Ellis-van Creveld syndrome

Synonyms
Chondroectodermal dysplasia
Mesoectodermal dysplasia
OrphaNet reference
Ellis Van Creveld syndrome 
May Cause
Abnormal fibula
Absent fibula
Accessory carpal or tarsal bones
Acromelic dwarfism
Advanced bone age in a newborn
Alopecia
Ambiguous genitalia
Anodontia or hypodontia
Atrial septal defect
Bowed bones
Bowed femur
Bowed tubular bones
Brachydactyly
Broad middle phalanges
Capitate-hamate fusion
Carpal and/or tarsal fusion
Carpal fusion
Chest malformation
Cleft lip/palate
Cleft tongue
Common atrium
Cone-shaped epiphysis
Congenital abdominal calcifications
Congenital elbow anomaly
Congenital foot deformity
Congenital heart disease
Congenital hypodontia
Congenital narrow spinal canal
Congenital short hands and feet
Congenital short limbs
Congenital tracheal stenosis x
Congenitally abnormal pelvis
Congenitally limited joint mobility
Defective dentition
Defective pubic ossification
Delayed dentition
Delayed ossification of the pubic bone
Delayed tooth eruption
Dental defect
Dumbbell bones
Early femoral head ossification
Ectodermal dysplasia
Exostosis
Flat femoral head
Fragmented femoral head
Gallstone
Genital anomaly
Genu valgum
Genu varum
Hypoplastic fibula
Hypoplastic terminal phalanges
Hypospadias or ambiguous external genitalia
Increased carpal angle
Increased nuchal fold
Malformed patella
Medullary nephrocalcinosis
Mesomelic dwarfism
Mesomelic limb shortness
Metaphyseal cupping
Multiple abnormal epiphyses
Nail aplasia
Nail deformity
Nail dystrophy
Nail hypoplasia
Natal teeth
Nephropathy
Nuchal cystic hygroma
Pancreatic dysplasia
Polydactyly
Postaxial polydactyly
Pubic bone nonossification
Retarded skeletal maturation
Retinopathy
Round vertebrae
Short fibula
Short foot
Short hand
Short narrow thoracic cage
Short ribs
Short squat bones
Small acetabular angle
Small sciatic notch
Strabismus
Syndactyly
Taurodontism
Thin and small distal phalanges of the hand
Thoracic dysplasia
Tongue abnormality
Trident pelvis
Type A pelvis
Ventricular septal defect
Wide metaphysis

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