X-linked chondrodysplasia punctata 1
Findings
No curated finding names X-linked chondrodysplasia punctata 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizomelic chondrodysplasia punctata, a primary bone dysplasia, characterized by hypoplasia of the distal phalanges of the fingers, nasal hypoplasia, epiphyseal stippling appearing in the first year of life, and mild and nonrhizomelic shortness of the long bones.
Definition from the Mondo Disease Ontology (MONDO:0010555), read 2026-09-29. CC BY 4.0.
Features
55 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.
- Abnormal circulating enzyme concentration or activityHPOHP:0012379
- Very frequent (80% to 99% of cases)
- Hypoplasia of the maxillaHPOHP:0000327
- Very frequent (80% to 99% of cases)
- Short distal phalanx of fingerHPOHP:0009882
- Very frequent (80% to 99% of cases)
- Short noseHPOHP:0003196
- Very frequent (80% to 99% of cases)
- Abnormality of the vertebral columnHPOHP:0000925
- Frequent (30% to 79% of cases)
- Broad nasal tipHPOHP:0000455
- Frequent (30% to 79% of cases)
Reported absent (1)
- Increased nuchal translucencyHPOHP:0010880
Show the remaining 43
- Punctate vertebral calcificationsHPOHP:0008420
- Frequent (30% to 79% of cases)
- Short columellaHPOHP:0002000
- Frequent (30% to 79% of cases)
- Short distal phalanx of toeHPOHP:0001857
- Frequent (30% to 79% of cases)
- Abnormal bronchus morphologyHPOHP:0025426
- Occasional (5% to 29% of cases)
- Abnormal hyoid bone morphologyHPOHP:3000052
- Occasional (5% to 29% of cases)
- Abnormal ossification involving the femoral head and neckHPOHP:0009107
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.
- ARSLHGNC:719
- Definitive · ClinGen · X-linked · 2023
- Definitive · G2P · X-linked · 2023
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: X-linked chondrodysplasia punctata 1
- Also called
- ARSE X-linked chondrodysplasia punctatabrachytelephalangic chondrodysplasia punctatachondrodysplasia punctata, X-linked recessive, X-linked recessiveX-linked chondrodysplasia punctata caused by mutation in ARSE