Schneckenbecken dysplasia

Definicija

Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.

Search

Pun naziv

Schneckenbecken dysplasia

Kratki naziv

-

Sinonimi

SLC35D1-CDG_x000D_Chondrodysplasia with snail-like pelvis

Orpha broj

Kategorija

Podkategorija

Naziv na stranom jeziku

-

Prevalenca

NULL

Nasleđivanje

Autosomal recessive

Period početka bolesti

-

ICD 10

OMIM

UMLS

GARD

MEDDRA

Tekstualni opis
The typical radiographic finding is the snail-like configuration of the hypoplastic iliac bone. Additional features include flattened hypoplastic vertebral bodies, short ribs, short and wide fibulae, short and broad long bones with a dumbbell-like appearance, and precocious ossification of the tarsus.
Etiologija
This syndrome is caused by loss-of-function mutations of the SLC35D1 gene (1p32-p31)
Prognoza
bolest_prognoza
Diferencijalna dijagnoza
-
Tretman
-
Dijagnostičke metode
-
Antenatalna dijagnoza
-
Epidemiologija
Less than 20 cases have been reported in the literature so far.
Genetsko savetovanje
Schneckenbecken dysplasia is transmitted in an autosomal recessive manner.
Terapija
-
Klinička istraživanja
-