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Chudley-McCullough syndrome(CMCS)

MedGen UID:
347699
Concept ID:
C1858695
Disease or Syndrome
Synonyms: CMCS; Deafness, autosomal recessive 82; Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction; Deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts
SNOMED CT: Chudley McCullough syndrome (773610007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): GPSM2 (1p13.3)
 
Monarch Initiative: MONDO:0011411
OMIM®: 604213
Orphanet: ORPHA314597

Definition

Chudley-McCullough syndrome is an autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal (summary by Alrashdi et al., 2011). [from OMIM]

Clinical features

From HPO
Severe sensorineural hearing impairment
MedGen UID:
867175
Concept ID:
C4021533
Disease or Syndrome
A severe form of sensorineural hearing impairment.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterised by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Arachnoid cyst
MedGen UID:
86860
Concept ID:
C0078981
Disease or Syndrome
An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid.
Polymicrogyria
MedGen UID:
78605
Concept ID:
C0266464
Congenital Abnormality
Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).
Cerebellar hypoplasia
MedGen UID:
120578
Concept ID:
C0266470
Congenital Abnormality
Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.
Gray matter heterotopia
MedGen UID:
452349
Concept ID:
C0266491
Finding
Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.
Hypoplasia of the corpus callosum
MedGen UID:
138005
Concept ID:
C0344482
Congenital Abnormality
Underdevelopment of the corpus callosum.
Partial agenesis of the corpus callosum
MedGen UID:
98127
Concept ID:
C0431368
Congenital Abnormality
A partial failure of the development of the corpus callosum.
Dysplastic corpus callosum
MedGen UID:
98128
Concept ID:
C0431369
Congenital Abnormality
Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Cerebellar dysplasia
MedGen UID:
479952
Concept ID:
C3278322
Finding
Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
Large foramen magnum
MedGen UID:
336194
Concept ID:
C1844508
Finding
An abnormal increase in the size of the foramen magnum.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Chudley-McCullough syndrome in Orphanet.

Recent clinical studies

Diagnosis

Kalil G, Barrera S, Elkins A, Grillis A, Carron J
Am J Otolaryngol 2022 Jul-Aug;43(4):103487. Epub 2022 May 6 doi: 10.1016/j.amjoto.2022.103487. PMID: 35569212
Blauen A, Stutterd CA, Stouffs K, Dumitriu D, Deggouj N, Lockhart PJ, Leventer RJ, Nassogne MC, Jansen AC
J Child Neurol 2021 Feb;36(2):152-158. Epub 2020 Oct 4 doi: 10.1177/0883073820960314. PMID: 33016209
Chapman T, Perez FA, Ishak GE, Doherty D
Am J Med Genet A 2016 Sep;170(9):2426-30. Epub 2016 Jun 17 doi: 10.1002/ajmg.a.37806. PMID: 27312216Free PMC Article
Abdel Razek AA, Castillo M
J Comput Assist Tomogr 2016 Jan-Feb;40(1):14-25. doi: 10.1097/RCT.0000000000000340. PMID: 26599961
Nadkarni TD, Menon RK, Shah AH, Goel A
Childs Nerv Syst 2008 May;24(5):541-4. Epub 2007 Oct 26 doi: 10.1007/s00381-007-0518-z. PMID: 17962956

Therapy

Kalil G, Barrera S, Elkins A, Grillis A, Carron J
Am J Otolaryngol 2022 Jul-Aug;43(4):103487. Epub 2022 May 6 doi: 10.1016/j.amjoto.2022.103487. PMID: 35569212

Prognosis

Blauen A, Stutterd CA, Stouffs K, Dumitriu D, Deggouj N, Lockhart PJ, Leventer RJ, Nassogne MC, Jansen AC
J Child Neurol 2021 Feb;36(2):152-158. Epub 2020 Oct 4 doi: 10.1177/0883073820960314. PMID: 33016209
Chapman T, Perez FA, Ishak GE, Doherty D
Am J Med Genet A 2016 Sep;170(9):2426-30. Epub 2016 Jun 17 doi: 10.1002/ajmg.a.37806. PMID: 27312216Free PMC Article
Hamzeh AR, Nair P, Mohamed M, Saif F, Tawfiq N, Al-Ali MT, Bastaki F
Eur J Med Genet 2016 Jun;59(6-7):337-41. Epub 2016 May 11 doi: 10.1016/j.ejmg.2016.05.006. PMID: 27180139

Clinical prediction guides

Blauen A, Stutterd CA, Stouffs K, Dumitriu D, Deggouj N, Lockhart PJ, Leventer RJ, Nassogne MC, Jansen AC
J Child Neurol 2021 Feb;36(2):152-158. Epub 2020 Oct 4 doi: 10.1177/0883073820960314. PMID: 33016209
Forli F, Fiacchini G, Bruschini L, Caniglia M, Berrettini S
Cochlear Implants Int 2019 Jul;20(4):217-221. Epub 2019 Mar 25 doi: 10.1080/14670100.2019.1595875. PMID: 30907716
Hamzeh AR, Nair P, Mohamed M, Saif F, Tawfiq N, Al-Ali MT, Bastaki F
Eur J Med Genet 2016 Jun;59(6-7):337-41. Epub 2016 May 11 doi: 10.1016/j.ejmg.2016.05.006. PMID: 27180139

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