Frontonasal Dysplasia with Alopecia and Genital Anomaly
Autozomálně recesivní
Caused by changes in ALX4, a gene that guides development of the skull and face. Recessive cases have changes in both copies, and a single ALX4 change can cause enlarged openings in the skull bones (parietal foramina), so carrier parents may have this.
Příznaky a projevy
Widely spaced eyes, a broad nose with a split tip and gaps in skull bone formation. Hair loss, such as patches or partial alopecia, can occur, and males can have genital differences, such as undescended testes. Intellectual disability or brain differences such as underdevelopment of the corpus callosum can also occur.
Co se diagnózou změní
Craniofacial, dermatology, urology and developmental assessment, with surgery for facial or genital differences where needed. Genetic counselling explains the recessive inheritance, and carrier testing is available for relatives.
Analyzované geny
Známé také jako
ALX4-related FNDAG; craniofrontonasal dysplasia with alopecia and hypogonadism; FND2; frontonasal dysplasia 2; frontonasal dysplasia type 2; frontonasal dysplasia with alopecia and genital abnomality
