IllnessSchwartz-Jampel syndrome, differential diagnosis

Summary

Short information

2 core candidate and altogether 4 curated gene sequence analyses for the differential diagnosis according to the clinical suspicion Schwartz-Jampel syndrome

SP8866

Number of genes

4 Accredited laboratory test

Examined sequence length

16,5 kb (Core-/Core-canditate-Genes)
30,6 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
HSPG2	13176	142461	NM_005529.7	AR
LIFR	3294	151443	NM_002310.6	AR
MYH3	5823	160720	NM_002470.4	AD
PIEZO2	8259	613629	NM_022068.4	AD

Informations about the disease

Clinical Comment

Neuromuscular disease with permanent myotonia, mask-like facies (blepharospasm, narrow palpebral fissures, small mouth with pursed lips, puckered chin), chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, hip dysplasia)

Synonyms

Alias: Chondrodystrophic myotonia
Alias: Myotonic myopathy, dwarfism, chondrodystrophy, eye/face anomalies
Alias: SJA syndrome
Alias: Schwartz-Jampel-Aberfeld syndrome
Allelic: Dyssegmental dysplasia, Silverman-Handmaker type (HSPG2)
Arthrogryposis, distal, type 2A [Freeman-Sheldon syndrome] (MYH3)
Arthrogryposis, distal, type 2B3 [Sheldon-Hall] (MYH3)
Arthrogryposis, distal, type 3 (PIEZO2)
Arthrogryposis, distal, type 5 (PIEZO2)
Arthrogryposis, distal, with impaired proprioception + touch (PIEZO2)
Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A (MYH3)
Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B (MYH3)
Marden-Walker syndrome (PIEZO2)
Schwartz-Jampel syndrome, type 1 (HSPG2)
Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome (LIFR)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined