Hydrocephalus, congenital, 1

Alternative Names

  • Hydrocephaly
  • Ventriculomegaly
  • Hydrocephalus, nonsyndromic, autosomal recessive 1
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

OMIM Number


Mode of Inheritance

Autosomal recessive

Gene Map Locus



Hydrocephalus is a condition characterized by excessive accumulation of cerebrospinal fluid in the brain. Congenital hydrocephalus can be inherited as an X-linked or autosomal recessive trait. The X-linked recessive form is the most common in the general population and accounts for about 2 to 15% of primary idiopathic hydrocephalus in newborn males. Studies show that X-linked recessive form of congenital hydrocephalus is linked to L1CAM gene, where as autosomal recessive nonsyndromic hydrocephalus is caused by homozygous mutation in CCDC88C gene.

Epidemiology in the Arab World

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Other Reports


Al-Gazali et al. 1999 reported on four cases with hydrocephalus in the UAE population. Ethnicity was not specified. 


Noguiera (1992) reviewed all cases of hydrocephalus diagnosed in Qatar during a 3-year period (1986-1989) and identified five patients of Egyptian origin. Only one of these was diagnosed antenatally, while of the remaining four, three were diagnosed post delivery with hemorrhagic hydrocephalus [See also: Qatar > Noguiera, 1992].



[See: Palestine > Al-Shroof et al., 2001]


Teebi and Naguib (1988) observed nonsyndromal hydrocephalus in 4 siblings from a consanguineous Arab family in Kuwait. The Arnold-Chiari malformation was confirmed in 1 by autopsy and was suspected in the other 3.

In the same year, El Khateeb et al. (1988) studied auditory brain stem responses in 35 children with neurologiocal disorders. One patient with hydrocephalus was found to have delayed conduction.


Abdul-Karim et al. (1964) reported 6 cases of Hydrocephalus in two separate consanguineous families.


Sawardekar (2005) conducted a study to establish the prevalence of major congenital malformations in children born during a 10-year period (1993-2002) in Nizwa Hospital. Of the 21,988 total births in the hospital, 22 children were born with hydrocephalus.


Zlotogora et al. (1994) studied 8 Arab families with consanguineous parents. Each of these families had more than one child diagnosed with hydrocephalus of prenatal onset and 6 families had at least one affected female member.

In 1997, among the 2000 Palestinian Arab families analysed by Zlotogora, 98 families had at least one individual with congenital hydrocephalus and/or open neural tube defect.

Al-Shroof et al. (2001) described a large family of Jordanian origin that included: 9 individals from 3 generations with recurrent  pulmonary infections; 4 males (siblings) with ciliary dyskinesia syndrome associated with hydrocephalus and intellectual disability; a maternal uncle with intellectual disability and pulmonary problems who died 40 years prior to the study. The parents of the 4 affected siblings were consanginous.


Nogueira (1992)  reported a total of 65 cases of hydrocephalus diagnosed during the period between 1986 and 1989. The incidence was 157/100,000 live births.

Saudi Arabia

Alshehri (2005) studied the pattern and classification of all major congenital anomalies in Asir region between 1997 and 2002. Out of 691 neonates born with anomalies, 55 were observed to have hydrocephalus without spina bifida. This constituted 30.6% of neonates with central nervous system anomalies.

United Arab Emirates

Hosani and Czeizel (2000) reported the incidence rate of hydrocephalus as 0.21/1,000 births on evaluating the pilot dataset (March-May 1998) of the UAE National Congenital Abnormality Registry (NCAR). Out of 4,861 births recorded, only one case of congenital hydrocephalus was recorded.


Noguiera (1992) reviewed all cases of hydrocephalus diagnosed in Qatar during a 3-year period and identified five patients of Yemeni origin, all of which were diagnosed antenatally. There were no cases of hemorrhagic hydrocephalus [See also: Qatar> Noguiera, 1992].

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