SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE (SCE-EDS)

Question 1

What is  SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE (SCE-EDS)?

Accepted Answer

very rare
autosomal recessive
mutation in the zinc transporter gene SLC39A13

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Ehlers-Danlos-Syndrom, spondylo-cheiro dysplastische Form

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 612350

Question 4

Which enzymes are involved?

Accepted Answer

Zinc transporter ZIP13

Disease	SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE (SCE-EDS)
OMIM	612350 OMIM = Online Mendelian Inheritance of Men
Orphanet	157965
Protein (UniProt)	Zinc transporter ZIP13
Gene locus	11p11.2
ICD	Q79.6
Summary	very rare autosomal recessive mutation in the zinc transporter gene SLC39A13
Laboratory findings	crosslinks lysyl pyridinoline (LP)/hydroxylysyl pyridinoline (HP) inc (urine)
Symptoms	bifid uvula growth retardation, poor growth joint hypermobilty, dislocations, laxity low birthweight (small for gestational age) muscle atrophy osteopenia sclerae, blue or bluish short stature skeletal changes, skeletal abnormalities skin, abnormal Teeth: delayed eruption or noneruption Teeth: generalized defect or abnormalities finger anomalies onset, infancy onset, neonatal skin hyperelasticity