Phenotype #0000230266

Individual ID	00303182
Associated disease	CDLS
Phenotype details	moderate; brachycephaly; low anterior hairline; large fontanelle (6.5x3.5cm @ birth); arched eyebrows, synophrys, no long eyelashes, hypertelorism, telecanthus, no ptosis, no lacrimal duct obstruction, hooding of lids, downslanted eyes; depressed nasal bridge, anteverted nostrils, long philtrum, smooth philtrum, broad/bulbous nasal tip; thin upper lip, downturned corners mouth, cleft palate, bifid uvula, widely spaced teeth, no gap between upper incisors, small teeth, no micrognathia/no retrognathia; small ears, Small mouth; no cutis marmorata, hirsutism, nevus flameus forehead and philtrum; small hands, proximally set thumbs, no clinodactyly 5th finger, short 5th finger, no single transverse palmar crease; small feet, syndactyly toes; no restriction elbow movements; short metacarpals 4-5, short metatarsals 3-5, pes planus; no caridac defects; gastroesophageal reflux; feeding problems in infancy ; intermittent esophageal obstruction; no anomalies CNS; no seizures ; apneic episodes; intellectual disability, IQ 40-50; temper outbursts, sexual advances toward peers; birth 38w, birth weight 2600g (SD -0,5); weight 93kg (Z 2,9), height 150cm (Z -0,2), OFC 53.75cm (SD 1); obesity developed mid childhood
Diagnosis/Initial	Cornelia De Lange Syndrome
Inheritance	Unknown
Diagnosis/Definite	CDLS5
Age/Examination	12y (12 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