metaphyseal dysplasia without hypotrichosis
MONDO:0009601Mondo
Findings
No curated finding names metaphyseal dysplasia without hypotrichosis 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
- Childhood onset
HPO, annotations 2026-09-02
Features
13 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.
- Cone-shaped epiphyses of the phalanges of the handHPOHP:0010230
- 2 of 2 reported patients
- Metaphyseal dysplasiaHPOHP:0100255
- 2 of 2 reported patients
- Metaphyseal irregularityHPOHP:0003025
- 2 of 2 reported patients
- Metaphyseal striationsHPOHP:0031367
- 2 of 2 reported patients
- Short metacarpalHPOHP:0010049
- 2 of 2 reported patients
- Short statureHPOHP:0004322
- 2 of 2 reported patients
- Genu varumHPOHP:0002970
- 1 of 2 reported patients
- Joint hypermobilityHPOHP:0001382
- 1 of 2 reported patients
- Abnormal facial shapeHPOHP:0001999
- 0 of 2 reported patients
- Abnormal hair morphologyHPOHP:0001595
- 0 of 2 reported patients
- Abnormal pelvic girdle bone morphologyHPOHP:0002644
- 0 of 2 reported patients
- Abnormality of the vertebral columnHPOHP:0000925
- 0 of 2 reported patients
Show the remaining 1
- ImmunodeficiencyHPOHP:0002721
- 0 of 2 reported patients
Where it sits
- A kind of