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Disease Profile

Orofaciodigital syndrome 14

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

#N/A

ICD-10

#N/A

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

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

Summary

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

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.

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.

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

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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