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Ehlers-Danlos syndrome, spondylodysplastic type, 2(EDSSPD2)

MedGen UID:
815540
Concept ID:
C3809210
Disease or Syndrome
Synonyms: EDSSPD2; Ehlers-Danlos syndrome, progeroid type, 2
SNOMED CT: Beta-1,3-galactosyltransferase 6-related spondylodysplastic Ehlers-Danlos syndrome (1251499005); B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (1251499005); Ehlers-Danlos syndrome progeroid type 2 (1251499005)
Modes of inheritance:
 
B3GALT6 (1p36.33)
 
Monarch Initiative: MONDO:0014139
OMIM®: 615349
Orphanet: ORPHA536467

Definition

The features of Ehlers-Danlos syndrome spondylodysplastic type 2 (EDSSPD2) 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 the spondylodysplastic type of Ehlers-Danlos syndrome, see 130070. [from OMIM]

Clinical features

From HPO

Recent clinical studies

Etiology

Basalom S, Rauch F
Curr Osteoporos Rep 2020 Apr;18(2):95-102. doi: 10.1007/s11914-020-00568-5. PMID: 32162201
Ritelli M, Cinquina V, Giacopuzzi E, Venturini M, Chiarelli N, Colombi M
Genes (Basel) 2019 Aug 21;10(9) doi: 10.3390/genes10090631. PMID: 31438591Free PMC Article

Diagnosis

Basalom S, Rauch F
Curr Osteoporos Rep 2020 Apr;18(2):95-102. doi: 10.1007/s11914-020-00568-5. PMID: 32162201

Clinical prediction guides

Basalom S, Rauch F
Curr Osteoporos Rep 2020 Apr;18(2):95-102. doi: 10.1007/s11914-020-00568-5. PMID: 32162201

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