Phenotype #0000227560

Individual ID	00300259
Associated disease	CED
Phenotype details	scaphocephaly; sagittal suture synostosis; frontal bossing; no macrocephaly; telecanthus; everted lower lip; micrognathia; hypoplastic teeth; widely spaced teeth; short broad nails; sparse hair, fine hair; skin laxity; dry skin; narrow thorax; no pectus excavatum; bowing of humeri; brachydactyly; webbing of fingers; bilateral postaxial polydactyly feet, bilateral postaxial polydactyly hands; no restricted flexion of fingers; syndactyly of 2-3 and 5-6 toes; bilateral sandal gap; joint laxity; nephronophthisis, 3y-end-stage renal disease; neonatal cholestasis, liver cirrhosi; peripheral pulmonary stenosis; no neurological findings; no recurrent lung infections; normal intelligence; height 91 cm (<<-2.5 SD)
Diagnosis/Initial	Sensenbrenner syndrome
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	CED3
Age/Examination	05y (5 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-04-25 19:00:12 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD