Синдром Хартсфілда
ORPHA:2117· ICD-10 Q87.8· Hartsfield syndrome
Визначення(English summary)
A rare, genetic, multiple congenital anomalies syndrome characterized by variable expression of the holoprosencephaly (HPE) spectrum in association with ectrodactyly, cleft lip/palate and/or other ectodermal anomalies. Developmental delay of variable severity and endocrine abnormalities are often associated.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant, Autosomal recessive
- Вік початку
- Antenatal