atelosteogenesis type II
Findings
No curated finding names atelosteogenesis type II yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A lethal perinatal bone dysplasia characterized by limb shortening, normal sized skull with cleft palate, hitchhiker thumbs, distinctive facial dysmorphism and radiographic skeletal features, caused by mutations in the diastrophic dysplasia sulfate transporter gene.
Definition from the Mondo Disease Ontology (MONDO:0009727), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Stillbirth
HPO, annotations 2026-09-02
Features
64 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.
- Hitchhiker thumbHPOHP:0001234
- 11 of 11 reported patients
- Frequent (30% to 79% of cases)
- Increased intervertebral spaceHPOHP:0030320
- 1 of 1 reported patient
- Limb undergrowthHPOHP:0009826
- Congenital onset
- Very frequent (80% to 99% of cases)
- Abnormal facial shapeHPOHP:0001999
- Frequent (30% to 79% of cases)
- Bell-shaped thoraxHPOHP:0001591
- Frequent (30% to 79% of cases)
- Bilateral talipes equinovarusHPOHP:0001776
- Frequent (30% to 79% of cases)
Show the remaining 52
- Equinovarus deformityHPOHP:0008110
- Frequent (30% to 79% of cases)
- Genu valgumHPOHP:0002857
- Frequent (30% to 79% of cases)
- Increased femoral anteversionHPOHP:0012427
- Frequent (30% to 79% of cases)
- Laryngeal cartilage malformationHPOHP:0008752
- Frequent (30% to 79% of cases)
- Laryngeal stenosisHPOHP:0001602
- Frequent (30% to 79% of cases)
- Metatarsus adductusHPOHP:0001840
- 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.
- SLC26A2HGNC:10994
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: atelosteogenesis type II
- Also called
- AO2AOIIatelosteogenesis type 2neonatal osseous dysplasia type 1