MCID: HYD053
MIFTS: 21

Hydrocephalus with Associated Malformations

Categories: Fetal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Hydrocephalus with Associated Malformations

MalaCards integrated aliases for Hydrocephalus with Associated Malformations:

Name: Hydrocephalus with Associated Malformations 57 19
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome 58 75
Game Friedman Paradice Syndrome 19 71
Retarded Growth, Hydrocephalus, Micrognathia, Intestinal Malrotation, Omphalocele, Short Lower Limbs and Foot Deformities 19
Game-Friedman-Paradice Syndrome 58

Characteristics:


Inheritance:

Autosomal recessive 57

Prevelance:

Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome: Antenatal 58

Age Of Death:

Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome: stillbirth 58

Classifications:

Orphanet: 58  
Rare respiratory diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 236640
ICD10 via Orphanet 32 Q87.8
UMLS via Orphanet 72 C1856052
Orphanet 58 ORPHA3035
MedGen 40 C1856052
UMLS 71 C1856052

Summaries for Hydrocephalus with Associated Malformations

GARD: 19 Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.

MalaCards based summary: Hydrocephalus with Associated Malformations, also known as growth delay-hydrocephaly-lung hypoplasia syndrome, is related to hydrocephalus and congenital hydrocephalus. Affiliated tissues include lung and brain, and related phenotypes are aqueductal stenosis and intrauterine growth retardation

Orphanet: 58 Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 sibs so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.

Wikipedia: 75 Growth delay-hydrocephaly-lung hypoplasia syndrome, also known as Game-Friedman-Paradice syndrome is a... more...

More information from OMIM: 236640

Related Diseases for Hydrocephalus with Associated Malformations

Diseases related to Hydrocephalus with Associated Malformations via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 hydrocephalus 10.3
2 congenital hydrocephalus 10.3

Symptoms & Phenotypes for Hydrocephalus with Associated Malformations

Human phenotypes related to Hydrocephalus with Associated Malformations:

58 30 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aqueductal stenosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002410
2 intrauterine growth retardation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001511
3 micrognathia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000347
4 intestinal malrotation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002566
5 omphalocele 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001539
6 pulmonary hypoplasia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002089
7 radial bowing 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002986
8 lower limb undergrowth 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009816
9 cerebral calcification 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002514
10 splenomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001744
11 upslanted palpebral fissure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000582
12 abnormally ossified vertebrae 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100569
13 tibial bowing 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002982
14 abnormality of fibula morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002991
15 abnormal rib morphology 30 Occasional (7.5%) HP:0000772
16 hydrocephalus 30 HP:0000238
17 bowing of the long bones 58 Very frequent (99-80%)
18 abnormality of the ribs 58 Occasional (29-5%)
19 abnormality of the lower limb 58 Very frequent (99-80%)
20 short lower limbs 30 HP:0006385
21 abnormal foot morphology 30 HP:0001760

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
H E E N T:
hydrocephalus
micrognathia
patent aqueduct of sylvius

Abdomen:
omphalocele

Growth:
prenatal growth retardation

G I:
intestinal malrotation

Skel:
foot deformities
short legs
bowed tibias

Pulmonary:
hypoplastic multilobed lungs

Clinical features from OMIM®:

236640 (Updated 24-Oct-2022)

Drugs & Therapeutics for Hydrocephalus with Associated Malformations

Search Clinical Trials, NIH Clinical Center for Hydrocephalus with Associated Malformations

Genetic Tests for Hydrocephalus with Associated Malformations

Anatomical Context for Hydrocephalus with Associated Malformations

Organs/tissues related to Hydrocephalus with Associated Malformations:

MalaCards : Lung, Brain

Publications for Hydrocephalus with Associated Malformations

Articles related to Hydrocephalus with Associated Malformations:

# Title Authors PMID Year
1
Fetal growth retardation, hydrocephalus, hypoplastic multilobed lungs, and other anomalies in 4 sibs. 57
2764038 1989
2
A case of congenital syndromic hydrocephalus: a subtype of 'game-friedman-paradice syndrome'. 62
23386950 2013
3
Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others. 62
17638618 2007

Variations for Hydrocephalus with Associated Malformations

Expression for Hydrocephalus with Associated Malformations

Search GEO for disease gene expression data for Hydrocephalus with Associated Malformations.

Pathways for Hydrocephalus with Associated Malformations

GO Terms for Hydrocephalus with Associated Malformations

Sources for Hydrocephalus with Associated Malformations

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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