skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
MONDO:0014704Mondo
Findings
No curated finding names skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Downslanted palpebral fissuresHPOHP:0000494
- 2 of 2 reported patients
- Fragile skinHPOHP:0001030
- 2 of 2 reported patients
- Hyperextensible skinHPOHP:0000974
- 2 of 2 reported patients
- OvergrowthHPOHP:0001548
- 2 of 2 reported patients
- Prominent foreheadHPOHP:0011220
- 2 of 2 reported patients
- ProptosisHPOHP:0000520
- 2 of 2 reported patients
- ScoliosisHPOHP:0002650
- 2 of 2 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 2 of 2 reported patients
- Wide nasal bridgeHPOHP:0000431
- 2 of 2 reported patients
- AnxietyHPOHP:0000739
- 1 of 2 reported patients
- Auditory hallucinationHPOHP:0008765
- 1 of 2 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 1 of 2 reported patients
Show the remaining 7
- Intellectual disabilityHPOHP:0001249
- 1 of 2 reported patients
- MyofibromatosisHPOHP:0020135
- 1 of 2 reported patients
- Pointed chinHPOHP:0000307
- 1 of 2 reported patients
- PtosisHPOHP:0000508
- 1 of 2 reported patients
- Tall statureHPOHP:0000098
- 1 of 2 reported patients
- Thin skinHPOHP:0000963
- 1 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PDGFRBHGNC:8804
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2017
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
1 name
Resolves to: skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
- Also called
- Kosaki overgrowth syndrome