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Hydrocephalus, congenital communicating, 1(HYDCC1; HYC4)

MedGen UID:
1684770
Concept ID:
C5231454
Disease or Syndrome
Synonym: HYDROCEPHALUS, CONGENITAL, 4
 
Gene (location): TRIM71 (3p22.3)
 
Monarch Initiative: MONDO:0032862
OMIM®: 618667

Definition

Congenital hydrocephalus-4 (HYC4) is characterized by inadequate passage of cerebrospinal fluid (CSF) from its point of production to its point of absorption, in the absence of obstruction (communicating hydrocephalus). Patients undergo surgical shunting at birth because of extreme ventriculomegaly. Patients have neurodevelopmental delay and epilepsy (Furey et al., 2018). [from OMIM]

Clinical features

From HPO
Communicating hydrocephalus
MedGen UID:
1058
Concept ID:
C0009451
Disease or Syndrome
A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space.
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.
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
Neurodevelopmental delay
MedGen UID:
868344
Concept ID:
C4022738
Finding
Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.

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