asphyxiating thoracic dystrophy 3
Findings
No curated finding names asphyxiating thoracic dystrophy 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22.
Definition from the Mondo Disease Ontology (MONDO:0013127), read 2026-09-29. CC BY 4.0.
Features
47 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.
- Abdominal distentionHPOHP:0003270
- Very frequent (80% to 99% of cases)
- Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- Abnormal pelvis bone ossificationHPOHP:0009106
- Very frequent (80% to 99% of cases)
- Disproportionate short-limb short statureHPOHP:0008873
- Very frequent (80% to 99% of cases)
- Lethal skeletal dysplasiaHPOHP:0005716
- Very frequent (80% to 99% of cases)
- MicromeliaHPOHP:0002983
- Very frequent (80% to 99% of cases)
- Narrow chestHPOHP:0000774
- Very frequent (80% to 99% of cases)
- Respiratory insufficiencyHPOHP:0002093
- Very frequent (80% to 99% of cases)
- Short footHPOHP:0001773
- Very frequent (80% to 99% of cases)
- Short palmHPOHP:0004279
- Very frequent (80% to 99% of cases)
- Short ribsHPOHP:0000773
- Very frequent (80% to 99% of cases)
- Short thoraxHPOHP:0010306
- Very frequent (80% to 99% of cases)
Show the remaining 35
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Frequent (30% to 79% of cases)
- Absent or minimally ossified vertebral bodiesHPOHP:0004599
- Frequent (30% to 79% of cases)
- Ambiguous genitaliaHPOHP:0000062
- Frequent (30% to 79% of cases)
- Cleft upper lipHPOHP:0000204
- Frequent (30% to 79% of cases)
- Congenital hepatic fibrosisHPOHP:0002612
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
Genes
5 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.
- DYNC2H1HGNC:2962
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
- DYNC2I1HGNC:21862
- Supportive · Orphanet · Autosomal recessive · 2021
- DYNC2I2HGNC:28296
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
22 names
Resolves to: asphyxiating thoracic dystrophy 3
- Also called
- asphyxiating thoracic dystrophy type 3ATD3DYNC2H1-related short rib thoracic dysplasiapolydactyly with neonatal chondrodystrophy type 1polydactyly with neonatal chondrodystrophy type IIIpolydactyly with neonatal chondrodystrophy, type 3Saldino-Noonan syndromeshort rib polydactyly syndrome Verma Naumoff typeshort rib-polydactyly syndrome Saldino-Noonan typeshort rib-polydactyly syndrome type 1short rib-polydactyly syndrome type 3short rib-polydactyly syndrome type IIIshort rib-polydactyly syndrome, type 2Bshort-rib thoracic dysplasia 3 with or without polydactyly