EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2

General Information (adopted from Orphanet):

Synonyms, Signs: EDSMC2
Number of Symptoms 23
OrphanetNr:
OMIM Id: 615539
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000592) Blue sclerae 85 / 7739
2
(HPO:0001655) Patent foramen ovale 31 / 7739
3
(HPO:0003324) Generalized muscle weakness 48 / 7739
4
(HPO:0002194) Delayed gross motor development 37 / 7739
5
(HPO:0001181) Adducted thumb 31 / 7739
6
(HPO:0001166) Arachnodactyly 62 / 7739
7
(HPO:0001762) Talipes equinovarus 309 / 7739
8
(HPO:0001776) Bilateral talipes equinovarus 8 / 7739
9
(HPO:0000248) Brachycephaly 222 / 7739
10
(HPO:0002007) Frontal bossing 366 / 7739
11
(HPO:0000023) Inguinal hernia 181 / 7739
12
(HPO:0000494) Downslanted palpebral fissures 328 / 7739
13
(HPO:0000218) High palate 356 / 7739
14
(HPO:0000678) Dental crowding 65 / 7739
15
(HPO:0000506) Telecanthus 156 / 7739
16
(HPO:0000411) Protruding ear 140 / 7739
17
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
(OMIM) Atrophic scarring 9 / 7739
19
(OMIM) Cerebral atrophy, generalized mild 1 / 7739
20
(OMIM) Delayed wound healing 5 / 7739
21
(OMIM) Joint hyperlaxity 5 / 7739
22
(OMIM) Open anterior fontanel 2 / 7739
23
(OMIM) Tent-shaped lips 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The musculocontractural type of Ehlers-Danlos syndrome is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring ...
Clinical Description OMIM Muller et al. (2013) studied a 2-year-old Indian boy, born of first-cousin parents, who exhibited facial dysmorphism consisting of frontal bossing, open anterior fontanel, downward-slanting palpebral fissures, telecanthus, bluish sclerae, high-arched palate, tent-shaped lips, dental crowding, brachycephaly, and ...
Molecular genetics OMIM In a 2-year-old Indian boy with the musculocontractural type of Ehlers-Danlos syndrome, who was negative for mutation in the CHST14 gene (608429), Muller et al. (2013) performed high-density SNP array genotyping, which revealed 25 homozygous regions exceeding 4 ...