Orofaciodigital syndrome 14

Title

Other Names:

Orofaciodigital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome; Oral-facial-digital syndrome type 14; Orofaciodigital syndrome type 14; Microcephaly-cerebral malformation-orofaciodigital syndrome; Oral-facial-digital syndrome type 14; OFD14 See More

This disease is grouped under:

Orofaciodigital syndromes

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 434179

Definition

Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated.

Visit the Orphanet disease page for more resources.

Last updated: 8/1/2017

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
30%-79% of people have these symptoms
Abnormal facial shape	Unusual facial appearance	0001999
Abnormal myelination		0012447
Accessory oral frenulum		0000191
Aplasia of the epiglottis		0008753
Bifid tongue	Cleft tongue Forked tongue Split tongue [ more ]	0010297
Bilateral cryptorchidism		0008689
Broad hallux	Broad big toe Wide big toe [ more ]	0010055
Bulbous nose		0000414
Cleft palate	Cleft roof of mouth	0000175
Dandy-Walker malformation		0001305
Deviation of the hallux	Displacement of big toe	0010051
Dilated third ventricle		0007082
Duplication of phalanx of hallux	Duplication of big toe bone Duplication of great toes [ more ]	0010066
Epispadias		0000039
Gastrostomy tube feeding in infancy		0011471
Global developmental delay		0001263
Hamartoma of tongue		0011802
Hypoplasia of the corpus callosum	Underdevelopment of part of brain called corpus callosum	0002079
Increased number of teeth	Extra teeth Increased tooth count Supplemental teeth [ more ]	0011069
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Lobulated tongue	Bumpy tongue	0000180
Low-set, posteriorly rotated ears		0000368
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Microretrognathia	Small retruded chin	0000308
Molar tooth sign on MRI		0002419
Muscular hypotonia	Low or weak muscle tone	0001252
Open operculum		0100954
Partial agenesis of the corpus callosum		0001338
Patent ductus arteriosus		0001643
Periventricular heterotopia		0007165
Postaxial foot polydactyly	Extra toe attached near the little toe	0001830
Postaxial hand polydactyly	Extra little finger Extra pinkie finger Extra pinky finger [ more ]	0001162
Retinal coloboma	Hole in the back of the eye	0000480
Short neck	Decreased length of neck	0000470
Sleep apnea	Pauses in breathing while sleeping	0010535
Sloping forehead	Inclined forehead Receding forehead [ more ]	0000340
Telecanthus	Corners of eye widely separated	0000506
Trigonocephaly	Triangular skull shape Wedge shaped skull [ more ]	0000243
Upslanted palpebral fissure	Upward slanting of the opening between the eyelids	0000582
Ventricular septal defect	Hole in heart wall separating two lower heart chambers	0001629
Webbed neck	Neck webbing	0000465
Percent of people who have these symptoms is not available through HPO
Abnormality of the pinna	Abnormally shaped ears Auricular malformation Deformed ears Malformed ears [ more ]	0000377
Absent speech	Absent speech development Lack of language development Lack of speech No speech development No speech or language development Nonverbal [ more ]	0001344
Anteriorly placed anus		0001545
Atrial septal defect	An opening in the wall separating the top two chambers of the heart Hole in heart wall separating two upper heart chambers [ more ]	0001631
Autosomal recessive inheritance		0000007
Cerebellar hypoplasia	Small cerebellum Underdeveloped cerebellum [ more ]	0001321
Cleft lip		0410030
Congenital onset	Symptoms present at birth	0003577
Cryptorchidism	Undescended testes Undescended testis [ more ]	0000028
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Holoprosencephaly		0001360
Intellectual disability, severe	Early and severe mental retardation Mental retardation, severe Severe mental retardation [ more ]	0010864
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Micropenis	Short penis Small penis [ more ]	0000054
Natal tooth	Born with teeth Teeth present at birth [ more ]	0000695
Occipital encephalocele	Brain tissue sticks out through back of skull	0002085
Optic nerve coloboma		0000588
Polymicrogyria	More grooves in brain	0002126
Postaxial polydactyly		0100259
Posteriorly rotated ears	Ears rotated toward back of head	0000358
Preaxial polydactyly		0100258
Retinitis		0032118
Short ribs		0000773
Simplified gyral pattern		0009879

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Last updated: 7/1/2020

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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