Craniofrontonasal Syndrome (CFNS)

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Disease Ontology 12 DOID:14737 OMIM 56 304110 KEGG 36 H01992 MeSH 43 C536456 D019465 SNOMED-CT 67 715421009 MESH via Orphanet 44 C536456

ICD10 via Orphanet 33 Q87.1 UMLS via Orphanet 72 C0220767 Orphanet 58 ORPHA1520 MedGen 41 C0220767 SNOMED-CT via HPO 68 111266001 13649004 15253005 17190001 194021007 202281000 204043002 204878001 204888000 21850008 22006008 224958001 228156007 237836003 246800008 246803005 247578003 249321001 249326006 249685004 249690001 249769001 253983005 254024005 268251006 271611007 271768001 27272007 27911000 298203008 32113001 34048007 391987005 396347007 398151007 398152000 399054005 399252000 422775003 43476002 5102002 52564001 563001 57219006 60700002 63567004 64217002 66948001 79120002 80281008 81793007 85136002 87979003 8915006 90145001 91138005 95427009 more UMLS 71 C0220767

Genetics Home Reference : ²⁵ Craniofrontonasal syndrome is a rare condition characterized by the premature closure of certain bones of the skull (craniosynostosis) during development, which affects the shape of the head and face. The condition is named for the areas of the body that are typically affected: the skull (cranio-), face (fronto-), and nose (nasal). In people with craniofrontonasal syndrome, the skull bones along the coronal suture, which is the growth line that goes over the head from ear to ear, closes early. These changes can result in an abnormally shaped head and distinctive facial features. The size and shape of facial structures may differ between the right and left sides of the face (facial asymmetry) in individuals with craniofrontonasal syndrome. Affected individuals may also have wide-set eyes (ocular hypertelorism), eyes that do not point in the same direction (strabismus), involuntary eye movements (nystagmus), a slit (cleft) in the tip of the nose, a wide nasal bridge, an upper lip that points outward (called a tented lip), or a cleft in the upper lip with or without a cleft in roof of the mouth (palate). Some affected individuals have brain abnormalities, such as absent or underdeveloped tissue connecting the left and right halves of the brain (agenesis or dysgenesis of the corpus callosum). However, intelligence is usually unaffected in people with this condition. Females with craniofrontonasal syndrome typically have more severe signs and symptoms than affected males, who often have hypertelorism and rarely, cleft lip. Other common features of craniofrontonasal syndrome include extra folds of skin on the neck (webbed neck), ridged nails, unusual curving of the fingers or toes (clinodactyly), extra fingers (polydactyly) or fingers that are fused together (syndactyly), low-set breasts, a sunken chest (pectus excavatum), a spine that curves to the side (scoliosis), or narrow and sloped shoulders with reduced range of motion. People with this condition may also have eyebrows that grow together in the middle (synophrys), a widow's peak hairline with a low hairline in the back, or wiry hair.

MalaCards based summary : Craniofrontonasal Syndrome, also known as craniofrontonasal dysplasia, is related to craniofrontonasal dysplasia-poland anomaly syndrome and craniofrontonasal syndrome teebi type, and has symptoms including grooving of nail An important gene associated with Craniofrontonasal Syndrome is EFNB1 (Ephrin B1), and among its related pathways/superpathways are Developmental Biology and CREB Pathway. Affiliated tissues include breast, bone and eye, and related phenotypes are hypertelorism and wide nasal bridge

Disease Ontology : ¹² A syndrome that has material basis in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton.

NIH Rare Diseases : ⁵² Craniofrontonasal dysplasia is a rare genetic condition with several skeletal defects. Main features of this condition include widely spaced eyes (hypertelorism ), bifid tip of the nose, broad head (brachycephaly), prominent forehead (frontal bossing ), asymmetry of facial features, abnoral form of the eyebrow, and/or crossed eyes (strabismus ). Other described features include narrow sloping shoulders, malformed bone of the center of the chest (sternum), malformation of the collarbone (clavicle); backward curvature of the spine (lordosis ); and/or abnormal lateral curvature of the spine (scoliosis ). Several problems leading to asymmetry of the sides of the body have being described, such as asymmetric lengths of the legs or arms, asymmetric breasts, one shoulder that is higher than the other (Sprengel defomity ) and absence of the chest wall muscles or bones in one side of the body with abnormally short, webbed fingers on the hand on the same side (Poland syndrome ). Females affected with this condition generally have more symptoms than affected males. Treatment may include surgery to correct the shape of the skull or to adjust the facial features associated with this condition.

OMIM : ⁵⁶ Craniofrontonasal syndrome is an X-linked developmental disorder that shows paradoxically greater severity in heterozygous females than in hemizygous males. Females have frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton, whereas males typically show only hypertelorism (Twigg et al., 2004; Wieland et al., 2004). (304110)

KEGG : ³⁶ Craniofrontonasal syndrome (CFNS) is an X-linked disorder caused by loss-of-function mutations of EFNB1. CFNS is characterized by body asymmetry, midline defects, skeletal abnormalities, and dermatological abnormalities. It is a very peculiar X-linked syndrome because females are affected whereas male carriers show no or only mild abnormalities.

UniProtKB/Swiss-Prot : ⁷³ Craniofrontonasal syndrome: X-linked inherited syndrome characterized by hypertelorism, coronal synostosis with brachycephaly, downslanting palpebral fissures, clefting of the nasal tip, joint anomalies, longitudinally grooved fingernails and other digital anomalies.

Wikipedia : ⁷⁴ Craniofrontonasal dysplasia (craniofrontonasal syndrome, craniofrontonasal dysostosis, CFND) is a very... more...

Clinical features from OMIM:

304110

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased substrate adherent cell growth	GR00193-A-2	8.92	EPHA1 EPHA7 EPHB1 EPHB2

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