Infantile choroidocerebral calcification syndrome

MedGen UID:: 395174
•Concept ID:: C1859092
•: Disease or Syndrome

Synonyms:	CHOROID PLEXUS CALCIFICATION AND MENTAL RETARDATION; Choroid plexus calcification with mental retardation; Choroido-cerebral calcification syndrome with retardation
SNOMED CT:	Infantile choroidocerebral calcification syndrome (724228005); Choroid plexus calcification and mental retardation (724228005)
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). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0008981
OMIM®:	215480
Orphanet:	ORPHA1313

Definition

This syndrome has characteristics of intellectual deficit, calcification of the choroid plexus and elevated levels of cerebrospinal fluid protein. It has been described in two sibships from two unrelated families. The seven children of one of the sibships were born to consanguineous parents. Some patients also had strabismus, hyperactive deep tendon reflexes and foot deformities. [from SNOMEDCT_US]

Clinical features

From HPO

Babinski sign

MedGen UID:: 19708
•Concept ID:: C0034935
•: Finding

Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.

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Seizure

MedGen UID:: 20693
•Concept ID:: C0036572
•: Sign or Symptom

A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.

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Intellectual disability, severe

MedGen UID:: 48638
•Concept ID:: C0036857
•: Mental or Behavioral Dysfunction

Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.

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Increased CSF protein concentration

MedGen UID:: 329971
•Concept ID:: C1806780
•: Finding

Increased concentration of protein in the cerebrospinal fluid.

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Intellectual disability, progressive

MedGen UID:: 337397
•Concept ID:: C1846149
•: Mental or Behavioral Dysfunction

The term progressive intellectual disability should be used if intelligence decreases/deteriorates over time.

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Hyperactive deep tendon reflexes

MedGen UID:: 335355
•Concept ID:: C1846176
•: Finding

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Choroid plexus calcification

MedGen UID:: 354924
•Concept ID:: C1863184
•: Pathologic Function

The presence of calcium deposition in the choroid plexus.

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Abnormality of metabolism/homeostasis

MedGen UID:: 867398
•Concept ID:: C4021768
•: Finding

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Abnormality of the voice

MedGen UID:: 867406
•Concept ID:: C4021776
•: Finding

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Strabismus

MedGen UID:: 21337
•Concept ID:: C0038379
•: Disease or Syndrome

A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.

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