Conditions / Syndrome
linear nevus sebaceous syndrome
info · Syndrome
A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS,
A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively.
Signs and symptoms
- Short stature
- Alopecia
- Seizure
- Hypopigmentation of the skin
- Horseshoe kidney
- Osteopenia
- Overgrowth
- Recurrent fractures
- Hemihypertrophy
- Hypophosphatemic rickets
Also known as: JNP; Jadassohn nevus phakomatosis; SFM syndrome; Schimmelpenning Feuerstein Mims syndrome; Schimmelpenning syndrome