Van der Woude syndrome with mental retardation: case report
1Department of Surgery, Jos University Teaching Hospital, P.M.B. 2076, Jos, Nigeria.
East African Medical Journal
|October 31, 2001
Insights
This case report details a young African patient diagnosed with Van der Woude syndrome, who also presented with growth and mental retardation. Further genetic studies are recommended to understand the basis of these associated conditions.
Area of Science:
- Genetics
- Pediatrics
- Clinical Case Reports
Background:
- Van der Woude syndrome is a rare genetic disorder characterized by specific facial anomalies.
- Associated features can vary, necessitating comprehensive evaluation.
Observation:
- A four-and-a-half-year-old African male patient presented with features of Van der Woude syndrome.
- The patient also exhibited signs of growth retardation and mental retardation.
Findings:
- The patient displayed cleft lip/palate, hypodontia, and lower lip pits, consistent with Van der Woude syndrome.
- Co-occurrence of growth and mental retardation was observed in this patient.
Implications:
- This case highlights the potential for syndromic presentation of Van der Woude syndrome with developmental delays.
- Detailed karyotype analysis is crucial for elucidating the genetic underpinnings of these associated features.
Abstract:
A report of a four and half-year old African patient with Van der Woude syndrome and mental retardation is reported. In addition to cleft lip/palate, hypodontia and lower lip pits; features consistent with Van der Woude syndrome, he manifested features consistent with growth and mental retardation. A genetic basis for these associated features can only be determined by detailed karyotype studies.
Related Concept Videos
01:47Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
01:29Intellectual Disability
Intellectual disability (ID) is a neurodevelopmental condition characterized by deficits in intellectual and adaptive functioning that manifest during the developmental period. This condition encompasses challenges in reasoning, memory, problem-solving, and learning, accompanied by impairments in everyday life skills, such as communication, self-care, and social interactions. Intellectual disability affects approximately 1% of the population in the United States, impacting an estimated 5...
02:28Sex-linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.Y chromosome mutations are called “Y-linked” and only affect males since they alone carry a copy of that chromosome. Mutations to the relatively small Y chromosome can impact male sexual function and secondary sex characteristics. Y-chromosome infertility is a disorder that affects sperm...
01:19Autism Spectrum Disorder
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
01:21Nondisjunction
Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers. Nondisjunction is common during anaphase I or anaphase II of meiosis. Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold sister...
03:20Meiosis I
Meiosis is a carefully orchestrated set of cell divisions, the goal of which—in humans—is to produce haploid sperm or eggs, each containing half the number of chromosomes present in somatic cells elsewhere in the body. Meiosis I is the first such division, and involves several key steps, among them: condensation of replicated chromosomes in diploid cells; the pairing of homologous chromosomes and their exchange of information; and finally, the separation of homologous chromosomes by a...