MCID: ART056
MIFTS: 20

Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay

Categories: Fetal diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and...

MalaCards integrated aliases for Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay:

Name: Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay 56 52
Contractures Ectodermal Dysplasia Cleft Lip Palate 52 71
Ladda Zonana Ramer Syndrome 52 71
Congenital Contractures, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Impairment 52
Contractures-Ectodermal Dysplasia-Cleft Lip/palate Syndrome 58
Ladda-Zonana-Ramer Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
contractures-ectodermal dysplasia-cleft lip/palate syndrome
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
x-linked


HPO:

31
arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay:
Inheritance x-linked inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 301815
MESH via Orphanet 44 C535465 C538135
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1844935 C2931745
Orphanet 58 ORPHA1484
MedGen 41 C1844935
UMLS 71 C1844935 C2931745

Summaries for Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and...

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1484 Definition Contractures - ectodermal dysplasia - cleft lip /palate is an ectodermal dyplasia syndrome characterized by severe arthrogryposis, multiple ectodermal dysplasia features, cleft lip/palate, facial dysmorphism, growth deficiency and a moderate delay of psychomotor development. Ectodermal dysplasia manifestations include sparse, brittle and hypopigmented hair, xerosis, multiple nevi, small conical shaped teeth and hypodontia, and facial dysmorphism with blepharophimosis, deep-set eyes and micrognathia . Visit the Orphanet disease page for more resources.

MalaCards based summary : Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay, also known as contractures ectodermal dysplasia cleft lip palate, is related to ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive and ectodermal dysplasia. Affiliated tissues include eye and skin, and related phenotypes are global developmental delay and cognitive impairment

More information from OMIM: 301815

Related Diseases for Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and...

Diseases related to Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.4
2 ectodermal dysplasia 10.4
3 cleft lip 10.4
4 congenital contractures 10.4
5 cleft lip/palate 10.4

Graphical network of the top 20 diseases related to Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay:



Diseases related to Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay

Symptoms & Phenotypes for Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and...

Human phenotypes related to Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
3 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
4 hypohidrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000966
5 lacrimation abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0000632
6 arthrogryposis multiplex congenita 58 31 hallmark (90%) Very frequent (99-80%) HP:0002804
7 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376
8 non-midline cleft lip 58 31 hallmark (90%) Very frequent (99-80%) HP:0100335
9 growth delay 31 HP:0001510
10 oral cleft 31 HP:0000202
11 congenital contracture 31 HP:0002803
12 ectodermal dysplasia 31 HP:0000968
13 psychomotor retardation 31 HP:0025356

Symptoms via clinical synopsis from OMIM:

56
Skin:
ectodermal dysplasia

Growth:
growth retardation

Lab:
normal chromosomes

Neuro:
psychomotor retardation

Mouth:
cleft lip/palate

Joints:
severe congenital contractures

Clinical features from OMIM:

301815

Drugs & Therapeutics for Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and...

Search Clinical Trials , NIH Clinical Center for Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay

Genetic Tests for Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and...

Anatomical Context for Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and...

MalaCards organs/tissues related to Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay:

40
Eye, Skin

Publications for Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and...

Articles related to Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay:

# Title Authors PMID Year
1
Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: a distinct syndrome. 56 61
7504881 1993

Variations for Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and...

Expression for Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and...

Search GEO for disease gene expression data for Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and Developmental Delay.

Pathways for Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and...

GO Terms for Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and...

Sources for Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/palate, and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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