geroderma osteodysplastica
Findings
No curated finding names geroderma osteodysplastica yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Geroderma osteodysplastica (GO) is characterized by lax and wrinkled skin (especially on the dorsum of the hands and feet and abdomen), progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit.
Definition from the Mondo Disease Ontology (MONDO:0009271), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
52 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.
- Hyperextensibility of the finger jointsHPOHP:0001187
- 8 of 8 reported patients
- Hypoplasia of the maxillaHPOHP:0000327
- 8 of 8 reported patients
- Neonatal wrinkled skin of hands and feetHPOHP:0007414
- 8 of 8 reported patients
- OsteopeniaHPOHP:0000938
- 4 of 4 reported patients
- Premature skin wrinklingHPOHP:0100678
- 8 of 8 reported patients · Congenital onset
- Intellectual disabilityHPOHP:0001249
- 7 of 8 reported patients
- Recurrent fractures
Show the remaining 40
- Joint hypermobilityHPOHP:0001382
- Very frequent (80% to 99% of cases)
- OsteoporosisHPOHP:0000939
- Very frequent (80% to 99% of cases)
- Redundant skinHPOHP:0001582
- Very frequent (80% to 99% of cases)
- Severe short statureHPOHP:0003510
- Very frequent (80% to 99% of cases)
- Thin skinHPOHP:0000963
- Very frequent (80% to 99% of cases)
- Vertebral compression fractureHPOHP:0002953
- Very frequent (80% to 99% of cases)
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.
- GORABHGNC:25676
- Definitive · ClinGen · Autosomal recessive · 2025
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- PYCR1HGNC:9721
- Supportive · Orphanet · Autosomal recessive · 2021