brachydactyly syndrome 32 HP:0001156
22 protruding tongue 32 HP:0010808
23 ventricular septal defect 32 HP:0001629
24 dandy-walker malformation 32 HP:0001305
25 lissencephaly 32 HP:0001339
26 bifid uvula 32 HP:0000193
27 cutis marmorata 32 HP:0000965
28 skull asymmetry 32 HP:0002678

UMLS symptoms related to Growth Retardation, Developmental Delay, Facial Dysmorphism:


seizures

Drugs & Therapeutics for Growth Retardation, Developmental Delay, Facial Dysmorphism

Drugs for Growth Retardation, Developmental Delay, Facial Dysmorphism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Copper Approved Phase 1, Phase 2 15158-11-9, 7440-50-8 27099
2
Vitamin C Approved, Nutraceutical Phase 2 50-81-7 5785 54670067
3
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
4 Micronutrients Phase 1, Phase 2
5 Trace Elements Phase 1, Phase 2
6 Antioxidants Phase 2
7 Protective Agents Phase 2
8 Tocopherols Phase 2
9 Tocotrienols Phase 2
10 Vitamins Phase 2
11 histidine Nutraceutical Phase 1, Phase 2
12 Tocopherol Nutraceutical Phase 2
13 Tocotrienol Nutraceutical Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Copper Histidine Therapy for Menkes Diseases Completed NCT00001262 Phase 1, Phase 2
2 Safety and Efficacy Study of Antioxidants for the Treatment of the Fragile X Syndrome Completed NCT01329770 Phase 2

Search NIH Clinical Center for Growth Retardation, Developmental Delay, Facial Dysmorphism

Genetic Tests for Growth Retardation, Developmental Delay, Facial Dysmorphism

Anatomical Context for Growth Retardation, Developmental Delay, Facial Dysmorphism

MalaCards organs/tissues related to Growth Retardation, Developmental Delay, Facial Dysmorphism:

39
Brain, Tongue

Publications for Growth Retardation, Developmental Delay, Facial Dysmorphism

Variations for Growth Retardation, Developmental Delay, Facial Dysmorphism

UniProtKB/Swiss-Prot genetic disease variations for Growth Retardation, Developmental Delay, Facial Dysmorphism:

66
id Symbol AA change Variation ID SNP ID
1 FTO p.Arg316Gln VAR_063252 rs121918214
2 FTO p.Ser319Phe VAR_075468
3 FTO p.Arg322Gln VAR_075469 rs745616565

ClinVar genetic disease variations for Growth Retardation, Developmental Delay, Facial Dysmorphism:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 FTO NM_001080432.2(FTO): c.947G> A (p.Arg316Gln) single nucleotide variant Pathogenic rs121918214 GRCh37 Chromosome 16, 53907749: 53907749
2 FTO NM_001080432.2(FTO): c.956C> T (p.Ser319Phe) single nucleotide variant Pathogenic/Likely pathogenic rs781028867 GRCh37 Chromosome 16, 53907758: 53907758

Expression for Growth Retardation, Developmental Delay, Facial Dysmorphism

Search GEO for disease gene expression data for Growth Retardation, Developmental Delay, Facial Dysmorphism.

Pathways for Growth Retardation, Developmental Delay, Facial Dysmorphism

GO Terms for Growth Retardation, Developmental Delay, Facial Dysmorphism

Sources for Growth Retardation, Developmental Delay, Facial Dysmorphism

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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