Phenotype #0000158766
| Individual ID |
00210200 |
| Associated disease |
? |
| Diagnosis/Initial |
specific facial gestalt, intellectual disability, feeding problems, impaired growth |
| Diagnosis/Definite |
- |
| Phenotype details |
frontal and temporal sparse scalp hair (HP:0002209); nolong face (-HP:0000276); malar flattening (HP:0000272); wide anterior fontanel (HP:0000260); frontal bossing (HP:0002007); periorbital fullness (HP:0000629); satyr ears (HP:0030676); low-set ears (HP:0000369); hypoplasia external ear (HP:0008772); narrow palpebral fissures (HP:0045025); no downslanted palpebral fissures (-HP:0000494); anteverted nares; narrow mouth (HP:0000160); downturned corners mouth (HP:0002714); no mandibular prognathia (HP:0000303); thin upper lip (HP:0000219); abnormal dentition (HP:0000164) , malocclusion, 12 teeth removed for crowding; Smooth philtrum; Small hands, right single palmar crease, prominent inter-phalangeal joints; Small feet, metatarsus adductus, planovalgus feet, large great toes, over-riding fourth toes; Vertebral hypoplasia (HP:0008417) , truncated sacrum with flexion deformity at S4, three sacral segments identified. Tall vertebrae.; Abnormal thoracic spine (HP:0100711) , mild scoliosis with thoracic kyphosis; Slender bones, coxa valga; ASD; no genitourinary defects; feeding difficulties in infancy (HP:0008872); no gastroesophageal reflux (-HP:0002020); severe constipation (HP:0002019) , overflow incontinence; conductive hearing impairment (HP:0000405) (also mild sensori-neural impairment); Six haemangiomas in infancy. Cloudy corneas as infant, resolved. Growth hormone treatment from age 7y.; mild/moderate intellectual disability; Mild delay speech; walk-3y, normal coordination; Anxiety requiring medication. Autistic behaviours; Obstructive sleep apnoea (from 10y); no seizures; central muscular hypotonia (HP:0001252); hypertonia (HP:0001276) (peripheral); Abnormal tone as infant largely resolved.; Bilateral, patchy areas of abnormal white matter; bilateral, subtle perisylvian polymicrogyria; no polyhydramnios (-HP:0001561); intrauterine growth retardation (HP:0001511); birth gestational age 37+3; birth weight 1652 g (<0.4th), birth weight 2900 g (~9th), 11y-weight 29.1 kg(~5th), height 129.2 cm (~1st), head circumference 57.7 cm (~97th) |
| Inheritance |
Isolated (sporadic) |
| Age/Examination |
12y (12 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2018-12-27 16:19:42 +01:00 (CET) |
| Date last edited |
N/A |
|
