Lowry-Wood syndrome
Findings
No curated finding names Lowry-Wood syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive.
Definition from the Mondo Disease Ontology (MONDO:0009191), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
41 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.
- Clinodactyly of the 5th fingerHPOHP:0004209
- 3 of 3 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 3 of 3 reported patients · Antenatal onset
- MicrocephalyHPOHP:0000252
- 5 of 5 reported patients
- Very frequent (80% to 99% of cases)
- Mild intellectual disabilityHPOHP:0001256
- 3 of 3 reported patients
- Multiple epiphyseal dysplasiaHPOHP:0002654
- 3 of 3 reported patients
- NystagmusHPOHP:0000639
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 29
- Abnormal epiphysis morphologyHPOHP:0005930
- Very frequent (80% to 99% of cases)
- Epiphyseal dysplasiaHPOHP:0002656
- Very frequent (80% to 99% of cases)
- Irregular epiphysesHPOHP:0010582
- Very frequent (80% to 99% of cases)
- Elbow flexion contractureHPOHP:0002987
- 2 of 3 reported patients
- Hip dislocationHPOHP:0002827
- 2 of 3 reported patients
- Abnormal retinal pigmentationHPOHP:0007703
- 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.
- HGNC:34016HGNC:34016
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
4 names
Resolves to: Lowry-Wood syndrome
- Also called
- epiphyseal dysplasia-microcephaly-nystagmus syndromeepiphyseal dysplasia, multiple, with microcephaly and retinal dystrophyLowry Wood syndromeLWS