Ehlers-Danlos syndrome, kyphoscoliotic type, 2
Findings
No curated finding names Ehlers-Danlos syndrome, kyphoscoliotic type, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.
Definition from the Mondo Disease Ontology (MONDO:0013800), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Fetal onset
HPO, annotations 2026-09-02
Features
50 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.
- Bladder diverticulumHPOHP:0000015
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Cutis laxaHPOHP:0000973
- 1 of 1 reported patient
- Decreased fetal movementHPOHP:0001558
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 7 of 7 reported patients
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- HypotelorismHPO
Show the remaining 38
- Neonatal hypotoniaHPOHP:0001319
- 1 of 1 reported patient
- Patent ductus arteriosusHPOHP:0001643
- 1 of 1 reported patient
- Pes planusHPOHP:0001763
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- PolyhydramniosHPOHP:0001561
- 1 of 1 reported patient
- Poor head controlHPOHP:0002421
- 7 of 7 reported patients · Infantile onset
- Very frequent (80% to 99% of cases)
- Redundant umbilical skinHPOHP:0034361
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.
- FKBP14HGNC:18625
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
7 names
Resolves to: Ehlers-Danlos syndrome, kyphoscoliotic type, 2
- Also called
- EDS with progressive kyphoscoliosis, myopathy, and deafnessEDS with progressive kyphoscoliosis, myopathy, and hearing lossEDS, kyphoscoliotic and hearing loss typeEhlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafnessEhlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing lossEhlers-Danlos syndrome, kyphoscoliotic and deafness typeEhlers-Danlos syndrome, kyphoscoliotic and hearing loss type