Phenotype #0000230262

Individual ID	00303178
Associated disease	CDLS
Phenotype details	severe; died-10m; brachycephaly; low anterior hairline; large anterior and posterior fontanelles; arched eyebrows, no synophrys, long eyelashes, no hypertelorism, telecanthus, ptosis, no myopia, no lacrimal duct obstruction, no hooding of lids; depressed nasal bridge, anteverted nostrils, long philtrum, no smooth philtrum, no broad/no bulbous nasal tip; thin upper lip, downturned corners mouth, high arched palate, no cleft palate, micrognathia/retrognathia; short neck; no cutis marmorata, hirsutism, no nevus flameus; small hands, adducted proximally set thumbs , no clinodactyly 5th finger, no short 5th finger, single transverse palmar crease; small feet, no syndactyly toes; no restriction elbow movements; brachydactyly, mild bowing of femora; Tetralogy of Fallot; genitourinary defect, bilateral renal cysts; bilateral undescended testes; mild hypospadias; gastroesophageal reflux; feeding problems infancy, NGT feeds; hearing loss, severe to profound SNHL bilat; no anomalies CNS; no seizures ; intellectual disability; birth 27w, birth weight 759g (SD -1,9), length 34.5cm (SD -1,1), OFC 22cm (SD -2,8); weight 5.3kg (Z -3,7), height 54.5cm (Z -6,6), OFC 35cm (SD -6,6);
Diagnosis/Initial	Cornelia De Lange Syndrome
Inheritance	Unknown
Diagnosis/Definite	CDLS5
Age/Examination	6m
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