Greenberg dysplasia
Findings
No curated finding names Greenberg dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.
Definition from the Mondo Disease Ontology (MONDO:0008974), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal death · Stillbirth · Fetal onset · Antenatal onset
HPO, annotations 2026-09-02
Features
82 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.
- 11 pairs of ribsHPOHP:0000878
- 2 of 2 reported patients
- Anterior rib punctate calcificationsHPOHP:0006619
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Aplasia of distal finger phalanxHPOHP:0009881
- 1 of 1 reported patient
- Barrel-shaped chestHPOHP:0001552
- 2 of 2 reported patients
- Cartilaginous ossification of larynxHPOHP:0008747
- 1 of 1 reported patient
- Costal cartilage calcificationHPOHP:0006646
- 1 of 1 reported patient
Show the remaining 70
- Nonimmune hydrops fetalisHPOHP:0001790
- 2 of 2 reported patients
- Prominent supraorbital ridgesHPOHP:0000336
- 1 of 1 reported patient
- Recurrent fracturesHPOHP:0002757
- 1 of 1 reported patient
- RetrognathiaHPOHP:0000278
- 1 of 1 reported patient
- RhizomeliaHPOHP:0008905
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Severe short-limb dwarfismHPOHP:0008890
- 1 of 1 reported patient
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.
- LBRHGNC:6518
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Moderate · ClinGen · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: Greenberg dysplasia
- Also called
- hem dysplasiahydrops-ectopic calcification-motheaten syndromeskeletal dysplasia, Greenberg type