terminal osseous dysplasia-pigmentary defects syndrome
Findings
No curated finding names terminal osseous dysplasia-pigmentary defects syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
Definition from the Mondo Disease Ontology (MONDO:0010279), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked dominant inheritance
HPO, annotations 2026-09-02
Features
27 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.
- BrachydactylyHPOHP:0001156
- 5 of 6 reported patients
- Frequent (30% to 79% of cases)
- ClinodactylyHPOHP:0030084
- 4 of 5 reported patients
- Frequent (30% to 79% of cases)
- Hyperpigmented papuleHPOHP:0025473
- Very frequent (80% to 99% of cases)
- Inclusion body fibromatosisHPOHP:0025197
- Very frequent (80% to 99% of cases)
- Accessory oral frenulumHPOHP:0000191
- 2 of 3 reported patients
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- 4 of 6 reported patients
Show the remaining 15
- CamptodactylyHPOHP:0012385
- Occasional (5% to 29% of cases)
- Depressed nasal tipHPOHP:0000437
- 2 of 6 reported patients
- Occasional (5% to 29% of cases)
- Hypoplasia of teethHPOHP:0000685
- Occasional (5% to 29% of cases)
- Iris colobomaHPOHP:0000612
- 1 of 7 reported patients
- Occasional (5% to 29% of cases)
- Osteolysis involving bones of the lower limbsHPOHP:0009139
- Occasional (5% to 29% of cases)
- Osteolysis involving bones of the upper limbsHPOHP:0045039
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 · 2021
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
1 name
Resolves to: terminal osseous dysplasia-pigmentary defects syndrome
- Also called
- terminal osseous dysplasia, X-linked dominant