Melnick-Needles syndrome
Findings
No curated finding names Melnick-Needles syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.
Definition from the Mondo Disease Ontology (MONDO:0010650), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
- Onset and course
- Childhood onset · Late first trimester onset
HPO, annotations 2026-09-02
Features
107 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.
- Abnormal facial shapeHPOHP:0001999
- 1 of 1 reported patient
- Abnormality of radial diaphysisHPOHP:0004027
- 1 of 1 reported patient
- Anti-Ku antibody positivityHPOHP:0034088
- 1 of 1 reported patient
- Anti-PM-Scl75 antibody positivityHPOHP:0034086
- 1 of 1 reported patient
- ArthralgiaHPOHP:0002829
- 1 of 1 reported patient
- Atrial septal defectHPOHP:0001631
- 1 of 1 reported patient
- Atrial septal dilatationHPOHP:0011995
Show the remaining 95
- Cone-shaped epiphyses of the distal phalanges of the handHPOHP:0010248
- 1 of 1 reported patient
- Coxa valgaHPOHP:0002673
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Deep philtrumHPOHP:0002002
- 1 of 1 reported patient
- Dental malocclusionHPOHP:0000689
- 1 of 1 reported patient
- Deviated nasal septumHPOHP:0004411
- 1 of 1 reported patient
- Erlenmeyer flask deformity of the femursHPOHP:0004975
- 2 of 2 reported patients
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.
- FLNAHGNC:3754
- Definitive · G2P · X-linked · 2023
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
2 names
Resolves to: Melnick-Needles syndrome
- Also called
- Melnick-Needles osteodysplastyMelnick-Needles syndrome, X-linked dominant