Phenotype #0000230261

Individual ID	00303177
Associated disease	CDLS
Phenotype details	severe; brachycephaly; low anterior hairline; arched eyebrows, synophrys, no long eyelashes, no hypertelorism, no telecanthus, no ptosis, myopia (-5.0 OD), no hooding of lids, upslanted palpebral fissures; no depressed nasal bridge, anteverted nostrils, long philtrum, no smooth philtrum, broad/bulbous nasal tip; thin upper lip, downturned corners mouth, high arched palate, widely spaced teeth, gap between upper incisors, fused incisor, micrognathia/retrognathia; low set ears; cutis marmorata, nevus flameus; small hands; small feet; atypical patellae; bilateral mild talipes equinovarus; no caridac defects, PFO; genitourinary defect, mild hydronephrosis, unilateral cryptorchidism; gastroesophageal reflux; feeding problems in infancy ; malrotation of colon; celiac disease; MRI brain cortical atrophy, non-obstructive hydrocephalus; severe intellectual disability; severe speeh delay; delayed motor development, rolled-5y; birth (40)w, birth weight 2900g (SD -0,5), length 48cm (SD -1), OFC 33.5cm (SD -0,5); weight 10.9kg (Z -6,5), height 99cm (Z -3,2), OFC 47.5cm (SD -2,3); no obesity
Diagnosis/Initial	Cornelia De Lange Syndrome
Inheritance	Unknown
Diagnosis/Definite	CDLS5
Age/Examination	6y (6 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-06-08 09:10:42 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD