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Cross syndrome

MedGen UID:
423639
Concept ID:
C2936910
Disease or Syndrome
Synonyms: Hypopigmentation oculocerebral syndrome Cross type; Kramer syndrome; Oculocerebral hypopigmentation syndrome; Oculocerebral syndrome with hypopigmentation
SNOMED CT: Cross syndrome (17827007); Oculocerebral-hypopigmentation syndrome (17827007); Oculocerebral hypopigmentation syndrome Cross type (17827007); Kramer syndrome (17827007)
 
Monarch Initiative: MONDO:0009767
OMIM®: 257800
Orphanet: ORPHA2719

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. [from ORDO]

Clinical features

From HPO
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Athetosis
MedGen UID:
2115
Concept ID:
C0004158
Disease or Syndrome
A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Dandy-Walker syndrome
MedGen UID:
4150
Concept ID:
C0010964
Disease or Syndrome
Dandy-Walker malformation is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Affected individuals often have motor deficits such as delayed motor development, hypotonia, and ataxia; about half have mental retardation and some have hydrocephalus. DWM is a heterogeneous disorder. The low empiric recurrence risk of approximately 1 to 2% for nonsyndromic DWM suggests that mendelian inheritance is unlikely (summary by Murray et al., 1985).
Hypopigmentation of the skin
MedGen UID:
102477
Concept ID:
C0162835
Disease or Syndrome
A reduction of skin color related to a decrease in melanin production and deposition.
Silver-gray hair
MedGen UID:
322949
Concept ID:
C1836576
Finding
Hypopigmented hair that appears silver-gray.
Abnormality of the eye
MedGen UID:
1370071
Concept ID:
C4316870
Anatomical Abnormality
Any abnormality of the eye, including location, spacing, and intraocular abnormalities.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCross syndrome

Professional guidelines

PubMed

Vinnitskaya EV, Abdulkhakov SR, Abdurakhmanov DT, Alikhanov RB, Bakulin IG, Belousova EA, Bueverov AO, Burnevitch EZ, Efanov MG, Eremina EY, Ignatova ТМ, Ilchenko LY, Karmazanovsky GG, Knyazev OV, Kulezneva YV, Lopatkina TN, Nekrasova TP, Nikitin IG, Pavlenko VV, Parfenov AI, Podymova SD, Raichelson KL, Reisis AR, Sayfutdinov RG, Skazyvaeva EV, Syutkin VE, Khomeriki SG, Haimenova TY, Sandler YG
Ter Arkh 2019 Mar 17;91(2):9-15. doi: 10.26442/00403660.2019.02.000075. PMID: 31094167
Engsbro AL, Begtrup LM, Kjeldsen J, Larsen PV, de Muckadell OS, Jarbøl DE, Bytzer P
Am J Gastroenterol 2013 Jun;108(6):972-80. Epub 2013 Feb 19 doi: 10.1038/ajg.2013.15. PMID: 23419383

Recent clinical studies

Etiology

Bissell S, Oliver C, Moss J, Heald M, Waite J, Crawford H, Kothari V, Rumbellow L, Walters G, Richards C
J Neurodev Disord 2022 Mar 29;14(1):25. doi: 10.1186/s11689-022-09426-0. PMID: 35350986Free PMC Article
Baggio M, Toffoli L, Da Rold M, Duma GM, Mento G, Morao V, Danieli A, Bonanni P
Child Neuropsychol 2022 Oct;28(7):878-902. Epub 2022 Jan 27 doi: 10.1080/09297049.2022.2028754. PMID: 35086426
Fanning PAJ, Sparaci L, Dissanayake C, Hocking DR, Vivanti G
Child Neuropsychol 2021 Jan;27(1):125-149. Epub 2020 Aug 20 doi: 10.1080/09297049.2020.1804846. PMID: 32819180
Gillani SN, Ain Q-, Rehman SU, Masood T
J Pak Med Assoc 2020 Mar;70(3):394-398. doi: 10.5455/JPMA.300417. PMID: 32207413
Bissell S, Wilde L, Richards C, Moss J, Oliver C
J Neurodev Disord 2018 Jan 10;10(1):2. doi: 10.1186/s11689-017-9221-x. PMID: 29329513Free PMC Article

Diagnosis

Baggio M, Toffoli L, Da Rold M, Duma GM, Mento G, Morao V, Danieli A, Bonanni P
Child Neuropsychol 2022 Oct;28(7):878-902. Epub 2022 Jan 27 doi: 10.1080/09297049.2022.2028754. PMID: 35086426
Fanning PAJ, Sparaci L, Dissanayake C, Hocking DR, Vivanti G
Child Neuropsychol 2021 Jan;27(1):125-149. Epub 2020 Aug 20 doi: 10.1080/09297049.2020.1804846. PMID: 32819180
Roberts JE, McCary LM, Shinkareva SV, Bailey DB Jr
J Autism Dev Disord 2016 Jun;46(6):2088-2099. doi: 10.1007/s10803-016-2737-1. PMID: 26864160Free PMC Article
Klusek J, Roberts JE, Losh M
Psychol Bull 2015 Jan;141(1):141-75. Epub 2014 Nov 24 doi: 10.1037/a0038237. PMID: 25420222Free PMC Article
Poulopoulos A, Kittas D, Sarigelou A
J Investig Clin Dent 2011 Aug;2(3):156-61. Epub 2011 Mar 15 doi: 10.1111/j.2041-1626.2011.00054.x. PMID: 25426785

Therapy

Toffoli L, Scerif G, Snowling MJ, Norcia AM, Manning C
Cortex 2021 Oct;143:109-126. Epub 2021 Jul 28 doi: 10.1016/j.cortex.2021.06.018. PMID: 34399308Free PMC Article
Gillani SN, Ain Q-, Rehman SU, Masood T
J Pak Med Assoc 2020 Mar;70(3):394-398. doi: 10.5455/JPMA.300417. PMID: 32207413
Karimian R, Rahnama N, Ghasemi G, Lenjannejadian S
J Res Health Sci 2019 Jul 3;19(3):e00450. PMID: 31586371Free PMC Article
Kaufman MR, Willekes LJ, Elkwood AI, Rose MI, Patel TR, Ashinoff RL, Colicchio AR
Clin Neurol Neurosurg 2012 Jun;114(5):502-5. Epub 2012 Feb 24 doi: 10.1016/j.clineuro.2012.01.048. PMID: 22366245

Prognosis

Baggio M, Toffoli L, Da Rold M, Duma GM, Mento G, Morao V, Danieli A, Bonanni P
Child Neuropsychol 2022 Oct;28(7):878-902. Epub 2022 Jan 27 doi: 10.1080/09297049.2022.2028754. PMID: 35086426
Glod M, Riby DM, Rodgers J
J Intellect Disabil Res 2020 Aug;64(8):657-665. Epub 2020 May 13 doi: 10.1111/jir.12738. PMID: 32400919
Joyce A, Hill CM, Karmiloff-Smith A, Dimitriou D
Am J Intellect Dev Disabil 2019 Jul;124(4):339-353. doi: 10.1352/1944-7558-124.4.339. PMID: 31199684
Steele A, Scerif G, Cornish K, Karmiloff-Smith A
J Child Psychol Psychiatry 2013 Jul;54(7):754-62. Epub 2013 May 29 doi: 10.1111/jcpp.12070. PMID: 23718731
Poulopoulos A, Kittas D, Sarigelou A
J Investig Clin Dent 2011 Aug;2(3):156-61. Epub 2011 Mar 15 doi: 10.1111/j.2041-1626.2011.00054.x. PMID: 25426785

Clinical prediction guides

Ikeda A, Hakuno Y, Asada K, Ikeda T, Yamagata T, Hirai M
Autism Res 2023 Dec;16(12):2378-2390. Epub 2023 Nov 16 doi: 10.1002/aur.3053. PMID: 37975148
Zhang C, Zhang J, Yang G
Medicine (Baltimore) 2023 Jul 28;102(30):e34273. doi: 10.1097/MD.0000000000034273. PMID: 37505162Free PMC Article
Bissell S, Oliver C, Moss J, Heald M, Waite J, Crawford H, Kothari V, Rumbellow L, Walters G, Richards C
J Neurodev Disord 2022 Mar 29;14(1):25. doi: 10.1186/s11689-022-09426-0. PMID: 35350986Free PMC Article
Glod M, Riby DM, Rodgers J
J Intellect Disabil Res 2020 Aug;64(8):657-665. Epub 2020 May 13 doi: 10.1111/jir.12738. PMID: 32400919
Zhang D, Roche L, Bartl-Pokorny KD, Krieber M, McLay L, Bölte S, Poustka L, Sigafoos J, Gugatschka M, Einspieler C, Marschik PB
Res Dev Disabil 2018 Nov;82:95-108. Epub 2018 Apr 12 doi: 10.1016/j.ridd.2018.04.004. PMID: 29655507Free PMC Article

Recent systematic reviews

Luzanova E, Stepanova S, Nadtochiy N, Kryukova E, Karpova M
Acta Neurol Belg 2023 Apr;123(2):367-374. Epub 2022 Jun 14 doi: 10.1007/s13760-022-01926-z. PMID: 35699899

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