GDFD
MCID: GRW039
MIFTS: 27

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

Categories: Fetal diseases, Genetic diseases, Neuronal 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 72
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death 36 29 13 6 39 70
Gdfd 57 72
Growth Retardation Developmental Delay Coarse Facies Early Death 72
Growth Retardation, Developmental Delay, Facial Dysmorphism 57
Lethal Polymalformative Syndrome, Boissel Type 58
Lethal Polymalformative Syndrome Boissel Type 72

Characteristics:

Orphanet epidemiological data:

58
lethal polymalformative syndrome, boissel type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
death by age 3 years


HPO:

31
growth retardation, developmental delay, and facial dysmorphism:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Growth Retardation, Developmental Delay, and Facial Dysmorphism

UniProtKB/Swiss-Prot : 72 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 tongue, and related phenotypes are failure to thrive and hydrocephalus

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) (Updated 20-May-2021)

KEGG : 36 This disease is characterized by postnatal growth retardation, microcephaly, severe psychomotor delay, functional brain deficits, and characteristic facial dysmorphism. Death within 30 months after birth occurs due to intercurrent infection or unidentified cause in these patients.

Related Diseases for Growth Retardation, Developmental Delay, and Facial Dysmorphism

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

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

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 hydrocephalus 31 HP:0000238
3 short neck 31 HP:0000470
4 macroglossia 31 HP:0000158
5 coarse facial features 31 HP:0000280
6 global developmental delay 31 HP:0001263
7 umbilical hernia 31 HP:0001537
8 microcephaly 31 HP:0000252
9 sensorineural hearing impairment 31 HP:0000407
10 anteverted nares 31 HP:0000463
11 hypertonia 31 HP:0001276
12 cryptorchidism 31 HP:0000028
13 intrauterine growth retardation 31 HP:0001511
14 retrognathia 31 HP:0000278
15 obesity 31 HP:0001513
16 hypertrophic cardiomyopathy 31 HP:0001639
17 brachydactyly 31 HP:0001156
18 protruding tongue 31 HP:0010808
19 patent ductus arteriosus 31 HP:0001643
20 dandy-walker malformation 31 HP:0001305
21 ventricular septal defect 31 HP:0001629
22 cutis marmorata 31 HP:0000965
23 bifid uvula 31 HP:0000193
24 lissencephaly 31 HP:0001339
25 small nail 31 HP:0001792
26 seizure 31 HP:0001250
27 skull asymmetry 31 HP:0002678

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
hydrocephalus
dandy-walker malformation
lissencephaly
developmental delay, severe
more
Muscle Soft Tissue:
umbilical hernia

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

Growth Other:
intrauterine growth retardation
failure to thrive, severe

Cardiovascular Heart:
hypertrophic cardiomyopathy
ventricular septal defect
atrioventricular defect

Cardiovascular Vascular:
patent ductus arteriosus

Skeletal Skull:
skull asymmetry

Head And Neck Nose:
anteverted nostrils

Genitourinary External Genitalia Male:
genital ambiguity

Skin Nails Hair Nails:
toenail hypoplasia

Head And Neck Neck:
short neck

Head And Neck Head:
microcephaly

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Face:
retrognathia
coarse facies
prominent alveolar ridge

Skeletal Hands:
brachydactyly
drumstick fingers

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 (Updated 20-May-2021)

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:

40
Tongue

Publications for Growth Retardation, Developmental Delay, and Facial Dysmorphism

Articles related to Growth Retardation, Developmental Delay, and Facial Dysmorphism:

# Title Authors PMID Year
1
Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay. 57 6
26378117 2016
2
Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations. 57 6
19559399 2009

Variations for Growth Retardation, Developmental Delay, and Facial Dysmorphism

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

6 (show top 50) (show all 117)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FTO NM_001080432.3(FTO):c.947G>A (p.Arg316Gln) SNV Pathogenic 1055 rs121918214 GRCh37: 16:53907749-53907749
GRCh38: 16:53873837-53873837
2 FTO NM_001080432.3(FTO):c.964C>T (p.Arg322Ter) SNV Pathogenic 1033656 GRCh37: 16:53907766-53907766
GRCh38: 16:53873854-53873854
3 FTO NM_001080432.3(FTO):c.956C>T (p.Ser319Phe) SNV Pathogenic 208336 rs781028867 GRCh37: 16:53907758-53907758
GRCh38: 16:53873846-53873846
4 FTO NM_001080432.3(FTO):c.767G>A (p.Ser256Asn) SNV Uncertain significance 714629 rs144743617 GRCh37: 16:53878082-53878082
GRCh38: 16:53844170-53844170
5 FTO NM_001363891.1(FTO):c.-122C>G SNV Uncertain significance 886780 GRCh37: 16:53737975-53737975
GRCh38: 16:53704063-53704063
6 FTO NM_001363891.1(FTO):c.-43G>A SNV Uncertain significance 886781 GRCh37: 16:53738054-53738054
GRCh38: 16:53704142-53704142
7 FTO NM_001080432.3(FTO):c.-6G>A SNV Uncertain significance 886782 GRCh37: 16:53738091-53738091
GRCh38: 16:53704179-53704179
8 FTO NM_001080432.3(FTO):c.754C>T (p.Pro252Ser) SNV Uncertain significance 1030089 GRCh37: 16:53878069-53878069
GRCh38: 16:53844157-53844157
9 FTO NM_001080432.3(FTO):c.*2366C>G SNV Uncertain significance 886974 GRCh37: 16:54148193-54148193
GRCh38: 16:54114281-54114281
10 FTO NM_001080432.3(FTO):c.142A>C (p.Lys48Gln) SNV Uncertain significance 888055 GRCh37: 16:53859794-53859794
GRCh38: 16:53825882-53825882
11 FTO NM_001080432.3(FTO):c.278C>G (p.Pro93Arg) SNV Uncertain significance 888056 GRCh37: 16:53859930-53859930
GRCh38: 16:53826018-53826018
12 FTO NM_001080432.3(FTO):c.428A>G (p.Asn143Ser) SNV Uncertain significance 888057 GRCh37: 16:53860080-53860080
GRCh38: 16:53826168-53826168
13 FTO NM_001080432.3(FTO):c.*125A>G SNV Uncertain significance 888117 GRCh37: 16:54145952-54145952
GRCh38: 16:54112040-54112040
14 FTO NM_001080432.3(FTO):c.*195A>T SNV Uncertain significance 888118 GRCh37: 16:54146022-54146022
GRCh38: 16:54112110-54112110
15 FTO NM_001080432.3(FTO):c.*281G>A SNV Uncertain significance 888119 GRCh37: 16:54146108-54146108
GRCh38: 16:54112196-54112196
16 FTO NM_001080432.3(FTO):c.*394A>T SNV Uncertain significance 888120 GRCh37: 16:54146221-54146221
GRCh38: 16:54112309-54112309
17 FTO NM_001080432.3(FTO):c.*1911dup Duplication Uncertain significance 319722 rs532852190 GRCh37: 16:54147723-54147724
GRCh38: 16:54113811-54113812
18 FTO NM_001080432.3(FTO):c.*1378C>A SNV Uncertain significance 886906 GRCh37: 16:54147205-54147205
GRCh38: 16:54113293-54113293
19 FTO NM_001080432.3(FTO):c.*1378C>G SNV Uncertain significance 886907 GRCh37: 16:54147205-54147205
GRCh38: 16:54113293-54113293
20 FTO NM_001080432.3(FTO):c.*1379C>T SNV Uncertain significance 886908 GRCh37: 16:54147206-54147206
GRCh38: 16:54113294-54113294
21 FTO NM_001080432.3(FTO):c.-4del Deletion Uncertain significance 319676 rs141907159 GRCh37: 16:53738093-53738093
GRCh38: 16:53704181-53704181
22 FTO NM_001363891.1(FTO):c.-186C>G SNV Uncertain significance 319674 rs527438785 GRCh37: 16:53737911-53737911
GRCh38: 16:53703999-53703999
23 FTO NM_001080432.3(FTO):c.45+8G>T SNV Uncertain significance 319678 rs886052101 GRCh37: 16:53738149-53738149
GRCh38: 16:53704237-53704237
24 FTO NM_001363891.1(FTO):c.-137G>C SNV Uncertain significance 319675 rs886052100 GRCh37: 16:53737960-53737960
GRCh38: 16:53704048-53704048
25 FTO NM_001363891.1(FTO):c.-210A>T SNV Uncertain significance 886777 GRCh37: 16:53737887-53737887
GRCh38: 16:53703975-53703975
26 FTO NM_001363891.1(FTO):c.-168C>G SNV Uncertain significance 886778 GRCh37: 16:53737929-53737929
GRCh38: 16:53704017-53704017
27 FTO NM_001080432.3(FTO):c.1119+25dup Duplication Uncertain significance 319687 rs373705985 GRCh37: 16:53913911-53913912
GRCh38: 16:53879999-53880000
28 FTO NM_001080432.3(FTO):c.*2333C>T SNV Uncertain significance 319733 rs769012175 GRCh37: 16:54148160-54148160
GRCh38: 16:54114248-54114248
29 FTO NM_001080432.3(FTO):c.1119+12_1119+15del Microsatellite Uncertain significance 319686 rs780243426 GRCh37: 16:53913907-53913910
GRCh38: 16:53879995-53879998
30 FTO NM_001080432.3(FTO):c.*1767del Deletion Uncertain significance 319718 rs886052115 GRCh37: 16:54147592-54147592
GRCh38: 16:54113680-54113680
31 FTO NM_001080432.3(FTO):c.*1896del Deletion Uncertain significance 319721 rs886052117 GRCh37: 16:54147723-54147723
GRCh38: 16:54113811-54113811
32 FTO NM_001080432.3(FTO):c.955del (p.Ser319fs) Deletion Uncertain significance 631751 rs1567384814 GRCh37: 16:53907756-53907756
GRCh38: 16:53873844-53873844
33 FTO NM_001080432.3(FTO):c.1384C>T (p.Arg462Ter) SNV Uncertain significance 632257 rs141983035 GRCh37: 16:54145693-54145693
GRCh38: 16:54111781-54111781
34 FTO NM_001080432.3(FTO):c.*1944G>T SNV Uncertain significance 319724 rs886052119 GRCh37: 16:54147771-54147771
GRCh38: 16:54113859-54113859
35 FTO NM_001080432.3(FTO):c.783T>A (p.His261Gln) SNV Uncertain significance 319684 rs886052103 GRCh37: 16:53878098-53878098
GRCh38: 16:53844186-53844186
36 FTO NM_001080432.3(FTO):c.*1061C>T SNV Uncertain significance 319704 rs886052110 GRCh37: 16:54146888-54146888
GRCh38: 16:54112976-54112976
37 FTO NM_001080432.3(FTO):c.*1195T>C SNV Uncertain significance 319707 rs550932475 GRCh37: 16:54147022-54147022
GRCh38: 16:54113110-54113110
38 FTO NM_001080432.3(FTO):c.1306A>C (p.Thr436Pro) SNV Uncertain significance 319690 rs886052107 GRCh37: 16:53967963-53967963
GRCh38: 16:53934051-53934051
39 FTO NM_001080432.3(FTO):c.*2401C>T SNV Uncertain significance 319736 rs886052121 GRCh37: 16:54148228-54148228
GRCh38: 16:54114316-54114316
40 FTO NM_001080432.3(FTO):c.*2039C>T SNV Uncertain significance 319725 rs552194412 GRCh37: 16:54147866-54147866
GRCh38: 16:54113954-54113954
41 FTO NM_001080432.3(FTO):c.*322T>C SNV Uncertain significance 319696 rs547454082 GRCh37: 16:54146149-54146149
GRCh38: 16:54112237-54112237
42 FTO NM_001080432.3(FTO):c.*1550C>A SNV Uncertain significance 319713 rs886052112 GRCh37: 16:54147377-54147377
GRCh38: 16:54113465-54113465
43 FTO NM_001080432.3(FTO):c.487G>A (p.Ala163Thr) SNV Uncertain significance 319682 rs145884431 GRCh37: 16:53860139-53860139
GRCh38: 16:53826227-53826227
44 FTO NM_001080432.3(FTO):c.*1829G>A SNV Uncertain significance 319719 rs886052116 GRCh37: 16:54147656-54147656
GRCh38: 16:54113744-54113744
45 FTO NM_001080432.3(FTO):c.*298C>T SNV Uncertain significance 319694 rs539881796 GRCh37: 16:54146125-54146125
GRCh38: 16:54112213-54112213
46 FTO NM_001080432.3(FTO):c.*361C>A SNV Uncertain significance 319697 rs886052108 GRCh37: 16:54146188-54146188
GRCh38: 16:54112276-54112276
47 FTO NM_001080432.3(FTO):c.*1592G>A SNV Uncertain significance 319714 rs886052113 GRCh37: 16:54147419-54147419
GRCh38: 16:54113507-54113507
48 FTO NM_001080432.3(FTO):c.*1745G>A SNV Uncertain significance 319717 rs534722966 GRCh37: 16:54147572-54147572
GRCh38: 16:54113660-54113660
49 FTO NM_001080432.3(FTO):c.959C>T (p.Thr320Ile) SNV Uncertain significance 319685 rs886052104 GRCh37: 16:53907761-53907761
GRCh38: 16:53873849-53873849
50 FTO NM_001080432.3(FTO):c.1179T>G (p.Thr393=) SNV Uncertain significance 319688 rs772642133 GRCh37: 16:53922803-53922803
GRCh38: 16:53888891-53888891

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

72
# 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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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