microcephalic osteodysplastic dysplasia, Saul-Wilson type
Findings
No curated finding names microcephalic osteodysplastic dysplasia, Saul-Wilson type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has material basis in heterozygous mutation in COG4 on chromosome 16q22.1.
Definition from the Mondo Disease Ontology (MONDO:0019407), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
47 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.
- Cone-shaped epiphyses of the phalanges of the handHPOHP:0010230
- 12 of 12 reported patients
- Very frequent (80% to 99% of cases)
- Coxa valgaHPOHP:0002673
- 13 of 13 reported patients
- Enlarged epiphysesHPOHP:0010580
- 13 of 13 reported patients
- Flared metaphysisHPOHP:0003015
- 13 of 13 reported patients
- Hypoplasia of the odontoid processHPOHP:0003311
- 13 of 13 reported patients
- Very frequent (80% to 99% of cases)
- Overtubulated long bonesHPOHP:0006391
- 13 of 13 reported patients
Show the remaining 35
- Wide anterior fontanelHPOHP:0000260
- 12 of 12 reported patients
- ProptosisHPOHP:0000520
- 13 of 14 reported patients
- Very frequent (80% to 99% of cases)
- Metacarpal pseudoepiphysisHPOHP:0009193
- 11 of 12 reported patients
- MicrognathiaHPOHP:0000347
- 12 of 14 reported patients
- Motor delayHPOHP:0001270
- 12 of 14 reported patients
- Short distal phalanx of fingerHPOHP:0009882
- 12 of 14 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.
- COG4HGNC:18620
- Definitive · ClinGen · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2023
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: microcephalic osteodysplastic dysplasia, Saul-Wilson type
- Also called
- microcephalic osteodysplastic dysplasiaSaul-Wilson syndromeSWILS