Hair defect with photosensitivity and intellectual disability syndrome
Hair defect with photosensitivity and intellectual disability syndrome
Definition
Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents.
Also known as Calderon Gonzalez-Cantu syndrome, Calderón-González-Cantu syndrome, hair defect with photosensitivity and intellectual disability syndrome, hair defect-photosensitivity-intellectual disability syndrome — per MONDO