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Oculocerebrofacial syndrome, Kaufman type

Synonyms
Blepharophimosis-ptosis-intellectual disability syndrome; Severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Kaufman Oculocerebrofacial Syndrome
Kaufman oculocerebrofacial syndrome (KOS) is characterized by developmental delay, severe intellectual disability, and distinctive craniofacial features. Most affected children have prenatal-onset microcephaly, hypotonia, and growth deficiency. Feeding issues, ocular abnormalities, hearing impairment, and respiratory tract abnormalities are common. Ocular abnormalities can include structural abnormalities (microcornea or microphthalmia, coloboma, optic nerve hypoplasia), refractive errors (myopia ± astigmatism, hyperopia), strabismus, and entropion. Both conductive and sensorineural hearing loss have been reported as well as mixed conductive-sensorineural hearing loss of variable severity. Breathing problems can lead to prolonged hospitalization after birth in more than half of individuals. Less common findings include ectodermal abnormalities, cardiac manifestations, urogenital abnormalities, seizures, and skeletal abnormalities.
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:
Dana Brabbing-Goldstein
Lina Basel-Salmon
view full author information

Available tests

13 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BPIDS, KOS, UBE3B
    Summary: ubiquitin protein ligase E3B

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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