cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
Findings
No curated finding names cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia 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
- Congenital onset
HPO, annotations 2026-09-02
Features
89 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.
- BrachydactylyHPOHP:0001156
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Coarse facial featuresHPOHP:0000280
- 3 of 3 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient · Male
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- ObesityHPOHP:0001513
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Patent ductus arteriosusHPOHP:0001643
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- SynophrysHPOHP:0000664
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Thick eyebrowHPOHP:0000574
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
- Abnormal skeletal morphologyHPOHP:0011842
- Very frequent (80% to 99% of cases)
- Abnormality of the respiratory systemHPOHP:0002086
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- 1 of 3 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 77
- Highly arched eyebrowHPOHP:0002553
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Long eyelashesHPOHP:0000527
- 1 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Gastroesophageal refluxHPOHP:0002020
- 2 of 3 reported patients
- Frequent (30% to 79% of cases)
- LaryngomalaciaHPOHP:0001601
- 2 of 3 reported patients
- Occasional (5% to 29% of cases)
- Round faceHPOHP:0000311
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.
- AFF4HGNC:17869
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Illumina · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
- Also called
- CHOPS syndrome