hypertrichosis cubiti-short stature syndrome
Findings
No curated finding names hypertrichosis cubiti-short stature syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hypertrichosis cubiti is a rare hair anomaly characterized by symmetrical, congenital or early-onset, bilateral hypertrychosis localized on the externsor surfaces of the upper extremities (especially the elbows). Short stature, or other abnormalities, such as developmental delay, facial anomalies and intellectual disability, may or may not be associated.
Definition from the Mondo Disease Ontology (MONDO:0007693), read 2026-09-29. CC BY 4.0.
Features
30 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 skin morphologyHPOHP:0011121
- Very frequent (80% to 99% of cases)
- Abnormality of the elbowHPOHP:0009811
- Very frequent (80% to 99% of cases)
- Generalized hirsutismHPOHP:0002230
- Very frequent (80% to 99% of cases)
- MicromeliaHPOHP:0002983
- Very frequent (80% to 99% of cases)
- RhizomeliaHPOHP:0008905
- Very frequent (80% to 99% of cases)
- Severe short statureHPOHP:0003510
- Very frequent (80% to 99% of cases)
Show the remaining 18
- Abnormal eyelash morphologyHPOHP:0000499
- Occasional (5% to 29% of cases)
- Abnormal eyelid morphologyHPOHP:0000492
- Occasional (5% to 29% of cases)
- Abnormal nasolacrimal system morphologyHPOHP:0000614
- Occasional (5% to 29% of cases)
- Abnormality of the faceHPOHP:0000271
- Occasional (5% to 29% of cases)
- Abnormality of the neckHPOHP:0000464
- Occasional (5% to 29% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Occasional (5% to 29% of cases)
Where it sits
Other names
3 names
Resolves to: hypertrichosis cubiti-short stature syndrome
- Also called
- hairy elbowshairy elbows syndromeMacDermot-Patton-Williams syndrome