Total 51 clinical symptoms reported for Ellis-van Creveld syndrome
Abnormal fingernail morphology |
An abnormality of the fingernails.
Synonyms:Abnormal fingernails; Abnormality of the fingernails |
Very frequent |
Abnormal hair morphology |
An abnormality of the hair.
Synonyms:Abnormality of the hair; Hair abnormality |
Very frequent |
Abnormal heart valve morphology |
Any structural abnormality of a cardiac valve.
Synonyms:Abnormality of the heart valves; Valvular abnormality |
Very frequent |
Abnormal oral mucosa morphology |
Abnormality of the oral mucosa.
Synonyms:Abnormality of lining of mouth; Abnormality of mucosa of mouth; Abnormality of oral mucosa; Abnormality of oral mucous membrane |
Very frequent |
Abnormality of cardiovascular system morphology |
Any structural anomaly of the heart and great vessels.
Synonyms:Cardiovascular malformations |
Very frequent |
Abnormality of the dentition |
Any abnormality of the teeth.
Synonyms:Abnormal dentition; Abnormal teeth; Dental abnormalities; Dental abnormality; Dental anomalies |
Very frequent |
Abnormality of the nail |
Abnormality of the nail.
Synonyms:Abnormality of the nail |
Very frequent |
Atrioventricular canal defect |
A defect of the atrioventricular septum of the heart.
Synonyms:Atrioventricular septal defect; Endocardial cushion defect |
Very frequent |
Failure to thrive |
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Synonyms:Faltering weight; Postnatal failure to thrive; Weight faltering |
Very frequent |
Foot polydactyly |
A kind of polydactyly characterized by the presence of a supernumerary toe or toes.
Synonyms:Duplication of bones of the toes; Polydactyly of feet; Polydactyly of the foot |
Very frequent |
Genu valgum |
The legs angle inward, such that the knees are close together and the ankles far apart.
Synonyms:Genu valga; Genu valgus; Genua valga; Knee joint valgus deformity; Knock knees |
Very frequent |
Hand polydactyly |
A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.
Synonyms:Extra finger; Finger polydactyly; Polydactyly of the hand; Supernumerary finger |
Very frequent |
Hypoplastic toenails |
Underdevelopment of the toenail.
Synonyms:Underdeveloped toenails |
Very frequent |
Micromelia |
The presence of abnormally small extremities.
Synonyms:Smaller or shorter than typical limbs |
Very frequent |
Nail dysplasia |
The presence of developmental dysplasia of the nail.
Synonyms:Atypical nail growth; Dysplastic nails; Onychodysplasia |
Very frequent |
Narrow chest |
Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder.
Synonyms:Low chest circumference; Narrow chest; Narrow shoulders; Narrow thorax; Reduced anterior-posterior chest diameter |
Very frequent |
Neonatal short-limb short stature |
A type of short-limbed dwarfism that is manifest beginning in the neonatal period.
Synonyms:Dwarfism, neonatal short-limbed; Neonatal short-limbed dwarfism; Short limb dwarfism recognizable at birth; Short-limb dwarfism identifiable at birth; Short-limb dwarfism identifiable neonatally; Short-limbed dwarfism identifiable at birth |
Very frequent |
Short distal phalanx of finger |
Short distance from the end of the finger to the most distal interphalangeal crease or the distal interphalangeal joint flexion point. That is, hypoplasia of one or more of the distal phalanx of finger.
Synonyms:Brachytelophalangy; Distal phalangeal hypoplasia; Hypoplasia of the distal phalanges; Hypoplasia of the distal phalanges of the hand; Hypoplasic terminal phalanges; Hypoplastic distal phalanges; Hypoplastic terminal phalanges; Short distal phalanges; Short outermost finger bone; Terminal phalangeal hypoplasia of hand |
Very frequent |
Short thorax |
Reduced inferior to superior extent of the thorax.
Synonyms:Shorter than typical length between neck and abdomen |
Very frequent |