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Oculo-palato-cerebral syndrome

MedGen UID:
Concept ID:
Congenital Abnormality; Disease or Syndrome
Synonyms: OCULOPALATOCEREBRAL DWARFISM; Oculopalatocerebral syndrome; OPC DWARFISM
SNOMED CT: Oculopalatocerebral syndrome (722055008); Oculo-palato-cerebral syndrome (722055008); Oculo-palato-cerebral dwarfism (722055008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
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).
Monarch Initiative: MONDO:0009769
OMIM®: 257910
Orphanet: ORPHA2714


Oculopalatocerebral syndrome is a rare disorder characterized by low birth weight, microcephaly, persistent hyperplastic primary vitreous, microphthalmia, large ears, small hands and feet, cleft palate, joint hypermobility, developmental delay, and cerebral atrophy (summary by Pellegrino et al., 2001). [from OMIM]

Clinical features

From HPO
Short stature
MedGen UID:
Concept ID:
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
MedGen UID:
Concept ID:
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:
Concept ID:
Mental or Behavioral Dysfunction
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
MedGen UID:
Concept ID:
Head circumference below 2 standard deviations below the mean for age and gender.
Cleft palate
MedGen UID:
Concept ID:
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
MedGen UID:
Concept ID:
Congenital Abnormality
Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.\n\nPeople with microphthalmia may also have a condition called coloboma. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or in the optic nerves, which carry information from the eyes to the brain. Colobomas may be present in one or both eyes and, depending on their size and location, can affect a person's vision.\n\nPeople with microphthalmia may also have other eye abnormalities, including clouding of the lens of the eye (cataract) and a narrowed opening of the eye (narrowed palpebral fissure). Additionally, affected individuals may have an abnormality called microcornea, in which the clear front covering of the eye (cornea) is small and abnormally curved.\n\nBetween one-third and one-half of affected individuals have microphthalmia as part of a syndrome that affects other organs and tissues in the body. These forms of the condition are described as syndromic. When microphthalmia occurs by itself, it is described as nonsyndromic or isolated.
MedGen UID:
Concept ID:
Disease or Syndrome
An abnormal white reflection from the pupil rather than the usual black reflection.
Remnants of the hyaloid vascular system
MedGen UID:
Concept ID:
Congenital Abnormality
Persistence of the hyaloid artery, which is the embryonic artery that runs from the optic disk to the posterior lens capsule may persist; the site of attachment may form an opacity. The hyaloid artery is a branch of the ophthalmic artery, and usually regresses completely before birth. This features results from a failure of regression of the hyaloid vessel, which supplies the primary vitreous during embryogenesis and normally regresses in the third trimester of pregnancy, leading to a particular form of posterior cataract.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOculo-palato-cerebral syndrome
Follow this link to review classifications for Oculo-palato-cerebral syndrome in Orphanet.

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