IllnessStiff-skin syndrome, differential diagnosis

Summary

Short information

Curated single gene sequence analysis according to the clinical suspicion of Stiff-skin syndrome including two genes for differential diagnostics concerning Geleophysic dysplasia

SP0870

Number of genes

3 Accredited laboratory test

Examined sequence length

8,7 kb (Core-/Core-canditate-Genes)
15,4 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Sanger

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
FBN1	8616	134797	NM_000138.5	AD
ADAMTSL2	2856	612277	NM_014694.4	AR
LTBP3	3912	602090	NM_001130144.3	AD, AR

Informations about the disease

Clinical Comment

Slowly progressive with hard skin bound firmly to underlying tissues (mainly shoulders, lower back, buttocks, thighs), mild hypertrichosis, hyperpigmentation overlying affected areas of skin, limited large joint mobility with flexion contractures. Cutaneous nodules, affecting distal interphalangeal joints, extracutaneous manifestations, including diffuse entrapment neuropathy, scoliosis, tiptoe gait, narrow thorax, restrictive pulmonary changes, muscle weakness, short stature/growth delay; no vascular hyperreactivity, immunologic abnormalities nor visceral, muscular or bone involvement

Synonyms

Sympt.: Hard, thick skin, usually entire body; less joint mobility, flexion contractures
Allelic: Acromicric dysplasia (FBN1)
Allelic: Dental anomalies + short stature (LTBP3)
Allelic: Ectopia lentis, familial (FBN1)
Allelic: Geleophysic dysplasia 2 (FBN1)
Allelic: MASS syndrome (FBN1)
Allelic: Marfan lipodystrophy syndrome (FBN1)
Allelic: Marfan syndrome (FBN1)
Allelic: Weill-Marchesani syndrome 2, AD (FBN1)
Geleophysic dysplasia 1 (ADAMTSL2)
Geleophysic dysplasia 3 (LTBP3)
Stiff skin syndrome (FBN1)

Heredity, heredity patterns etc.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined