Diagnostic Criteria

Suggestive Findings

Microphthalmia with linear skin defects (MLS) syndrome should be suspected in females with one or both major criteria especially in the presence of a family history consistent with X-linked inheritance with male lethality (see , , and ). Almost all individuals with MLS syndrome are female; however, a few affected males, typically with an XX karyotype, have been reported.

Major Criteria

• Microphthalmia and/or anophthalmia

• Reported in 81% of affected individuals

• Can be unilateral or bilateral

• Linear skin defects

• Reported in 75% of affected individuals

• Present at birth

• Usually involve the face and neck , although the scalp and occasionally the upper trunk may be involved

• Heal with age, leaving minimal residual scarring

Establishing the Diagnosis

The clinical signs observed in ML...

Source: GeneReviews — "Microphthalmia with Linear Skin Defects Syndrome"

Differential Diagnosis

Table 2. Disorders to Consider in the Differential Diagnosis of MLS Syndrome

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with microphthalmia with linear skin lesions (MLS) syndrome, the following evaluations (if not performed as part of the evaluation that led to the diagnosis) are recommended:

• Ophthalmologic examination

• Dermatologic evaluation for skin lesions

• Brain MRI for corpus callosum dysgenesis and other neurologic abnormalities

• Developmental assessment, with further evaluation if significant delays are identified

• Cardiac evaluation

• Hearing evaluation, as hearing loss is observed in 8% of cases

• Consideration of abdominal MRI and standard protocols for management of diaphragmatic hernia

• Consultation with a clinical geneticist and/or genetic counselor

Treatment of Manifestations

The following are appropriate:

• Under the guidance of an oculoplastics specialist, use of a prosthesis in severe microphthalmia and anophthalmia

• Regular care by a dermatologist for individuals with significant skin lesions

• Referral to a pediatric neurologist for evaluation and treatment if microcephaly, seizures, and/or other neurologic abnormalities are present

• Appropriate developmental therapies and special education as indicated for developmental delay and intellectual disability

• Standard care for cardiac concerns and other malformations, when present

Surveillance

Monitoring and follow up with ophthalmologist, dermatologist, pediatric neurologist, and other professionals as needed is appropriate. Affected indi...

Source: GeneReviews — "Microphthalmia with Linear Skin Defects Syndrome"

Surveillance Guidelines

Monitoring and follow up with ophthalmologist, dermatologist, pediatric neurologist, and other professionals as needed is appropriate. Affected individuals with cardiac concerns should have regular complete evaluation at intervals determined by the cardiologist.

Source: GeneReviews — "Microphthalmia with Linear Skin Defects Syndrome"