Ehlers-danlos syndrome, spondylodysplastic type, 2

Preferred Label : Ehlers-danlos syndrome, spondylodysplastic type, 2;

Symbol : EDSSPD2;

CISMeF acronym : EDSP2; EDSSPD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : EDSP2; Ehlers-danlos syndrome, progeroid type, 2;

Description : The features of the progeroid form of Ehlers-Danlos syndrome include an aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin (Okajima et al., 1999). For a discussion of genetic heterogeneity of EDSP, see EDSP1 (130070).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the UDP-Gal:beta-Gal beta-1,3-galactosyltransferase polypeptide 6 gene (B3GALT6, 615291.0007);

Prefixed ID : #615349;

Details

Origin ID

615349;

UMLS CUI

C3809210;

Currated CISMeF NLP mapping
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome [ORDO Disease]
- Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome spondylodysplastic type 2 [DO Concept]
DO Cross reference
- Ehlers-Danlos syndrome spondylodysplastic type 2 [DO Concept]
Genes related to phenotype
- Beta-1,3-galactosyltransferase 6 [OMIM gene]
HPO term(s)
- Advanced ossification of carpal bones [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blue sclerae [HPO term]
- Carpal synostosis [HPO term]
- Cleft palate [HPO term]
- Cutis laxa [HPO term]
- Decreased body weight [HPO term]
- Epiphyseal dysplasia [HPO term]
- Flared metaphysis [HPO term]
- Flat face [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hip dislocation [HPO term]
- Hyperextensible skin [HPO term]
- Hypotonia [HPO term]
- Joint laxity [HPO term]
- Kyphoscoliosis [HPO term]
- Long upper lip [HPO term]
- Pectus excavatum [HPO term]
- Platyspondyly [HPO term]
- Prominent forehead [HPO term]
- Proptosis [HPO term]
- Sparse hair [HPO term]
- Talipes equinovarus [HPO term]
ORDO concept(s)
- B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome [ORDO Disease]
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome [ORDO Disease]
See also inter- (CISMeF)
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (disorder) [SNOMED CT concept]

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