Genoa syndrome

Alternate names

Holoprosencephaly craniosynostosis; Camera Lituania Cohen syndrome; Semilobar holoprosencephaly and primary craniosynostosis

Definition

Genoa syndrome is a rare condition that primarily affects the brain and skull.

Cause

The underlying genetic cause of the condition is currently unknown.

Inheritance

Autosomal recessive inheritance, a 25% chance

Some reports suggest that Genoa syndrome may be inherited in an autosomal recessive manner.

Signs and symptoms

• Babies with this condition are generally born with semilobar holoprosencephaly, a disorder caused by failure of the developing brain to sufficiently divide into the double lobes of the cerebral hemispheres.
• They later develop craniosynostosis (the premature closure of one or more of the fibrous joints between the bones of the skull before brain growth is complete).
• Genoa syndrome also appears to be associated with other skeletal abnormalities, including those of the hands, and distinctive facial features.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

• Abnormality of retinal pigmentation
• Brachycephaly(Short and broad skull)
• Brachydactyly(Short fingers or toes)
• Clinodactyly of the 5th finger(Permanent curving of the pinkie finger)
• Cognitive impairment(Abnormality of cognition)
• Coxa valga
• Craniosynostosis
• Delayed skeletal maturation(Delayed bone maturation)
• Epicanthus(Eye folds)
• Facial asymmetry(Asymmetry of face)
• Holoprosencephaly
• Hypoplastic vertebral bodies(Underdeveloped back bones)
• Hypotelorism(Abnormally close eyes)
• Microcephaly(Abnormally small skull)
• Muscular hypotonia(Low or weak muscle tone)
• Plagiocephaly(Flat head syndrome)
• Short distal phalanx of finger(Short outermost finger bone)
• Short palpebral fissure(Short opening between the eyelids)
• Short stature(Decreased body height)
• Strabismus(Cross-eyed)
• Upslanted palpebral fissure(Upward slanting of the opening between the eyelids)

Treatment

Treatment is supportive and based on the signs and symptoms present in each person.

NIH genetic and rare disease info

• NIH info on Genoa syndrome

Genoa syndrome is a rare disease.

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