Orpha Number: 3429 Disease 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 [rarediseases.info.nih.gov]

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Long fingers Small face Hand clenching Abnormality of the liver Abnormal oral frenulum morphology Abnormality iris morphology Bullet-shaped distal phalanx of the hallux Hydrocephalus Visual loss Cloverleaf skull Deviation of the thumb Fever Diarrhea Vomiting [mendelian.co]

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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). [rarediseases.info.nih.gov]

McElhinney DB, Geiger E, Blinder J et al (2003) NKX2.5 mutations in patients with congenital heart disease. J Am Coll Cardiol 42:1650–1655 PubMed CrossRef Google Scholar 36. [link.springer.com]

ears Low set ears Lowset ears [ more ] 0000369 Micrognathia Little lower jaw Small jaw Small lower jaw [ more ] 0000347 Microtia Small ears Underdeveloped ears [ more ] 0008551 Non-midline cleft lip 0100335 Tarsal synostosis Fused ankle bones 0008368 [rarediseases.info.nih.gov]

set ears * Metacarpal anomalies * Tarsal fusion * Ectopic testes Causes - Verloove Vanhorick Brubakk syndrome Not supplied. [checkorphan.org]

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[…] 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 [rarediseases.info.nih.gov]

HP:0008551 3 cleft palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000175 4 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347 5 abnormal form of the vertebral bodies 60 33 hallmark (90%) Very frequent (99-80%) HP:0003312 6 cryptorchidism [malacards.org]

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