Clinical Guidance

CTDP1-related congenital cataracts, facial dysmorphism, and neuropathy (CTDP1-CCFDN) is a complex disorder whose major manifestations involve the anterior segment of the eye, the skull and face, the nervous system, and the endocrine system [, , , , , ]. To date, 190 individuals have been identified with a pathogenic variant in CTDP1 [, , , , , , , ]. The following description of the phenotypic features associated with CTDP1-CCFDN is based on these reports. Table 2. CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy: Frequency of Select Features

Diagnostic Criteria

Suggestive Findings

CTDP1-related congenital cataracts, facial dysmorphism, and neuropathy (CTDP1-CCFDN) should be suspected in individuals with the following clinical findings:

• Bilateral congenital cataracts, microcornea, and micropupils

• Mildly dysmorphic facial features apparent from late childhood (prominent midface with a well-developed nose, thickening of the perioral tissues, forwardly directed anterior dentition, and micrognathia)

Management Guidelines

No clinical practice guidelines for CTDP1-related congenital cataracts, facial dysmorphism, and neuropathy (CTDP1-CCFDN) have been published.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with CTDP1-CCFDN and to address the most disabling manifestations, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the following evaluations are recommended. Table 6. Recommended Surveillance for Individuals with CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy