Diagnostic Criteria

No consensus clinical diagnostic criteria for IDEDNIK syndrome have been published.

Suggestive Findings

IDEDNIK syndrome should be suspected in probands with the following clinical, laboratory, histopathology, and imaging findings and family history.

Clinical findings

• Infantile-onset diarrhea

• Poor weight gain and growth deficiency

• Skin and hair manifestations: ichthyosis, erythroderma, hyperkeratosis, sparse hair, and alopecia

• Global developmental delay

• Hypotonia

• Sensorineural hearing loss

• Intellectual disability (mild to severe)

• Hepatomegaly

• Recurrent infections

• Ocular manifestations: photophobia, corneal scarring, and keratitis

• Characteristic facial features: high anterior hairline, frontal bossing, low-set ears, and depressed nasal bridge

Laboratory findings

Source: GeneReviews — "IDEDNIK Syndrome"

Differential Diagnosis

IDEDNIK syndrome presents a combination of clinical and biochemical signs overlapping several disorders, including Menkes disease and Wilson disease . Table 3. Genes of Interest in the Differential Diagnosis of IDEDNIK Syndrome

Management Guidelines

No clinical practice guidelines for IDEDNIK syndrome have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with IDEDNIK syndrome, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Table 4.

IDEDNIK Syndrome: Recommended Evaluations Following Initial Diagnosis

System/Concern | Evaluation | Comment

General

| Consultation w/metabolic physician/ biochemical geneticist |

GI/ Feeding/ Nutrition

| • Consultation w/ gastroenterologist dietitian

• Assessment for aspiration risk

| May require dietary modifications, supplementation, tube feeding, or parenteral nutrition

Integument

| Dermatology consultation |

Development

| Developmental assessment | • To incl motor, adaptive, cognitive, speech-language eval

• Eval for early intervention/ special education

Musculoskeletal

| Orthopedics/ physical medicine rehab/ PT OT eval | To incl assessment of:

• Gross motor fine motor skills

• Mobility, ADL, need for adaptive devices

• Need for PT (to improve gross motor skills) /or OT (to improve fine motor skills)

Hearing

| Audiologic eval for sensorineural hearing loss |

Neurologic

| Neurologic eval | • To incl brain MRI

• Consider EEG if seizures are a concern.

• Assess for peripheral neuropathy esp in older persons.

Neurobehavioral/

Source: GeneReviews — "IDEDNIK Syndrome"

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "IDEDNIK Syndrome"

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 6. IDEDNIK Syndrome: Recommended Surveillance

Source: GeneReviews — "IDEDNIK Syndrome"