Craniorhiny

MedGen UID:: 338944
•Concept ID:: C1852501
•: Disease or Syndrome

Synonym:	CRANIORHINY
SNOMED CT:	Craniorhiny (784350004)

Monarch Initiative:	MONDO:0007398
OMIM®:	123050
Orphanet:	ORPHA157832

Definition

A rare frontonasal dysplasia malformation syndrome with characteristics of an oxycephalic skull with craniosynostosis, wide nose with anteverted nostrils, hirsutism at base of nose, agenesis of the nasolacrimal ducts and bilateral symmetrical nasolabial cysts on upper lip. Additional features may include hypertelorism. There have been no further descriptions in the literature since 1991. [from SNOMEDCT_US]

Clinical features

From HPO

Craniosynostosis syndrome

MedGen UID:: 1163
•Concept ID:: C0010278
•: Disease or Syndrome

Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.

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Oxycephaly

MedGen UID:: 1634950
•Concept ID:: C4551646
•: Congenital Abnormality

Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull.

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Turricephaly

MedGen UID:: 1726910
•Concept ID:: C5399823
•: Congenital Abnormality

Tall head relative to width and length.

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Wide nose

MedGen UID:: 140869
•Concept ID:: C0426421
•: Finding

Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae.

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Anteverted nares

MedGen UID:: 326648
•Concept ID:: C1840077
•: Finding

Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).

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Hirsutism