Craniorhiny is a rare

autosomal dominant In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...

syndrome characterized by

craniosynostosis Craniosynostosis is a condition in which one or more of the fibrous sutures in a young infant's skull prematurely fuses by turning into bone (ossification), thereby changing the growth pattern of the skull. Because the skull cannot expand perpe ...

(

oxycephaly Turricephaly is a type of cephalic disorder where the head appears tall with a small length and width. It is due to premature closure of the coronal suture plus any other Suture (anatomy), suture, like the Lambdoid suture, lambdoid, or it may be u ...

) and facial anomalies around the nose base and lips.

Signs and symptoms

Features of this condition include: * Head or neck: anteverted nares, wide nose, recessed forehead * Integument: nasal

hirsutism Hirsutism is excessive body hair on parts of the body where hair is normally absent or minimal. The word is from early 17th century: from Latin ''hirsutus'' meaning "hairy". It usually refers to a male pattern of hair growth in a female that ma ...

* Musculoskeletal system: craniosynotosis, oxycephaly/turricephaly Infranasal spherical

cyst A cyst is a closed sac, having a distinct envelope and division compared with the nearby tissue. Hence, it is a cluster of cells that have grouped together to form a sac (like the manner in which water molecules group together to form a bubb ...

-like formations with

fistulas In anatomy, a fistula (: fistulas or fistulae ; from Latin ''fistula'', "tube, pipe") is an abnormal connection (i.e. tube) joining two hollow spaces (technically, two epithelialized surfaces), such as blood vessels, intestines, or other ho ...

have also been seen.

History

The first (and only confirmed) reports of this condition was made in 1991, seen in a father and son. Two siblings reported in 2007 are also speculated to have the condition.

References

Rare diseases Syndromes {{Genetic-disorder-stub}