X-linked chondrodysplasia punctata 2
Findings
No curated finding names X-linked chondrodysplasia punctata 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.
Definition from the Mondo Disease Ontology (MONDO:0020603), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
HPO, annotations 2026-09-02
Features
56 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.
- Patchy alopeciaHPOHP:0002232
- 7 of 8 reported patients
- Occasional (5% to 29% of cases)
- Abnormality of the skinHPOHP:0000951
- Very frequent (80% to 99% of cases)
- Epiphyseal stipplingHPOHP:0010655
- 5 of 8 reported patients
- Very frequent (80% to 99% of cases)
- CataractHPOHP:0000518
- 6 of 8 reported patients
- Frequent (30% to 79% of cases)
- ErythrodermaHPOHP:0001019
- 6 of 8 reported patients
- Frequent (30% to 79% of cases)
- RhizomeliaHPOHP:0008905
- 5 of 8 reported patients
Show the remaining 44
- Facial asymmetryHPOHP:0000324
- Frequent (30% to 79% of cases)
- Frontal bossingHPOHP:0002007
- Frequent (30% to 79% of cases)
- IchthyosisHPOHP:0008064
- Frequent (30% to 79% of cases)
- Lower limb asymmetryHPOHP:0100559
- Frequent (30% to 79% of cases)
- Scaling skinHPOHP:0040189
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
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.
- EBPHGNC:3133
- Definitive · Illumina · X-linked · 2019
- Definitive · G2P · X-linked · 2023
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
15 names
Resolves to: X-linked chondrodysplasia punctata 2
- Also called
- CDPX2CDPXDchondrodysplasia punctata 2 X-linked dominantchondrodysplasia punctata 2, X-linked dominantchondrodysplasia punctata caused by mutation in EBPchondrodysplasia punctata, X-linked dominant, X-linked dominantConrad Hunermann Happle syndromeConradi Hunermann syndromeConradi Hünermann SyndromeConradi-Hunermann syndromeConradi-Hunermann-Happle syndromeConradi-Hünermann-Happle syndromeEBP chondrodysplasia punctataHapple syndromeX-linked chondrodysplasia punctata type 2