rhizomelic syndrome, Urbach type
Findings
No curated finding names rhizomelic syndrome, Urbach type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Rhizomelic syndrome, Urbach type is a rare primary bone dysplasia characterized by upper limbs rhizomelia and other skeletal anomalies (e.g. short stature, dislocated hips, digitalization of the thumb with bifid distal phalanx), craniofacial features (e.g. microcephaly, large anterior fontanelle, fine and sparse scalp hair, depressed nasal bridge, high arched palate, micrognathia, short neck), congenital heart defects (e.g. pulmonary stenosis), delayed psychomotor development and mild flexion contractures of elbows. Radiologic evaluation may reveal flared epiphyses, platyspondyly and/or digital anomalies.
Definition from the Mondo Disease Ontology (MONDO:0009996), read 2026-09-29. CC BY 4.0.
Features
26 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 epiphysis morphologyHPOHP:0005930
- Very frequent (80% to 99% of cases)
- Abnormal hair quantityHPOHP:0011362
- Very frequent (80% to 99% of cases)
- Abnormal humerus morphologyHPOHP:0031095
- Very frequent (80% to 99% of cases)
- Abnormal vertebral body morphologyHPOHP:0003312
- Very frequent (80% to 99% of cases)
- Abnormality of the elbowHPOHP:0009811
- Very frequent (80% to 99% of cases)
- Abnormality of the kneeHPOHP:0002815
- Very frequent (80% to 99% of cases)
Show the remaining 14
- Limitation of joint mobilityHPOHP:0001376
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Preaxial hand polydactylyHPOHP:0001177
- Very frequent (80% to 99% of cases)
- Pulmonic stenosisHPOHP:0001642
- Very frequent (80% to 99% of cases)
- RhizomeliaHPOHP:0008905
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of