Phenotype #0000187377

Individual ID	00248372
Associated disease	NDD
Diagnosis/Initial	Cornelia de Lange syndrome
Diagnosis/Definite	CHOPS
Phenotype details	see paper; ..., Synophrys, upturned nose, long philtrum, thick arched eyebrows, long eyelashes, large anterior fontanelle, microcephaly, microbrachycephaly, Wormian bones on her skull; birth weight 2,381 g (−1.94 SD), head circumference 31.1 cm (−2.3 SD); latest weight 32.9 kg (−3.7 SD), height 118.1 cm (−6.9 SD), head circumferance 53 cm (25th centile) 14y; PDA, chronic right‐sided heart failure, pulmonary hypertension; Chronic lung disease of uncertain etiology (status post ARDS) and low oxygen saturations, sleep apnea, asthma, history of aspiration and pneumonia; No hearing loss; Brachydactyly, small hands with proximally placed thumbs, abnormal shape of vertebral bodies with decreased height most pronounced from T8 to L1; Horseshoe kidney with repeated episodes of acute kidney injury, chronic kidney disease, diuretic‐associated metabolic alkalosis and hypokalemia; Vomiting and dehydration with delayed gastric emptying, constipation, Candida esophagitis, GERD; Coarse hair
Inheritance	Isolated (sporadic)
Age/Examination	20y (20 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2019-07-22 21:52:28 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD