Autoszomális domináns
Caused by changes in one copy of KCTD1, which regulates the AP-2 family of developmental transcription factors. It can be inherited, and severity varies between family members.
Tünetek és jelek
A raised, hairless nodule or area of missing skin on the scalp (aplasia cutis congenita), small or cup-shaped ears and absent or underdeveloped nipples and breast tissue are typical. Dental anomalies, wide-spaced eyes and partial skin webbing of fingers or toes can also occur. Less often there are kidney abnormalities.
Mit változtat a diagnózis
Kidney ultrasound, dental and hearing review, and eye checks, as kidney, dental and eye features are reported. Each child of an affected person has a 1 in 2 chance of inheriting the change, so genetic counselling and testing of relatives are recommended.
Vizsgált gének
Más néven
Finlay-Marks syndrome; hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples; Sen syndrome; SENS
