Oculocerebral hypopigmentation syndrome, Cross type

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.



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Narrow down the case reports



Total: 11 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(41.7%)		 6663291
 An oculocerebral hypopigmentation syndrome.
Preus M, Fraser FC, Wiglesworth FW.
J Genet Hum. 1983;31(4):323-8.
Dolichocephaly Widely spaced teeth
Females Homo sapiens Infant Pigmentation Disorders Syndrome
2
(39.0%)		 22327602
 Oculocerebral hypopigmentation syndrome maps to chromosome 3q27.1q29.
Chabchoub E, Cogulu O, Durmaz B, Vermeesch JR, Ozkinay F, Fryns JP.
Dermatology. 2011;223(4):306-10.
Microcephaly
Child, Preschool Chromosome Mapping Chromosomes, Human, Pair 3 Craniofacial Abnormalities Females Genetic Association Studies Homo sapiens Intellectual Disability Microcephaly Pigmentation Disorders
3
(27.8%)		 1804991
 Hereditary gingival fibromatosis in a family with the Zimmermann-Laband syndrome.
Bakaeen G, Scully C.
J Oral Pathol Med. 1991;20(9):457-9.
Gingival fibromatosis
Arthropathy Child External Ear Females Fibromatosis, Gingival Fingers Homo sapiens Male Nails, Malformed Nose Syndrome Toes
4
(20.4%)		 12198625
 Uropathogenic Escherichia coli as agents of diverse non-urinary tract extraintestinal infections.
Johnson JR, Russo TA.
J Infect Dis. 2002;186(6):859-64.
Meningitis Osteomyelitis
Epidural Abscess Escherichia coli Escherichia coli Infections Females Genotype Homo sapiens Male Middle Aged Osteomyelitis Phylogeny Pneumonia Psoas Abscess Surgical Wound Infection Virulence
5
(17.5%)		 9112000
 A new case of oculocerebral hypopigmentation syndrome (Cross syndrome) with additional findings.
Tezcan I, Demir E, Asan E, Kale G, Muftuoglu SF, Kotiloglu E.
Clin Genet. 1997;51(2):118-21.
Inguinal hernia
Cardiomegaly Developmental Disabilities Females Hernia, Inguinal Homo sapiens Infant Infant, Newborn Male Pregnancy Seizures Skin Syndrome
5
(17.5%)		 3191612
 Oculocerebral syndrome with hypopigmentation (Cross syndrome). Report of two siblings born to consanguineous parents.
Fryns JP, Dereymaeker AM, Heremans G, Marien J, van Hauwaert J, Turner G, Hockey A, van den Berghe H.
Clin Genet. 1988;34(2):81-4.
Spastic tetraplegia
Adult Albinism Blindness Females Homo sapiens Intellectual Disability Male Quadriplegia Strabismus Syndrome
5
(17.5%)		 1814043
 Oculocerebral hypopigmentation syndrome (Cross syndrome).
Ozkan H, Unsal E, Kose G.
Turk J Pediatr. 1991;33(4):247-52.
Optic atrophy Spasticity
Albinism, Oculocutaneous Cerebral Palsy Child, Preschool Homo sapiens Intellectual Disability Male Syndrome X-Ray Computed Tomography
5
(17.5%)		 1544218
 Oculocerebral syndrome with hypopigmentation (Cross syndrome): report of a new case.
Lerone M, Pessagno A, Taccone A, Poggi G, Romeo G, Silengo MC.
Clin Genet. 1992;41(2):87-9.
Athetosis Spastic tetraplegia
Brain Child Eye Hair Color Homo sapiens Infant Magnetic Resonance Imaging Male Pigmentation Disorders Syndrome
9
(4.0%)		 22366245
 Diaphragm paralysis caused by transverse cervical artery compression of the phrenic nerve: the Red Cross syndrome.
Kaufman MR, Willekes LJ, Elkwood AI, Rose MI, Patel TR, Ashinoff RL, Colicchio AR.
Clin Neurol Neurosurg. 2012;114(5):502-5.
Paralysis
Adult Arteries Electromyography Females Fluoroscopy Homo sapiens Iatrogenic Disease Magnetic Resonance Imaging Male Middle Aged Neck Nerve Block Regional Blood Flow Respiratory Paralysis Retrospective Studies Spirometry Traction X-Ray Computed Tomography
9
(4.0%)		 12827064
 A clinical variant of familial Hermansky-Pudlak syndrome.
Iannello S, Fabbri G, Bosco P, Cavaleri A, Cantarella S, Camuto M, Milazzo P, Romeo F, Belfiore F.
MedGenMed. 2003;5(1):3.
Visual impairment
Adult Ceroid Females Hermanski-Pudlak Syndrome Homo sapiens Lipofuscin Platelet Storage Pool Deficiency Precancerous Conditions Sibling Skin Neoplasms
        

Phenotype(s) retrieved from Orphanet

    Total: 45

HPO ID Term Frequency
HP:0000174 Abnormal palate morphology Very frequent (99-80%)
HP:0000963 Thin skin Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0000028 Cryptorchidism Frequent (79-30%)
HP:0000160 Narrow mouth Frequent (79-30%)
HP:0000268 Dolichocephaly Frequent (79-30%)
HP:0000463 Anteverted nares Frequent (79-30%)
HP:0000478 Abnormality of the eye Frequent (79-30%)
HP:0000504 Abnormality of vision Frequent (79-30%)
HP:0000518 Cataract Frequent (79-30%)
HP:0000639 Nystagmus Frequent (79-30%)
HP:0000656 Ectropion Frequent (79-30%)
HP:0000691 Microdontia Frequent (79-30%)
HP:0001107 Ocular albinism Frequent (79-30%)
HP:0001166 Arachnodactyly Frequent (79-30%)
HP:0001251 Ataxia Frequent (79-30%)
HP:0001257 Spasticity Frequent (79-30%)
HP:0001347 Hyperreflexia Frequent (79-30%)
HP:0001376 Limitation of joint mobility Frequent (79-30%)
HP:0001510 Growth delay Frequent (79-30%)
HP:0001903 Anemia Frequent (79-30%)
HP:0002071 Abnormality of extrapyramidal motor function Frequent (79-30%)
HP:0002353 EEG abnormality Frequent (79-30%)
HP:0002510 Spastic tetraplegia Frequent (79-30%)
HP:0003196 Short nose Frequent (79-30%)
HP:0005280 Depressed nasal bridge Frequent (79-30%)
HP:0007256 Abnormal pyramidal sign Frequent (79-30%)
HP:0007957 Corneal opacity Frequent (79-30%)
HP:0008056 Aplasia/Hypoplasia affecting the eye Frequent (79-30%)
HP:0100022 Abnormality of movement Frequent (79-30%)
HP:0000023 Inguinal hernia Occasional (29-5%)
HP:0000071 Ureteral stenosis Occasional (29-5%)
HP:0000079 Abnormality of the urinary system Occasional (29-5%)
HP:0000252 Microcephaly Occasional (29-5%)
HP:0000407 Sensorineural hearing impairment Occasional (29-5%)
HP:0000545 Myopia Occasional (29-5%)
HP:0001139 Choroideremia Occasional (29-5%)
HP:0001172 Abnormal thumb morphology Occasional (29-5%)
HP:0001305 Dandy-Walker malformation Occasional (29-5%)
HP:0001608 Abnormality of the voice Occasional (29-5%)
HP:0002305 Athetosis Occasional (29-5%)
HP:0005561 Abnormality of bone marrow cell morphology Occasional (29-5%)
HP:0005599 Hypopigmentation of hair Occasional (29-5%)
HP:0007730 Iris hypopigmentation Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 7

HPO ID Term # of case reports
HP:0000023 Inguinal hernia 1
HP:0000169 Gingival fibromatosis 1
HP:0000648 Optic atrophy 1
HP:0001257 Spasticity 1
HP:0002132 Porencephalic cyst 1
HP:0003470 Paralysis 1
HP:0025356 Psychomotor retardation 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID