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Congenital cataracts-facial dysmorphism-neuropathy syndrome

Synonyms
CATARACT, CONGENITAL, WITH FACIAL DYSMORPHISM AND NEUROPATHY; Congenital Cataracts, Facial Dysmorphism, and Neuropathy
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy
CTDP1-related congenital cataracts, facial dysmorphism, and neuropathy (CTDP1-CCFDN) is characterized by abnormalities of the eye (bilateral congenital cataracts, microcornea, microphthalmia, micropupils), mildly dysmorphic facial features apparent in late childhood, and a hypo-/demyelinating, symmetric, distal peripheral neuropathy. The neuropathy is predominantly motor at the onset and results in delays in early motor development, progressing to severe disability by the third decade of life. Secondary foot deformities and scoliosis are common. Sensory neuropathy develops after age ten years. Most affected individuals have a mild nonprogressive intellectual deficit and cerebellar involvement including ataxia, nystagmus, intention tremor, and dysmetria. All have short stature and most have subnormal weight. Adults have hypogonadotropic hypogonadism. Parainfectious rhabdomyolysis (profound muscle weakness, myoglobinuria, and excessively elevated serum concentration of creatine kinase usually following a viral infection) is a potentially life-threatening complication. To date all affected individuals and carriers identified have been from the Romani population.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Luba Kalaydjieva
Teodora Chamova
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Available tests

35 tests are in the database for this condition.

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Clinical tests (35 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CCFDN, FCP1, CTDP1
    Summary: CTD phosphatase subunit 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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