MCID: GRW028
MIFTS: 24

Growth Retardation, Developmental Delay, Facial Dysmorphism

Categories: Genetic diseases, Fetal diseases, Rare diseases

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

MalaCards integrated aliases for Growth Retardation, Developmental Delay, Facial Dysmorphism:

Name: Growth Retardation, Developmental Delay, Facial Dysmorphism 54
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death 69
Growth Retardation Developmental Delay Coarse Facies Early Death 71
Growth Retardation, Developmental Delay, and Facial Dysmorphism 71
Lethal Polymalformative Syndrome, Boissel Type 56
Lethal Polymalformative Syndrome Boissel Type 71
Gdfd 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
death by age 3 years


HPO:

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


Classifications:



Summaries for Growth Retardation, Developmental Delay, Facial Dysmorphism

UniProtKB/Swiss-Prot : 71 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, is also known as growth retardation, developmental delay, coarse facies, and early death, and has symptoms including failure to thrive, macroglossia and brachydactyly. An important gene associated with Growth Retardation, Developmental Delay, Facial Dysmorphism is FTO (FTO, Alpha-Ketoglutarate Dependent Dioxygenase). The drugs Copper and Micronutrients 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 anomaly syndrome characterized by severe psychomotor retardation, poor overall growth, and dysmorphic facial features. Additional features may include cardiac malformations and deafness (summary by Daoud et al., 2016). (612938)

Related Diseases for Growth Retardation, Developmental Delay, Facial Dysmorphism

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

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Face:
coarse facies
retrognathia
prominent alveolar ridge

Skeletal- Hands:
brachydactyly
drumstick fingers

Neurologic- Central Nervous System:
seizures
hydrocephalus
lissencephaly
dandy-walker malformation
developmental delay, severe
more
Growth- Other:
intrauterine growth retardation
failure to thrive, severe

Cardiovascular- Vascular:
patent ductus arteriosus

Genitourinary- Internal Genitalia Male:
cryptorchidism

Skin Nails & Hair- Skin:
cutis marmorata

Skeletal- Skull:
skull asymmetry

Genitourinary- External Genitalia Female:
genital ambiguity
hypertrophy of the labia

Skin Nails & Hair- Nails:
toenail hypoplasia

Head And Neck- Nose:
anteverted nostrils

Muscle Soft Tissue:
umbilical hernia

Head And Neck- Head:
microcephaly

Head And Neck- Mouth:
cleft palate
bifid uvula
protruding tongue
thin vermilion

Cardiovascular- Heart:
hypertrophic cardiomyopathy
ventricular septal defect
atrioventricular defect

Head And Neck- Neck:
short neck

Head And Neck- Ears:
sensorineural deafness

Head And Neck- Eyes:
optic disc abnormalities

Genitourinary- External Genitalia Male:
genital ambiguity


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

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):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Copper Approved Phase 1, Phase 2 7440-50-8 27099
2 Micronutrients Phase 1, Phase 2
3 Trace Elements Phase 1, Phase 2
4 histidine Nutraceutical Phase 1, Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Copper Histidine Therapy for Menkes Diseases Completed NCT00001262 Phase 1, Phase 2 Copper Histidine
2 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

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:

71
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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