Ackerman syndrome
MONDO:0008706Ackerman syndrome is characterized by pyramidal molar roots and taurodontism, associated with variable anomalies. It has been described in two generations of one family. Both parents and their six sibs had pyramidal, taurodont or fused molar roots. Some of the patients also had hypotrichosis, an abnormal upper lip, thickened and wide philtrum, and/or juvenile glaucoma. Other features included entropion of the eyelid, syndactyly and clinodactyly of the fifth fingers.
Also known as: Ackerman fused molar rooth syndrome, Ackerman syndrome, pyramidal molar-glaucoma-upper abnormal lip syndrome, glaucoma, juvenile, with unusual upper lip and dental roots, juvenile glaucoma with unusual upper lip and dental roots, molar roots, pyramidal, with juvenile glaucoma and unusual upper lip, pyramidal molars, glaucoma, abnormal upper lip
11 clinical trials for this condition and its sub-types.
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Gene sequencing uncovers mysterious fetal malformations
Knowledge-focused CompletedThis study tested whether a powerful DNA test called high-throughput exome sequencing can find genetic causes of multiple birth defects in fetuses when standard exams fail. Researchers studied 100 fetuses with at least two malformations and no prior diagnosis. They compared the n…
Sponsor: Centre Hospitalier Universitaire Dijon • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:03 UTC
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Speedy gene test aims to give answers on birth defects in just 7 days
Knowledge-focused CompletedThis study tested whether a fast type of genetic test called rapid genome sequencing can find the cause of birth defects seen on ultrasound more quickly than current methods. Researchers included 184 pregnancies with certain ultrasound findings. The goal was to see if results cou…
Sponsor: Centre Hospitalier Universitaire Dijon • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:00 UTC
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AI could cut skin specialist wait times, study hints
Knowledge-focused CompletedThis study tested an artificial intelligence algorithm designed to help primary care doctors decide whether a patient with a skin condition really needs to see a dermatologist. Researchers enrolled 200 adults with skin problems and had their doctors take photos of the affected ar…
Sponsor: AI Labs Group S.L • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC