Autozomálně dominantní
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.
Příznaky a projevy
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.
Co se diagnózou změní
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.
Analyzované geny
Známé také jako
Finlay-Marks syndrome; hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples; Sen syndrome; SENS
