spondyloepimetaphyseal dysplasia, Bieganski type
Findings
No curated finding names spondyloepimetaphyseal dysplasia, Bieganski type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive.
Definition from the Mondo Disease Ontology (MONDO:0010275), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
34 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.
- Anteverted naresHPOHP:0000463
- 4 of 4 reported patients
- Occasional (5% to 29% of cases)
- AtaxiaHPOHP:0001251
- 7 of 7 reported patients
- BrachydactylyHPOHP:0001156
- 4 of 4 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 6 of 6 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 4 of 4 reported patients
- Occasional (5% to 29% 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.
- AIFM1HGNC:8768
- 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
5 names
Resolves to: spondyloepimetaphyseal dysplasia, Bieganski type
- Also called
- H-SMDhypomyelination-spondyloepimetaphyseal dysplasia syndromeleukoencephalopathy-metaphyseal chondrodysplasia syndromeleukoencephalopathy-SEMD syndromespondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, X-linked recessive