Phenotype #0000337368
| Individual ID |
00448154 |
| Associated disease |
NDD |
| Diagnosis/Initial |
neurodevelopmental disorder |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., birth 38w induced vaginal; mixed conductive and SNHL (bilateral hearing aids); eustachian tube dysfunction; myopia, dry eye syndrome, blurry vision; developmental motor delay; 15m-walk; fine motor difficulties; developmental delay language; articulation problems; Autistic features; ADHD; increased sensitivity to sound and loud noises and certain textures, does not like being touched, anxiety disorder, depression; obstructive sleep apnea (CPAP); 10y-neuropsychology evaluation general intellectual abilities were average (IQ=100), relative weaknesses in visuo-motor coordination and executive functioning skills related to planning and decision-making; no special education; no congenital anomalies; cardiac echo normal, borderline prolonged QT; normal renal ultrasound; MRI brain normal; cyclic vomiting, gastroparesis, irritable bowel syndrome, GERD, constipation, recurrent rectal prolapse; post-operative hypothyroidism (s/p total thyroidectomy); 15y-parathyroid adenoma after neck mass removed, histology consistent with a parathyroid adenoma; no sarcoma; no uterine myoma; low risk papillary thyroid microcarcinoma, non-metastatic, in the context of thyroidectomy with thyroiditis (remnant ablation when pt was 13 yo). Hepatic adenoma; no hypotonia; no seizures; dysmorphic features; prominent ears, simple outer helix with unusual skin creases (appear similar to cutis aplasia); relatively long palpebral fissures, down slanting, hooded eyelids , possible hypertelorism; nose prominent tip, long columella; asymmetric face; long philtrum, thin upper vermillion; macrocephaly; hiatal hernia, umbilical and epigastric hernias (3.5m-repaired); chronic pain disorder related to EDS and joint dislocations, Beighton score=6/9; hemangioma of subcutaneous tissue, recurrent lymphatic malformation excision from his left axilla, nevus excision from his scalp, and confirmed lymphatic malformation from right palm, several skin tags, 3 atypical cafe au lait spots, dermoid leion on scalp; idiopathic intracranial hypertension, migraine headache, tremor, pots (chronic dizziness, chronic fatigue and weakness), chronic hoarseness, mild-moderate obstructive breathing pattern, proteinuria, likely has intermittent anemia of inflammation |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
18y4m (18 years, 4 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2024-02-21 16:36:37 +01:00 (CET) |
| Date last edited |
N/A |
|
Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
|
