Kaufman oculocerebrofacial syndrome

Title

Other Names:

KOS; Severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet

Categories:

Congenital and Genetic Diseases; Eye diseases; Nervous System Diseases

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 2707

Definition

Oculocerebrofacial syndrome, Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched palate, preauricular skin tags and micrognathia with respiratory distress. It has been described in about 10 cases. Other anomalies can be present: long thin hands and feet, ambiguous genitalia, hypertelorism, etc. An autosomal recessive mode of inheritance seems most likely.

Visit the Orphanet disease page for more resources.

Last updated: 10/1/2006

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Arachnodactyly	Long slender fingers Spider fingers [ more ]	0001166
Brachycephaly	Short and broad skull	0000248
Flat occiput		0005469
Global developmental delay		0001263
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Long foot	Disproportionately large feet large feet long feet [ more ]	0001833
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Optic atrophy		0000648
Respiratory distress	Breathing difficulties Difficulty breathing [ more ]	0002098
Respiratory failure		0002878
Retrognathia	Receding chin Receding lower jaw Weak chin Weak jaw [ more ]	0000278
Specific learning disability		0001328
Upslanted palpebral fissure	Upward slanting of the opening between the eyelids	0000582
30%-79% of people have these symptoms
Absent eyebrow	Failure of development of eyebrows	0002223
Blepharophimosis	Narrow opening between the eyelids	0000581
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Feeding difficulties	Feeding problems Poor feeding [ more ]	0011968
Growth delay	Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ]	0001510
High, narrow palate	Narrow, high-arched roof of mouth Narrow, highly arched roof of mouth [ more ]	0002705
Long face	Elongation of face Increased height of face Increased length of face Vertical elongation of face Vertical enlargement of face Vertical overgrowth of face [ more ]	0000276
Microcornea	Cornea of eye less than 10mm in diameter	0000482
Microdontia	Decreased width of tooth	0000691
Muscle flaccidity		0010547
Myopia	Close sighted Near sighted Near sightedness Nearsightedness [ more ]	0000545
Narrow face	Decreased breadth of face Decreased width of face [ more ]	0000275
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Preauricular skin tag		0000384
Short palpebral fissure	Short opening between the eyelids	0012745
Short philtrum		0000322
Smooth philtrum		0000319
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486
Telecanthus	Corners of eye widely separated	0000506
Thin eyebrow	Thin eyebrows	0045074
Thin vermilion border	Decreased volume of lip Thin lips [ more ]	0000233
Wide mouth	Broad mouth Large mouth [ more ]	0000154
5%-29% of people have these symptoms
Chorioretinal dystrophy		0001135
Choroideremia		0001139
Clitoral hypertrophy	Enlarged clitoris	0008665
1%-4% of people have these symptoms
Absent speech	Absent speech development Lack of language development Lack of speech No speech development No speech or language development Nonverbal [ more ]	0001344
Anteverted nares	Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ]	0000463
Atrial septal defect	An opening in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ]	0001631
Clinodactyly of the 5th finger	Permanent curving of the pinkie finger	0004209
Constipation		0002019
Depressed nasal bridge	Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ]	0005280
Feeding difficulties in infancy		0008872
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Hypocholesterolemia	Decreased circulating cholesterol level	0003146
Intellectual disability, severe	Early and severe mental retardation Mental retardation, severe Severe mental retardation [ more ]	0010864
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Motor delay		0001270
Muscular hypotonia of the trunk	Low muscle tone in trunk	0008936
Narrow mouth	Small mouth	0000160
Neonatal respiratory distress	Infantile respiratory distress Newborn respiratory distress Respiratory distress, neonatal [ more ]	0002643
Ptosis	Drooping upper eyelid	0000508
Recurrent infections	Frequent infections Frequent, severe infections Increased frequency of infection infections, recurrent Predisposition to infections Susceptibility to infection [ more ]	0002719
Sparse hair		0008070
Thin skin		0000963
Percent of people who have these symptoms is not available through HPO
Abnormality of the pinna	Abnormally shaped ears Auricular malformation Deformed ears Malformed ears [ more ]	0000377
Astigmatism	Abnormal curving of the cornea or lens of the eye	0000483
Autosomal recessive inheritance		0000007
Bell-shaped thorax		0001591
Carious teeth	Dental cavities Tooth cavities Tooth decay [ more ]	0000670
Coarctation of aorta	Narrowing of aorta Narrowing of the aorta [ more ]	0001680
Congenital hip dislocation	Dislocated hip since birth	0001374
Diastema	Gap between teeth	0000699
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Hypoplasia of the corpus callosum	Underdevelopment of part of brain called corpus callosum	0002079
Hypoplastic labia majora	Small labia majora Underdeveloped vaginal lips [ more ]	0000059
Intestinal malrotation		0002566
Laryngeal stridor		0006511
Laryngomalacia	Softening of voice box tissue	0001601
Long palm		0011302
Metatarsus adductus	Front half of foot turns inward	0001840
Narrow palm		0004283
Optic disc pallor		0000543
Ovoid vertebral bodies		0003300
Short nose	Decreased length of nose Shortened nose [ more ]	0003196
Short stature	Decreased body height Small stature [ more ]	0004322
Single transverse palmar crease		0000954
Sparse and thin eyebrow	Thin, sparse eyebrows	0000535
Ventricular septal defect	Hole in heart wall separating two lower heart chambers	0001629
Ventriculomegaly		0002119

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Last updated: 7/1/2020

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Kaufman oculocerebrofacial syndrome. This website is maintained by the National Library of Medicine.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Kaufman oculocerebrofacial syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

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