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

MCID: GRW039 MIFTS: 23	Growth Retardation, Developmental Delay, and Facial Dysmorphism Categories: Genetic diseases, Fetal diseases, Rare diseases
Genes Variations Tissues Symptoms & Phenotypes Download 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 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:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

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: ⁵⁹

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 612938

Orphanet ⁵⁹ ORPHA210144

ICD10 via Orphanet ³⁴ Q87.8

UMLS via Orphanet ⁷⁴ C2752001

MedGen ⁴² C2752001

MeSH ⁴⁴ D000015

KEGG ³⁷ H00926

SNOMED-CT via HPO ⁶⁹ 258211005 204878001 25273001 more

UMLS ⁷³ C2752001

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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)

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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

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 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

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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:

⁴¹

Brain, Tongue

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Publications for Growth Retardation, Developmental Delay, and Facial Dysmorphism

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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	PubmedIds
1	FTO	FTO, Alpha-Ketoglutarate Dependent Dioxygenase	Protein Coding	1703.63	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	19559399 26378117

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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

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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

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