Phenotype #0000230275

Individual ID 00303191
Associated disease CDLS
Phenotype details mild; no brachycephaly; low anterior hairline; microcephaly; arched eyebrows, synophrys, long eyelashes, hypertelorism, telecanthus, no ptosis, astigmatism, lacrimal duct obstruction, no hooding of lids; no depressed nasal bridge, anteverted nostrils, no long philtrum, smooth philtrum, broad/bulbous nasal tip; no thin upper lip, downturned corners mouth, no high arched palate, cleft palate, widely spaced teeth, micrognathia/retrognathia; short neck; mild asymmetry; no cutis marmorata, hirsutism, nevus flameus, mosaic pigmentation; 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; prominent fingertip pads, prominent heels, short 5th fingers, small 3rd toe right foot, small 4th toe on left; no caridac defects, PDA resolved; genitourinary defect, Minimal left-sided pelviectasis, hypoplastic genitalia; gastroesophageal reflux; feeding problems in infancy ; no hearing loss; no anomalies CNS; no seizures ; moderate intellectual disability; friendly; first words @20 mo, 2 word phrases @6y, counts 1-10, writes name, no reading @6.5y; sat-8-10m,walk-3.5y; birth 37.5w, birth weight 1956g (SD -2), length 41.5cm (SD -3), OFC 30cm (SD -3); weight 17.3kg (Z -1,6), height 104.9cm (Z -2,7); no obesity
Diagnosis/Initial Cornelia De Lange Syndrome
Inheritance Unknown
Diagnosis/Definite CDLS5
Age/Examination 6y6m (6 years, 6 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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