Verloove Vanhorick-Brubakk syndrome
Findings
No curated finding names Verloove Vanhorick-Brubakk syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Verloove Vanhorick-Brubakk syndrome is a multiple congenital anomalies/dysmorphic syndrome characterized by multiple skeletal malformations (short femora and humeri, bilateral absence of metatarsal and metacarpal bone in hands and feet, bilateral partial syndactyly of fingers and toes or oligopolysyndactyly, deformed lumbosacral spine), congenital heart disease (truncus arteriosus), lung and urogenital malformations (bilateral bilobar lungs, horseshoe kidney, cryptorchidism), and facial malformations (bilateral cleft lip and palate, micrognathia, small, low-set ears without external meatus). It is lethal in the neonatal period. There have been no further descriptions in the literature since 1981.
Definition from the Mondo Disease Ontology (MONDO:0008991), read 2026-09-29. CC BY 4.0.
Features
18 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 cardiovascular system morphologyHPOHP:0030680
- Very frequent (80% to 99% of cases)
- Abnormal femur morphologyHPOHP:0002823
- Very frequent (80% to 99% of cases)
- Abnormal metacarpal morphologyHPOHP:0005916
- Very frequent (80% to 99% of cases)
- Abnormal pelvic girdle bone morphologyHPOHP:0002644
- Very frequent (80% to 99% of cases)
- Abnormal vertebral body morphologyHPOHP:0003312
- Very frequent (80% to 99% of cases)
- Abnormality of the parathyroid glandHPOHP:0000828
- Very frequent (80% to 99% of cases)
Show the remaining 6
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- MicrotiaHPOHP:0008551
- Very frequent (80% to 99% of cases)
- Non-midline cleft of the upper lipHPOHP:0100335
- Very frequent (80% to 99% of cases)
- Tarsal synostosisHPOHP:0008368
- Very frequent (80% to 99% of cases)
- Abnormal localization of kidneyHPOHP:0100542
- Frequent (30% to 79% of cases)
- Finger syndactylyHPOHP:0006101
- Frequent (30% to 79% of cases)
Where it sits
Other names
2 names
Resolves to: Verloove Vanhorick-Brubakk syndrome
- Also called
- cleft lip-limb and heart malformations syndromecleft-limb-heart malformation syndrome syndrome