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Disease Profile

Oculocerebral syndrome with hypopigmentation

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

E70.3

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Cross syndrome; Kramer syndrome; Oculocerebral hypopigmentation syndrome;

Categories

Congenital and Genetic Diseases; Eye diseases; Mouth Diseases;

Summary

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

Orpha Number: 2719

Definition
Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.

Visit the Orphanet disease page for more resources.

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.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal palate morphology
Abnormality of the palate
Abnormality of the roof of the mouth

[ more ]

0000174
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Short stature
Decreased body height
Small stature

[ more ]

0004322
Thin skin
0000963
30%-79% of people have these symptoms
Abnormal pyramidal sign
0007256
Abnormality of extrapyramidal motor function
0002071
Abnormality of vision
Abnormality of sight
Vision issue

[ more ]

0000504
Anemia
Low number of red blood cells or hemoglobin
0001903
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Aplasia/Hypoplasia affecting the eye
Absent/small eye
Absent/underdeveloped eye

[ more ]

0008056
Arachnodactyly
Long slender fingers
Spider fingers

[ more ]

0001166
Ataxia
0001251
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Corneal opacity
0007957
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
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
Dolichocephaly
Long, narrow head
Tall and narrow skull

[ more ]

0000268
Ectropion
Eyelid turned out
0000656
EEG abnormality
0002353
Hyperreflexia
Increased reflexes
0001347
Limitation of joint mobility
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion

[ more ]

0001376
Microdontia
Decreased width of tooth
0000691
Narrow mouth
Small mouth
0000160
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Ocular albinism
Absent pigmentation in the eye
0001107
Short nose
Decreased length of nose
Shortened nose

[ more ]

0003196
Spastic tetraplegia
0002510
5%-29% of people have these symptoms
Abnormal thumb morphology
Abnormality of the thumb
Abnormality of the thumbs
Thumb deformity

[ more ]

0001172
Abnormality of bone marrow cell morphology
0005561
Abnormality of the voice
Voice abnormality
0001608
Athetosis
Involuntary writhing movements in fingers, hands, toes, and feet
0002305
Choroideremia
0001139
Dandy-Walker malformation
0001305
Hypopigmentation of hair
Loss of hair color
0005599
Inguinal hernia
0000023
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness

[ more ]

0000545
Sensorineural hearing impairment
0000407
Ureteral stenosis
Narrowing of the ureter
0000071
Percent of people who have these symptoms is not available through HPO
Abnormality of the eye
Abnormal eye
0000478
Autosomal recessive inheritance
0000007
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth

[ more ]

0001510
Hypopigmentation of the skin
Patchy lightened skin
0001010
Silver-gray hair
Silver-gray hair color
Silvery-gray hair

[ more ]

0002218
Spasticity
Involuntary muscle stiffness, contraction, or spasm
0001257

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

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • 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 Oculocerebral syndrome with hypopigmentation. Click on the link to view a sample search on this topic.