Shprintzen-Goldberg syndrome
Findings
No curated finding names Shprintzen-Goldberg syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability.
Definition from the Mondo Disease Ontology (MONDO:0008426), read 2026-09-29. CC BY 4.0.
Features
62 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.
- ArachnodactylyHPOHP:0001166
- 34 of 37 reported patients
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- 33 of 37 reported patients
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- 32 of 37 reported patients
- Very frequent (80% to 99% of cases)
- Posteriorly rotated earsHPOHP:0000358
- 32 of 37 reported patients
- Very frequent (80% to 99% of cases)
- High palateHPOHP:0000218
- 30 of 37 reported patients
- DolichocephalyHPOHP:0000268
- 28 of 37 reported patients
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Very frequent (80% to 99% of cases)
- High, narrow palateHPOHP:0002705
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- 26 of 37 reported patients
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Pes planusHPOHP:0001763
- Very frequent (80% to 99% of cases)
Show the remaining 50
- ProptosisHPOHP:0000520
- 29 of 37 reported patients
- Very frequent (80% to 99% of cases)
- RetrognathiaHPOHP:0000278
- Very frequent (80% to 99% of cases)
- TelecanthusHPOHP:0000506
- Very frequent (80% to 99% of cases)
- CamptodactylyHPOHP:0012385
- 24 of 37 reported patients
- Abnormal aortic valve morphologyHPOHP:0001646
- Frequent (30% to 79% of cases)
- Camptodactyly of fingerHPOHP:0100490
Genes
2 genes
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.
- SKIHGNC:10896
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · ClinGen · Autosomal dominant · 2024
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- FBN1HGNC:3603
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
- Disputed Evidence · ClinGen · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: Shprintzen-Goldberg syndrome
- Also called
- Marfanoid craniosynostosis syndromeSGSShprintzen Goldberg Syndrome