Phenotype #0000230278

Individual ID 00303194
Associated disease CDLS
Phenotype details severe; brachycephaly; low anterior hairline; large fontanelle at birth,open at 4y; mildly arched eyebrows, synophrys, no long eyelashes, hypertelorism, telecanthus, no ptosis, hooding of lids; depressed nasal bridge, anteverted nostrils, long philtrum, no smooth philtrum, broad/bulbous nasal tip; no thin upper lip, downturned corners mouth, widely spaced teeth, gap between upper incisors, mild micrognathia/retrognathia ; nasal regurgitation; , hirsutism, no nevus flameus; small hands, no clinodactyly 5th finger, no single transverse palmar crease; small feet, syndactyly toes; no restriction elbow movements; osteopenia, bunions; caridac defect, pulmonic stenosis; genitourinary defect, posterior urethral valves, cryptorchidism, renal dysplasia, with chronic disease; severe gastroesophageal reflux with fundoplication and GT; feeding problems infancy, dumping syndrome; hearing loss, hearing loss with bilateral Mondini malformations; tubes; MRI brain history CNS bleed, periventriular leukomalacia, thin corpus callosum, small pituitary; delayed speech; delayed motor development, not walking-10y; laryngotracheomalacia, mother IQ70, also with 1.4Mb 17q12 dup (Dad being tested at Athena); birth 35w, birth weight 1360g (SD -2), length 38.1cm (SD -4); weight 12.7kg (Z -2,3), height 90.8cm (Z -2,7), OFC 46.8cm (SD -2,1); no obesity
Diagnosis/Initial Cornelia De Lange Syndrome
Inheritance Unknown
Diagnosis/Definite CDLS5
Age/Examination 4y (4 years)
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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