Table 4.

Skeletal Ciliopathies of Interest in the Differential Diagnosis of Ellis-van Creveld Syndrome

GenesDisorderSkeletal ManifestationsExtraskeletal ManifestationsComments
CEP120
CFAP410
DYNC2H1
DYNC2I1 (WDR60)
DYNC2I2 (WDR34)
DYNC2LI1
DYNLT2B (TCTEX1D2)
GRK2
IFT122
IFT140
IFT172
IFT43
IFT52
IFT80
IFT81
KIAA0586
KIAA0753
TRAF3IP1
TTC21B
WDR19
WDR35		Short-rib thoracic dysplasia (SRTD) (formerly asphyxiating thoracic dysplasia, or Jeune syndrome) 1, 2
  • Thoracic hypoplasia (wide spectrum of severity ranging from mild form to lethal condition)
  • Handlebar clavicles
  • Short trident pelvis/ilia
  • Short tubular bones
  • Brachydactyly
  • Cone-shaped epiphyses
  • Postaxial polydactyly (uncommon)
  • Retinal degeneration
  • Pulmonary hypoplasia
  • Cystic disease (liver, pancreas, kidney)
  • Kidney failure
  • Liver failure
  • Respiratory impairment (due to thoracic anomalies) is much more common & severe in SRTD than in EVC syndrome, being the hallmark of SRTD.
  • Kidney & liver are also commonly affected in SRTD.
  • Polydactyly is uncommon in SRTD.
DYNC2I1 (WDR60)
DYNC2I2 (WDR34)
DYNC2LI1
IFT122
IFT80
IFT81
INTU
NEK1
TRAF3IP1
WDR19		Short-rib polydactyly syndrome (SRPS) 1, 3
  • Severe thoracic hypoplasia
  • Polydactyly (axis variable)
  • Bulbous end of long bones
  • Bowed radii & ulnae
  • Tibial hypoplasia
  • Hydropic appearance
  • Lingual hamartomas
  • Bifid tongue
  • Malformations (heart, lung, epiglottis, kidney, pancreas, genitalia)
  • Imperforate anus
  • Holoprosencephaly
  • SRPS is typically much more severe than EVC syndrome, w/high rate of perinatal mortality.
  • Multiple malformations are common in SRPS.
  • Polydactyly is variable in SRPS.
EVC
EVC2 		Weyers acrofacial (acrodental) dysostosis (WAD) 1, 4
  • Postaxial polydactyly
  • Mild short stature
  • Short hands w/mild brachydactyly
  • Nail dystrophy
  • Dental anomalies (conical teeth, hypodontia, delayed eruption)
  • Multiple frenula
  • WAD is considered a mild form of EVC syndrome (less prominent skeletal features).
  • Postaxial polydactyly of feet is more common in WAD than in EVC syndrome.
IFT122
IFT40
IFT43
WDR19
WDR35 		Cranioectodermal dysplasia (CED) (Levin-Sensenbrenner) 1, 5
  • Craniosynostosis
  • Narrow thorax
  • Short proximal bones
  • Severe brachydactyly
  • Postaxial polydactyly (uncommon)
  • Ectodermal dysplasia
  • Characteristic facial features w/frontal bossing & low-set ears
  • Loose skin & joint laxity
  • Progressive kidney failure
  • Hepatic disease
  • Retinal dystrophy
  • Unlike EVC syndrome, CED is assoc w/craniosynostosis, kidney failure, hepatic disease, & retinal dystrophy.
  • Polydactyly is uncommon in CED.
IFT140
IFT172
WDR19 		Mainzer-Saldino syndrome (MZSDS) 1, 6
  • Craniosynostosis
  • Short stature
  • Cone-shaped epiphyses of phalanges
  • Femoral dysplasia (small & flattened epiphyses, short neck)
  • Microcephaly
  • Dental anomalies
  • Nystagmus
  • Retinal pigmentary dystrophy
  • Progressive kidney failure
  • Hepatic disease (uncommon)
  • MZSDS is assoc w/a less pronounced skeletal phenotype.
  • Retinal dystrophy is invariably present in MZSDS.
  • Kidney failure & malformation are also very common in MZSDS.

EVC = Ellis-van Creveld; MZSDS = Mainzer-Saldino syndrome; SRPS = short-rib polydactyly syndrome; CED = cranioectodermal dysplasia; SRTD = short-rib thoracic dysplasia; WAD = Weyers acrofacial (acrodental) dysostosis

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From: Ellis-van Creveld Syndrome

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