Phenotypes associated with the disease Scalp defects-postaxial polydactyly syndrome (ORPHA:1003):
- Calvarial skull defect (HP:0001362): A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1003)
- Encephalocele (HP:0002084): A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1003)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1003)
- Postaxial polydactyly type A (HP:0005696): Supernumerary digits located at the ulnar side of the hand with a complete extra finger and extra metacarpal. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1003)