Phenotype #0000230268

Individual ID 00303184
Associated disease CDLS
Phenotype details brachycephaly; no low anterior hairline; skull asymmetry; arched eyebrows, synophrys, no long eyelashes, hypertelorism, telecanthus, no ptosis, no myopia, no lacrimal duct obstruction, no hooding of lids; depressed nasal bridge, anteverted nostrils, long philtrum, smooth philtrum, broad/bulbous nasal tip; thin upper lip, downturned corners mouth, high arched palate, no cleft palate, widely spaced teeth, gap between upper incisors, no micrognathia/no retrognathia; short neck; no cutis marmorata, no hirsutism, nevus flameus; small hands, proximally set thumbs, no clinodactyly 5th finger, short 5th finger, no single transverse palmar crease; small feet, no syndactyly toes; no restriction elbow movements; leg length difference, asymmetric coxa vara abnormal femoral epiphyses,; no caridac defects, PFO, spontaneous closure at 2y; genitourinary defect, dysplatic kidneys; no gastroesophageal reflux; feeding problems in infancy ; no hearing loss; MRI brain delayed myelination of temporal – parietal region; gait apraxia; severe intellectual disability; friendly, able to focus, hyperactive, bruxism; 9y-no speech; delayed motor development; understanding and spacial perception much better than verbal; birth 38w, birth weight 2360g (SD -1,3), length 46cm (SD -1,5), OFC 34cm (SD 0,5); weight 14kg (Z -3,5), height 102.5cm (Z -2,9), OFC 49cm (SD -0,8); no obesity
Diagnosis/Initial Cornelia De Lange Syndrome
Inheritance Unknown
Diagnosis/Definite CDLS5
Age/Examination 6y4m (6 years, 4 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2020-06-08 09:10:42 +02:00 (CEST)
Date last edited N/A

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