Growth Retardation, Developmental Delay, and Facial Dysmorphism disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

GDFD MCID: GRW039 MIFTS: 27	Growth Retardation, Developmental Delay, and Facial Dysmorphism (GDFD) Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁸

Developmental anomalies during embryogenesis

External Ids:

OMIM® ⁵⁷ 612938

KEGG ³⁶ H00926

MeSH ⁴⁴ D000015

ICD10 via Orphanet ³³ Q87.8

UMLS via Orphanet ⁷¹ C2752001

Orphanet ⁵⁸ ORPHA210144

MedGen ⁴¹ C2752001

UMLS ⁷⁰ C2752001

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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.

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

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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 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

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

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

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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

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

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

⁴⁰

Tongue

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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	Daoud H...Armour CM	26378117	2016
2	Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations. ⁵⁷ ⁶	Boissel S...Colleaux L	19559399	2009

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Genes for Growth Retardation, Developmental Delay, and Facial Dysmorphism

Genes related to Growth Retardation, Developmental Delay, and Facial Dysmorphism (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FTO	FTO Alpha-Ketoglutarate Dependent Dioxygenase	Protein Coding	1667.73	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁸ Causative variation ⁷² Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	19559399

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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

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Expression for Growth Retardation, Developmental Delay, and Facial Dysmorphism

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

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Pathways for Growth Retardation, Developmental Delay, and Facial Dysmorphism

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

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Sources for Growth Retardation, Developmental Delay, and Facial Dysmorphism

¹ BioSystems

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³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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⁸ Cochrane Library

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¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

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¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

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⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

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

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

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

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Growth Retardation, Developmental Delay, and Facial Dysmorphism

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:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

Drugs & Therapeutics 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:

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

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

Publications for Growth Retardation, Developmental Delay, and Facial Dysmorphism

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

Genes for Growth Retardation, Developmental Delay, and Facial Dysmorphism

Genes related to Growth Retardation, Developmental Delay, and Facial Dysmorphism (1 elite genes):

Variations for Growth Retardation, Developmental Delay, and Facial Dysmorphism

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

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

Expression 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