orofaciodigital syndrome XIV

Orofaciodigital syndrome type XIV (OFD14) is a rare subtype of orofaciodigital syndrome, characterized by severe microcephaly, trigonocephaly, severe intellectual disability, and other distinct features.

Key Features:

• Severe microcephaly: This refers to a significantly small head size compared to the average.
• Trigonocephaly: A condition where the forehead is triangular in shape.
• Severe intellectual disability: Individuals with OFD14 often have significant cognitive impairments.
• Micro penis: The penis is smaller than usual.

Other Associated Features:

• Cleft palate: A split or opening in the roof of the mouth.
• Hypoplasia of the corpus callosum: Underdevelopment of the part of the brain that connects the two hemispheres.
• Abnormal facial shape: Individuals with OFD14 may have distinctive facial features, such as a triangular-shaped face.

Genetic Basis: Mutations in the human C2CD3 gene are responsible for causing OFD14. These mutations lead to skeletal dysplasia and provide new insights into the phenotypic and cellular consequences of altered C2CD3 function [1][4].

References:

• [1] Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function.
• [2] Orofaciodigital syndrome xiv is a rare subtype of the disorder, characterized by severe microcephaly, trigonocephaly, severe intellectual disability, and ...
• [4] Common signs and symptoms include a split (cleft) in the lip and a tongue with an unusual lobed shape. There may also be growth of noncancerous ...
• [5] OFD14 patients show severe microcephaly, cerebral malformations the molar tooth sign, and intellectual disability in addition to canonical OFDS features. Mondo ...

Orofaciodigital syndrome type XIV (OFD14) is a rare genetic disorder characterized by a combination of physical abnormalities, intellectual disability, and other systemic features.

Common Signs and Symptoms:

• Severe microcephaly (small head size)
• Cerebral malformations
• Molar tooth sign (a specific brain imaging finding)
• Intellectual disability
• Abnormalities in the oral cavity, facial features, and digits

These symptoms can vary in severity and may be accompanied by other systemic features such as retinopathy and severe intellectual disability with no speech.

Additional Features:

• Cleft tongue
• Extra teeth
• Cleft palate
• Fusion of fingers or toes (polydactyly)
• Abnormalities in the eyes, including retinopathy

It's essential to note that OFD14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations. The symptoms listed above are based on published scientific articles and are estimated for the entire population of patients in routine care.

References: * [1] Severe microcephaly, cerebral malformations the molar tooth sign, and intellectual disability in addition to canonical OFDS features. * [4] OFD14 patients show severe microcephaly, cerebral malformations the molar tooth sign, and intellectual disability in addition to canonical OFDS features. * [6] OFD14 patients show severe microcephaly, cerebral malformations the molar tooth sign, and intellectual disability in addition to canonical OFDS features. * [8] Neurologic features included retinopathy and severe intellectual disability with no speech. Brain imaging showed vermian hypoplasia with the molar tooth sign ... * [9] Symptoms include abnormalities in the oral cavity, facial features, and digits, such as cleft tongue, extra teeth, cleft palate, and fusion of fingers or toes.

Diagnostic Tests for Orofaciodigital Syndrome Type 14

Orofaciodigital syndrome type 14 (OFDS XIV) is a rare subtype of OFDS, and diagnosing it can be challenging due to its varying signs and symptoms. However, several diagnostic tests have been developed to help identify this condition.

• Clinical Genetic Test: A clinical genetic test offered by Intergen for conditions like OFDS XIV involves testing the C2CD3 gene (11q13.4) [1][9]. This test can help confirm the presence of a mutation in the C2CD3 gene, which is associated with autosomal recessive inheritance.
• Genetic Analysis: Genetic analysis of the C2CD3 gene can reveal mutations that cause skeletal dysplasia and other phenotypic abnormalities [7].
• Physical Examination: A physical examination by a healthcare professional can help identify signs and symptoms such as fusion of certain fingers or toes (syndactyly), digits that are shorter than usual (brachydactyly), or digits that are abnormally shaped [6].

Common Abnormalities Associated with OFDS XIV

The following abnormalities have been associated with OFDS XIV:

• Abnormality of the genitourinary system: This can include issues such as kidney problems or genital abnormalities [8][10].
• Abnormality of head or neck: This can include issues such as facial abnormalities, ear problems, or neck abnormalities [8][10].
• Abnormality of the eye: This can include issues such as vision problems, eye shape abnormalities, or other eye-related issues [8].

References

[1] Clinical Genetic Test offered by Intergen for conditions (1): Orofaciodigital syndrome type 14; Testing genes (1): C2CD3 (11q13.4); Methodology includes ...

[6] Feb 1, 2010 — These abnormalities include fusion of certain fingers or toes (syndactyly), digits that are shorter than usual (brachydactyly ), or digits that ...

[7] Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function.

[8] Abnormality of the genitourinary system (HP:0000119) Abnormality of head or neck (HP:0000152) Abnormality of the eye (HP:0000478)

[9] Clinical Genetic Test offered by Intergen for conditions (1): Orofaciodigital syndrome type 14; Testing genes (1): C2CD3 (11q13.4); Methodology includes ...

[10] Abnormality of head or neck (HP:0000152) Abnormality of the genitourinary system (HP:0000119) Abnormality of the eye (HP:0000478)

Treatment Options for Orofaciodigital Syndrome Type 14

Orofaciodigital syndrome type 14 (OFD14) is a rare subtype of orofaciodigital syndrome, characterized by autosomal recessive inheritance and C2CD3 mutations. While there is no specific cure for OFD14, various treatment options are available to manage its symptoms.

Surgical Interventions

• Surgery may be necessary to correct cleft lip/palate, tongue nodules, accessory frenulae, syndactyly (webbed fingers or toes), and polydactyly (extra fingers or toes) [4].
• Speech therapy may also be required to address any speech-related issues [4].

Other Treatment Options

• Treatment of manifestations: Surgery for cleft lip/palate, tongue nodules, accessory frenulae, syndactyly, and polydactyly; speech therapy and other interventions as needed [4].
• Orphan drugs may be developed specifically for the treatment of rare diseases like OFD14 [9].

Current Research

• Researchers are exploring advances in cell and gene therapy and pharmaceuticals to accelerate brain function in individuals affected by DDX3X Syndrome, which is related to OFD14 [7].

It's essential to note that each individual with OFD14 may require a unique treatment plan, taking into account their specific symptoms and needs. A multidisciplinary team of healthcare professionals should be involved in the management of this condition.

References: [4] Treatment of manifestations: Surgery for cleft lip/palate, tongue nodules, accessory frenulae, syndactyly, and polydactyly; speech therapy and other interventions as needed. [7] Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals. [9] Orphan drugs are those developed specifically for the treatment of rare diseases. Within the pharmaceutical industry, the drug development process is...

Understanding Differential Diagnosis in Orofaciodigital Syndrome XIV

The differential diagnosis for orofaciodigital syndrome (OFDS) XIV involves considering other related conditions that may present similar symptoms. According to the available information, OFDS XIV is a subtype of oral-facial-digital syndromes (OFDS), which are rare developmental disorders affecting the mouth, face, and digits.

Related Conditions

The differential diagnoses for OFD type XIV syndrome include:

• Other OFD syndromes (OFD2, 3, 4, 5, 6, 8, and 9)
• Familial cystic renal disease
• Meckel syndrome
• Joubert syndrome

These conditions share similar symptoms with OFD type XIV syndrome, such as congenital anomalies of the oral cavity, face, and digits. It is essential to consider these differential diagnoses when evaluating patients suspected of having OFD type XIV syndrome.

Key Points

• OFDS XIV is a subtype of oral-facial-digital syndromes (OFDS)
• Differential diagnosis includes other OFD syndromes and familial cystic renal disease
• Meckel and Joubert syndromes should also be considered in the differential diagnosis

References:

[3] by B Franco · 2016 · Cited by 96 — OFD type XIV syndrome (OFDXIV). This OFD subtype was defined after the identification of mutations in the C2CD3 gene.

[9] by SN Ahmed · Cited by 2 — The differential diagnosis includes different forms of OFDS and familial cystic renal disease. Meckel and Joubert syndromes should also be considered (15).

Note: The numbers in square brackets refer to the search results provided in the context, which were used to generate this answer.