Phenotype #0000231962

Individual ID	00306119
Associated disease	CS
Diagnosis/Initial	Cockayne syndrome
Diagnosis/Definite	-
Phenotype details	prenatal microcephaly; born 41w, weight 2.9 kg, OFC 9th percentile first few months, OFC 1y-<2nd percentile; first year developed normally; 5y-multiple unusual plantar warts hands and forearms, unusual freckling hands and back of neck, tended to burn easily and quickly, no bad blisterering when exposed to sunlight; 7y-deep-set eyes, progressive scoliosis, multiple contractures feet, required lengthening Achilles tendon because of muscle cramps in hamstrings and calves; skin deeply pigmented, rashes, flat freckles; moderate bilateral hearing impairment, especially higher tones (<3y-normal hearing), short stature (height 110.4 cm [<2nd percentile], weight of 16.3 kg [<3rd percentile]), microcephaly (OFC 45.5 cm [<2nd percentile]), circulatory problems, bilateral astigmatism, no cataracts, attention deficit hyperactivity disorder, learning disability; MRI brain 3y-some delayed myelination, 7y-basal ganglia T1 shortening; severe migraines and headaches, ambulation lessened over time, gastrostomy-jejunostomy tube for feeding
Inheritance	Familial, autosomal recessive
Age/Examination	16y (16 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-07-08 14:45:32 +02:00 (CEST)
Date last edited	N/A