Phenotype #0000223484

Individual ID	00296017
Associated disease	AUKS
Diagnosis/Initial	Au-Kline syndrome
Diagnosis/Definite	-
Phenotype details	birth weight 50th%, length 10-50th%, head circumference 10-50th%; 13y weight 10th%, length >10th%, head circumference >50th%; ridged metopic suture, dolicocephaly sagittal and lambdoid craniosynostosis, long face; long downslanting palpebral fissures proptosis, ptosis broad lateral eyebrows; underdeveloped helices hearing loss (conductive and sensorineural); wide nasal ridge, hypoplastic alae nasi; open bite, downturned mouth, high palate, bifid uvula prominent midline groove of tongue missing molar; widely spaced nipples; 2 small ventricular septal defects; constipation in early childhood; cryptochordism; hip dysplasia, scoliosis extra lumbar vertebrae and multiple vertebral segmentation defects, elbow contractures; planovalgus feet, large hallux, crowded toes, decreased creases on feet; sacral dimple with coccygeal appendage, decreased sweating, intermittent facial rash; hypotonia, hyporeflexia, high pain tolerance; mild intellectual disability, walks independently, commnicates with many words, short phrases and uses signs and devices; normal brain syrinx T7-T9,T12, terminal lipomyelomeningocele
Inheritance	Isolated (sporadic)
Age/Examination	13y (13 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2020-04-02 14:56:11 +02:00 (CEST)
Date last edited	N/A