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| schimmelpfennig_feuerstein_mims_syndrome [2025/06/22 11:40] – Scott Larson | schimmelpfennig_feuerstein_mims_syndrome [2026/06/29 08:19] (current) – [Main Features] Scott Larson | ||
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| * Congenital neurocutaneous disorder | * Congenital neurocutaneous disorder | ||
| * Subtype of epidermal nevus syndrome or " | * Subtype of epidermal nevus syndrome or " | ||
| - | * linear or systematized nevus sebaceus typically involving the scalp or face | + | * linear or systematized nevus sebaceus typically involving the scalp or face |
| + | * linear, waxy, alopecic plaque typically of the scalp or face | ||
| + | * 2.4% lifetime risk of malignant transformation | ||
| + | * **Classic Triad** | ||
| + | * Seizures | ||
| + | * Intellectual disability/ | ||
| + | * Hemimegalencephaly | ||
| + | * often ipsilateral to the cutaneous nevus | ||
| + | * gyral malformations, | ||
| ====Eye Findings==== | ====Eye Findings==== | ||
| Line 14: | Line 22: | ||
| * Coloboma of eyelid, choroid and/or retina | * Coloboma of eyelid, choroid and/or retina | ||
| * Optic nerve hypoplasia or atrophy | * Optic nerve hypoplasia or atrophy | ||
| + | * Choroidal osteomas | ||
| * Peripapillary staphyloma | * Peripapillary staphyloma | ||
| * Microphthalmia | * Microphthalmia | ||
| * Strabismus | * Strabismus | ||
| * Ptosis | * Ptosis | ||
| + | * Cortical visual impairment | ||
| ====Other Findings==== | ====Other Findings==== | ||
| - | * Neurological | ||
| - | * Seizures | ||
| - | * Intellectual disability | ||
| - | * structural brain defects | ||
| * Skeletal Defects | * Skeletal Defects | ||
| * Cardiovascular defects | * Cardiovascular defects | ||