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Condition report · Dermatological

Ellis-van Creveld Syndrome

Rare inherited ciliopathies that affect bone growth together with the hair, teeth and nails. They can also involve the heart or kidneys.

A condition report looks for rare variants known to cause the conditions it covers.

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The 3 conditions we analyse

Ellis-van Creveld syndrome

Autosomal recessive

An EVC/EVC2 disorder with short limbs, extra fingers, small chest, nail and tooth abnormalities, and heart defects in over half of affected people.

What a diagnosis changes

A heart assessment is advised at diagnosis.

Genes analysed

Also known as

Chondroectodermal dysplasia; EVC; mesodermic dysplasia; Mesoectodermal dysplasia

Includes 1 related subtype ↓
  • Jeune syndrome situs inversus
MONDO:0009162OMIM 225500Orphanet 289MedGen 8584

Weyers acrofacial dysostosis

Autosomal dominant

A milder EVC/EVC2 condition with nail, tooth and finger differences.

Genes analysed

Also known as

acrofacial dysostosis of Weyers; curry Hall syndrome; wad; Weyers acrodental dysostosis

MONDO:0008673OMIM 193530Orphanet 952MedGen 141594

Cranioectodermal dysplasia

Autosomal recessive

A ciliopathy with skull shape changes, short limbs, sparse hair and dental anomalies, and a risk of progressive kidney disease.

What a diagnosis changes

Regular kidney and liver monitoring is advised.

Genes analysed

Also known as

CED; Sensenbrenner syndrome

Includes 7 related subtypes ↓
  • cranioectodermal dysplasia 1
  • cranioectodermal dysplasia 2
  • cranioectodermal dysplasia 3
  • cranioectodermal dysplasia 4
  • cranioectodermal dysplasia 5
  • cranioectodermal dysplasia 6
  • short-rib thoracic dysplasia 16 with or without polydactyly
MONDO:0009032Orphanet 1515MedGen 1641011

Limitations

  • Some EVC and EVC2 variants are larger deletions, which are detected through copy-number analysis.

Other dermatological conditions

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