Orofaciodigital syndrome type 14

Also known as: Microcephaly-cerebral malformation-orofaciodigital syndrome, OFD14, Oral-facial-digital syndrome type 14

Definition

Orphanet

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.

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Symptoms

Medical Term Other Names Description
Microretrognathia Retromicrognathia A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly.
Hamartoma A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma.
Hamartoma of tongue Lingual hamartoma A benign (noncancerous) tumorlike malformation made up of an abnormal mixture of cells and tissues that originates in the tongue.
Postaxial polydactyly Postaxial hexadactyly A form of polydactyly in which the extra digit or digits are localized on the side of the fifth finger or fifth toe.
Polydactyly A congenital anomaly characterized by the presence of supernumerary fingers or toes.
Gingivitis Red and swollen gums, Inflamed gums, Gingival inflammation [more] Inflammation of the gingiva.
Intellectual disability Nonprogressive intellectual disability, Poor school performance, Mental-retardation, Dull intelligence, Nonprogressive mental retardation, Mental deficiency, Mental retardation, nonspecific, Low intelligence [more] Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Telecanthus Dystopia canthorum, Increased distance between medial canthi, Increased intercanthal distance, Corners of eye widely separated [more] Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi.
Molar tooth sign on MRI 'molar tooth' sign on imaging, Molar tooth sign, 'molar tooth sign' on brain imaging' [more] An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth.
Trigonocephaly Wedge shaped skull, Triangular cranium shape, Wedge shaped head, Triangular skull shape, Wedge shaped cranium, Triangular head shape [more] Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput.
Microcephaly small cranium, Decreased circumference of cranium, Small head, Small skull, Small head circumference, Reduced head circumference, Decreased size of cranium, Decreased size of skull, Abnormally small skull, Decreased size of head, Abnormally small cranium, small calvarium, Abnormally small head [more] Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Cleft palate Cleft of hard and soft palate, Palatoschisis, Uranostaphyloschisis [more] Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Micropenis Small penis, Short penis Abnormally small penis. At birth, the normal penis is about 3 cm (stretched length from pubic tubercle to tip of penis) with micropenis less than 2.0-2.5 cm.

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