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Ellis-van Creveld syndrome |
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Synonyms |
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Chondroectodermal dysplasia |
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Clinical |
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Manifest at birth by short stature with progressive
distal limb shortening, post-axial polydactyly mostly affecting hands,
small / deep set nails, dental abnormalities, distinctive multiple oral
frenulae and synechiae, freuent heart defects (septal defects, single
atrium) and pulmonary insufficiency with narrow chest.
Adult height is severely reduced.
Dandy-Walker malformation has been reported. Possibly significant polydactyly
in heterozygotes. |
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Differential Diagnosis |
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Differentitated from Jeune asphyxiating thoracic
dysplasia by polydactyly, ectodermal and cardiac defects, multiple oral
frenulae, slanting proximal tibial metaphyses, fused carpal bones and
absence of renal disease. The radiological appearance of the pelvis is
usually indistinguishable from asphyxiating thoracic dysplasia. |
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Radiology |
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Postaxial polydactyly, brachydactyly, fused carpal bones, mesomelic shortness
long bones, thick / bowed femora / humeri, slanting proximal tibial metaphyses,
short iliac notches, triradiate acetubulae, genu valgum. |
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Traits |
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Autosomal Recessive
Chromosome 4
Arm p
Death in infancy / childhood
Small for gestational age (IUGR)
Short stature - prenatal / intrauterine dwarfism
Short stature - postnatal
Short limbs
Short limbs - predominantly mesomelic / acromelic
Fine hair
Sparse / absent scalp hair - generalised
Absent / small nails
Thin / hyperconvex / hypoplastic nails
Large fontanelle
Short philtrum
Tooth crown shape abnormality
Microdontia
Delayed eruption of teeth
Premature loss of teeth
Small hand
Brachydactyly
Polydactyly - preaxial (radial) / postaxial (ulnar)
Terminal hypoplasia fingers
Talipes
Hydrocephalus / dilated cerebral ventricles
Dandy-Walker malformation
Mental retardation - borderline / mid
Hypoplastic lungs
Shunt VSD / ASD / PDA
Cyanotic / complex heart disease |
Other cardiovascular defect
Agenesis / hypoplasia of kidneys
Hypospadias / epispadias
Undescended / ectopic testes
Uterine / vaginal abnormality
Delayed skeletal maturation
Wide metaphyses
Convex (club-shaped) metaphyses
Short ribs (circumferential)
Short sacrosciatic notches
Short / small ilia
Acetabular spurs / triradiate acetabulum
Irregular shape of pubic and ischial bones
Other carpal bone anomalies
Absent / small / short phalanges
Cone shaped epiphyses
Knock knees - genu valgum
Other abnormal patella
Tibiae absent
Extra carpal bones
Fused carpal bones
Progressive distalward shortening of phalanges
Cone-shaped epiphyses of proximal phalanges
Cone-shaped epiphyses of middle phalanges
All middle phalanges short / deformed
Cone-shaped epiphyses hypoplastic / very short
Focal matrix abnormality in reserve zone
Other hypertrophic zone abnormalities
Elongation of tongues of hypertrophic cartilage |
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