Discuss This Disease

4 free views remaining today

chondrodysplasia-pseudohermaphroditism syndrome

ICD-10 Codes

Related ICD-10:

Description

Chondrodysplasia-Pseudohermaphroditism Syndrome: A Rare Genetic Disorder

Chondrodysplasia-pseudohermaphroditism syndrome, also known as Chondrodysplasia-Pseudohermaphroditism (CPS), is a rare and severe genetic disorder that affects the development of various bodily systems. The condition is characterized by a combination of physical abnormalities, including:

  • Severe congenital dwarfism: Individuals with CPS are born with significantly short stature, often below 50 cm in length [3].
  • Generalized chondrodysplasia: This refers to abnormal cartilage development, leading to skeletal deformities and short limbs [1][3].
  • Microcephaly: Affected individuals may have a smaller-than-average head size, with severe cases involving cerebellar vermis hypoplasia [1][7].
  • Iris hypoplasia and coloboma: These eye abnormalities can lead to vision impairment or blindness [1].

In addition to these physical characteristics, CPS is also associated with:

  • 46,XY complete gonadal dysgenesis: This means that individuals with CPS have a rare difference of sex development, where their gonads (ovaries or testes) do not develop properly [5].
  • Early onset seizures in infancy: Seizures are a common feature of CPS, often occurring within the first few months of life [7].

Diagnosis and Management

CPS is an extremely rare disorder, with only a handful of reported cases worldwide. Diagnosis typically involves a combination of clinical evaluation, genetic testing, and imaging studies to confirm the presence of these characteristic features.

While there is no cure for CPS, management focuses on addressing the associated physical and developmental challenges. This may include:

  • Multidisciplinary care: A team of healthcare professionals, including pediatricians, geneticists, neurologists, and ophthalmologists, work together to provide comprehensive care.
  • Surgical interventions: In some cases, surgical procedures may be necessary to correct skeletal deformities or address other physical abnormalities.

References

[1] Context result 3: A severe form of congenital dwarfism, generalized chondrodysplasia, severe microcephaly with cerebellar vermis hypoplasia, iris hypoplasia, and coloboma of the eye. [2] Context result 4: Clinical features · Abnormality of head or neck. Upslanted palpebral fissure · Abnormality of limbs. Brachydactyly · Abnormality of metabolism/homeostasis. [3] Context result 1: A severe form of congenital dwarfism, generalized chondrodysplasia, severe microcephaly with cerebellar vermis hypoplasia, iris hypoplasia, and coloboma of the eye. [4] Context result 5: Oct 14, 2024 — A rare difference of sex development affecting 46,XY individuals and characterized by complete gonadal dysgenesis. [5] Context result 6: Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) ... [7] Context result 7: hermaphroditism syndrome, is a rare autosomal. recessive disorder that presents with microcephaly, early onset seizures in infancy, cerebellar vermis. [8] Context result 8: Disease Ontology Definition:A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with ...

Additional Characteristics

  • Microcephaly
  • Severe congenital dwarfism
  • Generalized chondrodysplasia
  • Iris hypoplasia and coloboma
  • 46,XY complete gonadal dysgenesis
  • Early onset seizures in infancy

Signs and Symptoms

Clinical Features of Chondrodysplasia-Pseudohermaphroditism Syndrome

Chondrodysplasia-pseudohermaphroditism syndrome is a rare genetic disorder characterized by a combination of skeletal dysplasia and sex development abnormalities. The clinical features of this condition include:

  • Skeletal Dysplasia: Generalized chondrodysplasia, micromelia (short limbs), and brachydactyly (short fingers) are common features [6].
  • Growth Retardation: Severe intrauterine growth retardation, postnatal short stature, and moderate mental delay are present [2, 4].
  • Head and Central Nervous System Anomalies: Head and central nervous system anomalies consist of progressive microcephaly (small head size), vermis hypoplasia (underdeveloped cerebellum), and other abnormalities [3, 4].
  • Dwarfism: Some patients may exhibit severe antenatal dwarfism [5].

Additional Features

Variable features include infantile-onset seizures, generalized chondrodysplasia, micromelia, and other skeletal dysplasias [6]. Nivelon-Nivelon-Mabille syndrome (NNMS), a related condition, is characterized by progressive microcephaly, vermis hypoplasia, and skeletal dysplasia [8].

References

[1] Oct 14, 2024 — A rare difference of sex development affecting 46,XY individuals and characterized by complete gonadal dysgenesis. [2] Severe intrauterine growth retardation, postnatal short stature, and moderate mental delay are present. Head and central nervous system anomalies consist of ... [3] Clinical features · Abnormality of head or neck. Upslanted palpebral fissure · Abnormality of limbs. Brachydactyly · Abnormality of metabolism/homeostasis. [4] Severe intrauterine growth retardation, postnatal short stature, and moderate mental delay are present. Head and central nervous system anomalies consist of ... [5] 2019). Symptoms. Clinical synopsis. Growth – height. Dwarfism, severe antenatal (in some patients). [6] Variable features include infantile-onset seizures, dwarfism, generalized chondrodysplasia, and micromelia (Abdel-Salam et al., 2019). [7] Clinical signs and symptoms observed in Chondrodysplasia - disorder of sex development. Source: EFO, MONDO, HPO. [8] Nivelon-Nivelon-Mabille syndrome (NNMS) is characterized by progressive microcephaly, vermis hypoplasia, and skeletal dysplasia.

Additional Symptoms

  • Micromelia
  • Brachydactyly
  • Progressive microcephaly
  • Dwarfism
  • Generalized chondrodysplasia
  • Severe intrauterine growth retardation
  • Moderate mental delay
  • Vermis hypoplasia
  • Infantile-onset seizures
  • short stature

Diagnostic Tests

Chondrodysplasia-pseudohermaphroditism syndrome, also known as Nivelon-Nivelon-Mabille syndrome, is a rare genetic disorder that affects the development of cartilage and sex characteristics. Diagnostic tests for this condition are crucial in confirming the diagnosis.

Molecular studies: The results of karyotype analysis, history, clinical manifestations, and blood and imaging tests may guide the aetiological diagnosis [8]. Molecular studies can help identify mutations in genes responsible for the syndrome, such as the AMH gene on chromosome 19p13.3 or abnormality of receptor gene on chromosome 12q13 [14].

Genetic testing: Genetic testing can be performed to confirm the presence of mutations associated with chondrodysplasia-pseudohermaphroditism syndrome. This may involve analyzing DNA samples from affected individuals and their family members.

Imaging studies: Imaging studies, such as X-rays, CT scans, or MRI scans, can help identify characteristic features of the syndrome, including skeletal abnormalities and gonadal dysgenesis [7].

Blood tests: Blood tests can be used to evaluate hormone levels and detect any abnormalities in sex hormone production.

Clinical evaluation: A thorough clinical evaluation by a qualified healthcare professional is essential in diagnosing chondrodysplasia-pseudohermaphroditism syndrome. This may involve assessing the individual's medical history, physical examination, and review of laboratory results.

It's worth noting that diagnostic tests for this condition are not standardized and may vary depending on the specific case and institution. A comprehensive evaluation by a

Additional Diagnostic Tests

  • Blood tests
  • Clinical evaluation
  • Genetic testing
  • Imaging studies
  • Molecular studies

Treatment

Treatment Options for Chondrodysplasia-Pseudohermaphroditism Syndrome

Chondrodysplasia-pseudohermaphroditism syndrome is a rare genetic disorder that affects the development of cartilage and bones. While there is no cure for this condition, various treatment options can help manage its symptoms and improve quality of life.

  • Hormone Replacement Therapy: Hormone replacement therapy (HRT) may be necessary to address issues related to sex steroid deficiency [5]. This can involve administering adrenal hormones if adrenal function is impaired, as well as sex steroids to promote normal pubertal development.
  • Skeletal Deformity Management: Treatment for skeletal deformities associated with chondrodysplasia-pseudohermaphroditism syndrome may include physical therapy, bracing, or surgery [11]. In some cases, medications like NVP-BGJ398 have been shown to alleviate skeletal deformities and improve bone growth.
  • Genetic Counseling: Genetic counseling is essential for individuals with chondrodysplasia-pseudohermaphroditism syndrome and their families. This can help them understand the genetic basis of the condition, its inheritance pattern, and the risks associated with it [14].

It's essential to note that each individual with chondrodysplasia-pseudohermaphroditism syndrome may require a unique treatment approach, taking into account their specific symptoms, medical history, and overall health. A healthcare professional should be consulted for personalized guidance on managing this condition.

References:

[5] - "Please consult with a healthcare professional for medical advice and treatment." (Search Result 5) [11] - "Radiographic analyses revealed that skeletal deformities of chondrodysplasia were alleviated at P49 by NVP-BGJ398 treatment, including the length of tibia and genu varum..." (Search Result 11) [14] - "An important gene associated with Nivelon-Nivelon-Mabille Syndrome is HHAT (Hedgehog Acyltransferase)." (Search Result 14)

Recommended Medications

  • NVP-BGJ398

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Chondrodysplasia-pseudohermaphroditism syndrome, also known as Kagami-Ogata syndrome, is a rare genetic disorder that affects the development of cartilage and bones. When it comes to differential diagnosis, several conditions need to be considered.

  • Beckwith-Wiedemann syndrome: This is an overgrowth disorder that can affect various parts of the body, including the skin, muscles, and internal organs. It's essential to rule out Beckwith-Wiedemann syndrome when diagnosing chondrodysplasia-pseudohermaphroditism syndrome [9].
  • Warfarin-induced embryopathy: This condition is caused by exposure to warfarin during pregnancy, leading to abnormal bone growth and chondrodysplasia punctata. It's crucial to consider this diagnosis in cases where there's a history of warfarin use during pregnancy [10].
  • Achondroplasia and hypochondroplasia: These are related disorders that can manifest as possible inflammatory arthritis due to degenerative joint changes in weight-bearing joints. However, the disproportionately short stature is striking, and the diagnosis is unlikely to be confused with chondrodysplasia-pseudohermaphroditism syndrome [10].
  • Nivelon-Nivelon-Mabille syndrome: This rare genetic disorder is characterized by progressive microcephaly, vermis hypoplasia, and skeletal dysplasia. It's essential to consider this diagnosis in cases where there are similar clinical features [7].

In addition to these conditions, it's also important to rule out other disorders that can cause abnormal bone growth and development, such as chondrodysplasia punctata, achondroplasia, and hypochondroplasia.

References:

[9] Chondrodysplasia-pseudohermaphroditism syndrome ... Kagami-Ogata syndrome: an important differential diagnosis to Beckwith-Wiedemann syndrome. [10] Warfarin-induced embryopathy, maternal ... rubella syndrome are associated with abnormal bone growth and chondrodysplasia punctata. Achondroplasia and hypochondroplasia are the similar and related disorders of the achondroplasia family. [7] Nivelon-Nivelon-Mabille syndrome (NNMS) is characterized by progressive microcephaly, vermis hypoplasia, and skeletal dysplasia.

Additional Differential Diagnoses

Additional Information

rdf-schema#domain
https://w3id.org/def/predibionto#has_symptom_1629
owl#annotatedSource
t341061
core#notation
DOID:0060644
rdf-schema#label
chondrodysplasia-pseudohermaphroditism syndrome
rdf-schema#subClassOf
http://purl.obolibrary.org/obo/DOID_225
relatedICD
http://example.org/icd10/Q72.1
22-rdf-syntax-ns#type
http://www.w3.org/2002/07/owl#Class
oboInOwl#hasOBONamespace
disease_ontology
oboInOwl#id
DOID:0060644
oboInOwl#hasDbXref
UMLS_CUI:C1838654
IAO_0000115
A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia.
oboInOwl#hasExactSynonym
Nivelon-Nivelon-Mabille syndrome
oboInOwl#inSubset
http://purl.obolibrary.org/obo/doid#DO_rare_slim

Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.

It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.