MCID: GRW039
MIFTS: 23

Growth Retardation, Developmental Delay, and Facial Dysmorphism

Categories: Genetic diseases, Fetal diseases, Rare diseases

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

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

Name: Growth Retardation, Developmental Delay, and Facial Dysmorphism 57 75
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death 37 29 13 6 40 73
Gdfd 57 75
Growth Retardation Developmental Delay Coarse Facies Early Death 75
Growth Retardation, Developmental Delay, Facial Dysmorphism 57
Lethal Polymalformative Syndrome, Boissel Type 59
Lethal Polymalformative Syndrome Boissel Type 75

Characteristics:

Orphanet epidemiological data:

59
lethal polymalformative syndrome, boissel type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
death by age 3 years


HPO:

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


Classifications:



Summaries for Growth Retardation, Developmental Delay, and Facial Dysmorphism

UniProtKB/Swiss-Prot : 75 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, and Facial Dysmorphism, is also known as growth retardation, developmental delay, coarse facies, and early death, and has symptoms including seizures An important gene associated with Growth Retardation, Developmental Delay, and Facial Dysmorphism is FTO (FTO, Alpha-Ketoglutarate Dependent Dioxygenase). Affiliated tissues include brain and tongue, and related phenotypes are short neck and obesity

OMIM : 57 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, and Facial Dysmorphism

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck

Muscle Soft Tissue:
umbilical hernia

Cardiovascular Heart:
hypertrophic cardiomyopathy
ventricular septal defect
atrioventricular defect

Head And Neck Face:
retrognathia
coarse facies
prominent alveolar ridge

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Skeletal Hands:
brachydactyly
drumstick fingers

Head And Neck Nose:
anteverted nostrils

Skeletal Skull:
skull asymmetry

Genitourinary External Genitalia Male:
genital ambiguity

Skin Nails Hair Nails:
toenail hypoplasia

Neurologic Central Nervous System:
hydrocephalus
seizures
dandy-walker malformation
lissencephaly
developmental delay, severe
more
Head And Neck Head:
microcephaly

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

Cardiovascular Vascular:
patent ductus arteriosus

Growth Other:
intrauterine growth retardation
failure to thrive, severe

Skin Nails Hair Skin:
cutis marmorata

Head And Neck Ears:
sensorineural deafness

Head And Neck Eyes:
optic disc abnormalities

Genitourinary External Genitalia Female:
genital ambiguity
hypertrophy of the labia


Clinical features from OMIM:

612938

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

32 (show all 28)
# Description HPO Frequency HPO Source Accession
1 short neck 32 HP:0000470
2 obesity 32 HP:0001513
3 hydrocephalus 32 HP:0000238
4 seizures 32 HP:0001250
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 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, and Facial Dysmorphism:


seizures

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

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

Genetic Tests for Growth Retardation, Developmental Delay, and Facial Dysmorphism

Genetic tests related to Growth Retardation, Developmental Delay, and Facial Dysmorphism:

# Genetic test Affiliating Genes
1 Growth Retardation, Developmental Delay, Coarse Facies, and Early Death 29 FTO

Anatomical Context for Growth Retardation, Developmental Delay, and Facial Dysmorphism

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

41
Brain, Tongue

Publications for Growth Retardation, Developmental Delay, and Facial Dysmorphism

Variations for Growth Retardation, Developmental Delay, and Facial Dysmorphism

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

75
# Symbol AA change Variation ID SNP ID
1 FTO p.Arg316Gln VAR_063252 rs121918214
2 FTO p.Ser319Phe VAR_075468 rs781028867
3 FTO p.Arg322Gln VAR_075469 rs745616565

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

6
(show top 50) (show all 138)
# 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.947G> A (p.Arg316Gln) single nucleotide variant Pathogenic rs121918214 GRCh38 Chromosome 16, 53873837: 53873837
3 FTO NM_001080432.2(FTO): c.956C> T (p.Ser319Phe) single nucleotide variant Pathogenic/Likely pathogenic rs781028867 GRCh37 Chromosome 16, 53907758: 53907758
4 FTO NM_001080432.2(FTO): c.956C> T (p.Ser319Phe) single nucleotide variant Pathogenic/Likely pathogenic rs781028867 GRCh38 Chromosome 16, 53873846: 53873846
5 FTO NM_001080432.2(FTO): c.-137G> C single nucleotide variant Uncertain significance rs886052100 GRCh38 Chromosome 16, 53704048: 53704048
6 FTO NM_001080432.2(FTO): c.-137G> C single nucleotide variant Uncertain significance rs886052100 GRCh37 Chromosome 16, 53737960: 53737960
7 FTO NM_001080432.2(FTO): c.-4delC deletion Uncertain significance rs141907159 GRCh38 Chromosome 16, 53704181: 53704181
8 FTO NM_001080432.2(FTO): c.-4delC deletion Uncertain significance rs141907159 GRCh37 Chromosome 16, 53738093: 53738093
9 FTO NM_001080432.2(FTO): c.99C> T (p.Pro33=) single nucleotide variant Uncertain significance rs116753298 GRCh38 Chromosome 16, 53810193: 53810193
10 FTO NM_001080432.2(FTO): c.99C> T (p.Pro33=) single nucleotide variant Uncertain significance rs116753298 GRCh37 Chromosome 16, 53844105: 53844105
11 FTO NM_001080432.2(FTO): c.174T> C (p.Ser58=) single nucleotide variant Uncertain significance rs146056278 GRCh38 Chromosome 16, 53825914: 53825914
12 FTO NM_001080432.2(FTO): c.174T> C (p.Ser58=) single nucleotide variant Uncertain significance rs146056278 GRCh37 Chromosome 16, 53859826: 53859826
13 FTO NM_001080432.2(FTO): c.400G> A (p.Ala134Thr) single nucleotide variant Likely benign rs79206939 GRCh38 Chromosome 16, 53826140: 53826140
14 FTO NM_001080432.2(FTO): c.400G> A (p.Ala134Thr) single nucleotide variant Likely benign rs79206939 GRCh37 Chromosome 16, 53860052: 53860052
15 FTO NM_001080432.2(FTO): c.1119+12_1119+15delCTTT deletion Uncertain significance rs886052105 GRCh38 Chromosome 16, 53879999: 53880002
16 FTO NM_001080432.2(FTO): c.1119+12_1119+15delCTTT deletion Uncertain significance rs886052105 GRCh37 Chromosome 16, 53913911: 53913914
17 FTO NM_001080432.2(FTO): c.*301G> A single nucleotide variant Uncertain significance rs36037154 GRCh38 Chromosome 16, 54112216: 54112216
18 FTO NM_001080432.2(FTO): c.*301G> A single nucleotide variant Uncertain significance rs36037154 GRCh37 Chromosome 16, 54146128: 54146128
19 FTO NM_001080432.2(FTO): c.*509G> A single nucleotide variant Uncertain significance rs886052109 GRCh38 Chromosome 16, 54112424: 54112424
20 FTO NM_001080432.2(FTO): c.*509G> A single nucleotide variant Uncertain significance rs886052109 GRCh37 Chromosome 16, 54146336: 54146336
21 FTO NM_001080432.2(FTO): c.*619A> C single nucleotide variant Likely benign rs149440289 GRCh38 Chromosome 16, 54112534: 54112534
22 FTO NM_001080432.2(FTO): c.*619A> C single nucleotide variant Likely benign rs149440289 GRCh37 Chromosome 16, 54146446: 54146446
23 FTO NM_001080432.2(FTO): c.*931C> A single nucleotide variant Likely benign rs116372569 GRCh38 Chromosome 16, 54112846: 54112846
24 FTO NM_001080432.2(FTO): c.*931C> A single nucleotide variant Likely benign rs116372569 GRCh37 Chromosome 16, 54146758: 54146758
25 FTO NM_001080432.2(FTO): c.*1071G> C single nucleotide variant Likely benign rs114521424 GRCh38 Chromosome 16, 54112986: 54112986
26 FTO NM_001080432.2(FTO): c.*1071G> C single nucleotide variant Likely benign rs114521424 GRCh37 Chromosome 16, 54146898: 54146898
27 FTO NM_001080432.2(FTO): c.*1315C> T single nucleotide variant Likely benign rs76606072 GRCh37 Chromosome 16, 54147142: 54147142
28 FTO NM_001080432.2(FTO): c.*1315C> T single nucleotide variant Likely benign rs76606072 GRCh38 Chromosome 16, 54113230: 54113230
29 FTO NM_001080432.2(FTO): c.*1379delC deletion Likely benign rs886052111 GRCh37 Chromosome 16, 54147206: 54147206
30 FTO NM_001080432.2(FTO): c.*1379delC deletion Likely benign rs886052111 GRCh38 Chromosome 16, 54113294: 54113294
31 FTO NM_001080432.2(FTO): c.*1592G> A single nucleotide variant Uncertain significance rs886052113 GRCh37 Chromosome 16, 54147419: 54147419
32 FTO NM_001080432.2(FTO): c.*1592G> A single nucleotide variant Uncertain significance rs886052113 GRCh38 Chromosome 16, 54113507: 54113507
33 FTO NM_001080432.2(FTO): c.*1724A> G single nucleotide variant Uncertain significance rs80079461 GRCh37 Chromosome 16, 54147551: 54147551
34 FTO NM_001080432.2(FTO): c.*1724A> G single nucleotide variant Uncertain significance rs80079461 GRCh38 Chromosome 16, 54113639: 54113639
35 FTO NM_001080432.2(FTO): c.*1767delG deletion Uncertain significance rs886052115 GRCh37 Chromosome 16, 54147594: 54147594
36 FTO NM_001080432.2(FTO): c.*1767delG deletion Uncertain significance rs886052115 GRCh38 Chromosome 16, 54113682: 54113682
37 FTO NM_001080432.2(FTO): c.*1829G> A single nucleotide variant Uncertain significance rs886052116 GRCh37 Chromosome 16, 54147656: 54147656
38 FTO NM_001080432.2(FTO): c.*1829G> A single nucleotide variant Uncertain significance rs886052116 GRCh38 Chromosome 16, 54113744: 54113744
39 FTO NM_001080432.2(FTO): c.*1896delC deletion Uncertain significance rs886052117 GRCh38 Chromosome 16, 54113811: 54113811
40 FTO NM_001080432.2(FTO): c.*1896delC deletion Uncertain significance rs886052117 GRCh37 Chromosome 16, 54147723: 54147723
41 FTO NM_001080432.2(FTO): c.*1911dupT duplication Uncertain significance rs886052118 GRCh38 Chromosome 16, 54113826: 54113826
42 FTO NM_001080432.2(FTO): c.*1911dupT duplication Uncertain significance rs886052118 GRCh37 Chromosome 16, 54147738: 54147738
43 FTO NM_001080432.2(FTO): c.*2249A> T single nucleotide variant Likely benign rs75681401 GRCh38 Chromosome 16, 54114164: 54114164
44 FTO NM_001080432.2(FTO): c.*2249A> T single nucleotide variant Likely benign rs75681401 GRCh37 Chromosome 16, 54148076: 54148076
45 FTO NM_001080432.2(FTO): c.*2333C> T single nucleotide variant Uncertain significance rs769012175 GRCh38 Chromosome 16, 54114248: 54114248
46 FTO NM_001080432.2(FTO): c.*2333C> T single nucleotide variant Uncertain significance rs769012175 GRCh37 Chromosome 16, 54148160: 54148160
47 FTO NM_001080432.2(FTO): c.*2362G> T single nucleotide variant Uncertain significance rs45564131 GRCh38 Chromosome 16, 54114277: 54114277
48 FTO NM_001080432.2(FTO): c.*2362G> T single nucleotide variant Uncertain significance rs45564131 GRCh37 Chromosome 16, 54148189: 54148189
49 FTO NM_001080432.2(FTO): c.45+8G> T single nucleotide variant Uncertain significance rs886052101 GRCh38 Chromosome 16, 53704237: 53704237
50 FTO NM_001080432.2(FTO): c.45+8G> T single nucleotide variant Uncertain significance rs886052101 GRCh37 Chromosome 16, 53738149: 53738149

Expression for Growth Retardation, Developmental Delay, and Facial Dysmorphism

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

Pathways for Growth Retardation, Developmental Delay, and Facial Dysmorphism

GO Terms for Growth Retardation, Developmental Delay, and Facial Dysmorphism

Sources for Growth Retardation, Developmental Delay, and Facial Dysmorphism

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