progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
Findings
No curated finding names progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
76 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.
- Autistic behaviorHPOHP:0000729
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Carpal bone hypoplasiaHPOHP:0001498
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Frontal bossingHPOHP:0002007
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Limited elbow extensionHPOHP:0001377
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- MicrocephalyHPOHP:0000252
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 64
- Overlapping toeHPOHP:0001845
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- PlatyspondylyHPOHP:0000926
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Premature rupture of membranesHPOHP:0001788
- 1 of 1 reported patient
- ScoliosisHPOHP:0002650
- 5 of 5 reported patients
- Short femoral neckHPOHP:0100864
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Short fourth metatarsalHPOHP:0004689
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.
- RSPRY1HGNC:29420
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2016
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- Also called
- SEMDFAspondyloepimetaphyseal dysplasia, faden-Alkuraya type