oculocerebral hypopigmentation syndrome, Cross type
diseaseOn this page
Also known as Cross syndromehypopigmentation oculocerebral syndrome Cross typeKramer syndromeoculocerebral hypopigmentation syndromeOculocerebral Syndrome with Hypopigmentation
Summary
oculocerebral hypopigmentation syndrome, Cross type (MONDO:0009767) is a disease and 3 clinical trials. A subtype of syndromic oculocutaneous albinism — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 45
- Clinical trials: 3
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 14 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
45 HPO clinical features (Orphanet curated; top 45 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000174 | Abnormal palate morphology | Very frequent (80-99%) |
| HP:0000963 | Thin skin | Very frequent (80-99%) |
| HP:0001249 | Intellectual disability | Very frequent (80-99%) |
| HP:0004322 | Short stature | Very frequent (80-99%) |
| HP:0000028 | Cryptorchidism | Frequent (30-79%) |
| HP:0000160 | Narrow mouth | Frequent (30-79%) |
| HP:0000268 | Dolichocephaly | Frequent (30-79%) |
| HP:0000463 | Anteverted nares | Frequent (30-79%) |
| HP:0000478 | Abnormality of the eye | Frequent (30-79%) |
| HP:0000504 | Abnormality of vision | Frequent (30-79%) |
| HP:0000518 | Cataract | Frequent (30-79%) |
| HP:0000639 | Nystagmus | Frequent (30-79%) |
| HP:0000656 | Ectropion | Frequent (30-79%) |
| HP:0000691 | Microdontia | Frequent (30-79%) |
| HP:0001107 | Ocular albinism | Frequent (30-79%) |
| HP:0001166 | Arachnodactyly | Frequent (30-79%) |
| HP:0001251 | Ataxia | Frequent (30-79%) |
| HP:0001257 | Spasticity | Frequent (30-79%) |
| HP:0001347 | Hyperreflexia | Frequent (30-79%) |
| HP:0001376 | Limitation of joint mobility | Frequent (30-79%) |
| HP:0001510 | Growth delay | Frequent (30-79%) |
| HP:0001903 | Anemia | Frequent (30-79%) |
| HP:0002071 | Abnormality of extrapyramidal motor function | Frequent (30-79%) |
| HP:0002353 | EEG abnormality | Frequent (30-79%) |
| HP:0002510 | Spastic tetraplegia | Frequent (30-79%) |
| HP:0003196 | Short nose | Frequent (30-79%) |
| HP:0005280 | Depressed nasal bridge | Frequent (30-79%) |
| HP:0007256 | Abnormal pyramidal sign | Frequent (30-79%) |
| HP:0007957 | Corneal opacity | Frequent (30-79%) |
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | Frequent (30-79%) |
| HP:0100022 | Abnormality of movement | Frequent (30-79%) |
| HP:0000023 | Inguinal hernia | Occasional (5-29%) |
| HP:0000071 | Ureteral stenosis | Occasional (5-29%) |
| HP:0000079 | Abnormality of the urinary system | Occasional (5-29%) |
| HP:0000252 | Microcephaly | Occasional (5-29%) |
| HP:0000407 | Sensorineural hearing impairment | Occasional (5-29%) |
| HP:0000545 | Myopia | Occasional (5-29%) |
| HP:0001139 | Choroideremia | Occasional (5-29%) |
| HP:0001172 | Abnormal thumb morphology | Occasional (5-29%) |
| HP:0001305 | Dandy-Walker malformation | Occasional (5-29%) |
| HP:0001608 | Abnormality of the voice | Occasional (5-29%) |
| HP:0002305 | Athetosis | Occasional (5-29%) |
| HP:0005561 | Abnormality of bone marrow cell morphology | Occasional (5-29%) |
| HP:0005599 | Hypopigmentation of hair | Occasional (5-29%) |
| HP:0007730 | Iris hypopigmentation | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | oculocerebral hypopigmentation syndrome, Cross type |
| Mondo ID | MONDO:0009767 |
| OMIM | 257800 |
| Orphanet | 2719 |
| SNOMED CT | 17827007 |
| UMLS | C2936910 |
| MedGen | 423639 |
| GARD | 0000105 |
| NORD | 1520 |
| Is cancer (heuristic) | no |
Also known as: Cross syndrome · hypopigmentation oculocerebral syndrome Cross type · Kramer syndrome · oculocerebral hypopigmentation syndrome · Oculocerebral Syndrome with Hypopigmentation
Disease family
This is a subtype of syndromic oculocutaneous albinism. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › syndromic disease › syndromic oculocutaneous albinism › oculocerebral hypopigmentation syndrome, Cross type
Related subtypes (3): Chediak-Higashi syndrome, Griscelli syndrome, Hermansky-Pudlak syndrome
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 3.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 3 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT06739889 | Not specified | ACTIVE_NOT_RECRUITING | Effects of ELAVl and CDOA vs Upper Thoracic Mobilization on Forward Head Posture in Upper Cross Syndrome |
| NCT06766955 | Not specified | NOT_YET_RECRUITING | Prevalence of Lower Cross Syndrome Among Female College Students and Its Relation With Dysmenorrhea |
| NCT04668040 | Not specified | COMPLETED | Comparison of Stretching and MET in Lower Cross Syndrome |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.