Phenotype #0000269270

Individual ID	00374061
Associated disease	?
Diagnosis/Initial	telangiectasia, ectodermal dysplasia, brachydactyly, congenital heart disease
Diagnosis/Definite	-
Phenotype details	interauricular communication (ostium secundum) 7y-spontaneous closure, pulmonary stenosis, mild tricuspid insufficiency; depressed nasal bridge, protruding tongue; hypotrichosis, sparse eyebrows; dental abnormalities; black spots in deciduous teeh, absence of several pieces of permanent teeth; no global developmental delay; no motor delay; no intellectual disability; no behavioral/psychiatric manifestations; no seizures; no microcephaly; normal vision, scleral telangiectasia; chronic median otitis, no hypoacusia; arteriovenous fistula in the lingula; nephrocalcinosis; medullary sponge kidney; short thumbs, brachydactyly, shortened metacarpal bones (esp 3rd finger).No X ray from hands available, first toes short and laterally bended. Recurrent patellar luxation left knee, chronic venous insufficiency left limb; generalized teleangiectasia; sternal deformity with marked angulation of the median third of the sternal body and prominence of the third arch bilaterally; scoliosis, right convexity; maxillary and mandibular atrophy; joint hypermobility; autoimmune thyroiditis (TSH 7.17; antiperoxidase Abs >1300,00); persistent hypocalcemia and hypomagnesemia; hypercalciuria and hypocitraturia; low vitamin D 18 (VN 30-100), elevated PTHi 73 (VN 12-65); inonized calcium 1.08 mmol/L (VN 1.15-1.29)
Inheritance	Isolated (sporadic)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-05-22 22:23:56 +02:00 (CEST)
Date last edited	N/A