Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Periodontal Ehlers-Danlos syndrome

Periodontal Ehlers-Danlos syndrome is an autosomal dominant disorder caused by mutations of the C1R and C1S genes. It is characterized by early-onset periodontitis and teeth loss, joint hypermobility, and mild dermatological findings.

Symptoms

Periodontitis
In Ehlers-Danlos syndrome periodontitis is accompanied by typical joint and skin abnormalities.

Systematic

Inborn skeletal malformations
Al-Gazali-Bakalinova syndrome
Brachydactyly
Branchio-oculo-facial syndrome
Congenital contractural arachnodactyly
Ehlers-Danlos syndrome due to tenascin-X deficiency
Hydrolethalus 2
Lacrimoauriculodentodigital syndrome
Multiple synostoses syndrome
Multiple synostoses syndrome 3
Orofacial cleft 11
Orofaciodigital syndrome
Periodontal Ehlers-Danlos syndrome
C1R
C1S
Proximal symphalangism
Renal tubular acidosis with arthrogryposis
Simpson-Golabi-Behmel syndrome
Stapes ankylosis with broad thumbs and toes
Syndactyly type 5
Synpolydactyly type 1
Tarsal-carpal coalition syndrome
Tatton-Brown-Rahman syndrome
Townes-Brocks syndrome
Trigonocephaly 2
Van Maldergem syndrome 2

References:

1.

Kapferer-Seebacher I et al. (2016) Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.

[^]
2.

OMIM.ORG article

Omim 617174 [^]
Update: April 29, 2019