Phenotype #0000232835

Individual ID	00307010
Associated disease	EVC
Phenotype details	Single atrium with partial AVCD, and persistent left superior vena cava draining into the left atrium. Bilateral postaxial polydactyly of hands (operated at 4 years) and feet. X-ray showed clinodactyly of the 5th finger, postaxial polydactyly of toes, proximal fusion between 3rd and 4th, and 5th and 6th toes and metatarsal bones at left. Nails showed no abnormalities. Oral anomalies included agenesis of both upper lateral incisors and lower central incisor bilaterally, and multiple frenula between the upper lip and gingiva.
Diagnosis/Initial	Ellis van Creveld Syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Ellis van Creveld Syndrome
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Francesca Piceci Sparascio
Database submission license	No license selected
Created by	Francesca Piceci Sparascio
Date created	2020-07-27 11:23:54 +02:00 (CEST)
Date last edited	2020-07-31 12:12:34 +02:00 (CEST)

Global Variome shared LOVD